Overview

Dr. Hayden’s work focuses on understanding the genetic roots of illness and using that understanding to develop better approaches to treatment for patients. He researches diabetes, coronary artery disease, and is part of a large collaboration to determine the genetic basis for adverse drug reactions. Much of his career has also been dedicated to understanding the development of Huntington disease and finding a way to cure it.

Publications

Association Between SLC16A5 Genetic Variation and Cisplatin-Induced Ototoxic Effects in Adult Patients With Testicular Cancer
Jama Oncology
DOI: 10.1001/jamaoncol.2017.0502
11/2017

Comparative Mitochondrial-Based Protective Effects of Resveratrol and Nicotinamide in Huntington's Disease Models
Molecular Neurobiology
DOI: 10.1007/s12035-016-0048-3
09/2017

Reduction of mutant huntingtin in oligodendroglia rescues myelination and behavioural deficits in a model of Huntington disease
Journal of Neurochemistry
08/2017

AUTHOR RESPONSE: HUNTINGTON DISEASE REDUCED PENETRANCE ALLELES OCCUR AT HIGH FREQUENCY IN THE GENERAL POPULATION
Neurology
DOI: 10.1212/wnl.0000000000003528
05/2017

A pharmacogenetic signature of high response to Copaxone in late-phase clinical-trial cohorts of multiple sclerosis
Genome Medicine
DOI: 10.1186/s13073-017-0436-y
05/2017

Neurodegeneration: Role of repeats in protein clearance
Nature
Dale D. O. Martin and Michael R. Hayden
DOI: 10.1038/nature22489
04/2017

Pharmacogenomic screening for anthracycline-induced cardiotoxicity in childhood cancer
British Journal of Clinical Pharmacology
DOI: 10.1111/bcp.13218
03/2017

Histone Deacetylase Inhibitors Protect Against Pyruvate Dehydrogenase Dysfunction in Huntington's Disease
Journal of Neuroscience
DOI: 10.1523/jneurosci.2006-14.2016
03/2017

eEF2K inhibition blocks A beta 42 neurotoxicity by promoting an NRF2 antioxidant response
Acta Neuropathologica
DOI: 10.1007/s00401-016-1634-1
01/2017

A novel humanizedmouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles
Human Molecular Genetics
DOI: 10.1093/hmg/ddx021
01/2017

Palmitoylation of caspase-6 by HIP14 regulates its activation
Cell Death and Differentiation
DOI: 10.1038/cdd.2016.139
01/2017

The targetable A1 Huntington disease haplotype has distinct Amerindian and European origins in Latin America
European Journal of Human Genetics
DOI: 10.1038/ejhg.2016.169
01/2017

Reduction of mutant huntingtin in oligodendroglia rescues myelination and behavioural deficits in a model of Huntington disease
Journal of Neurochemistry
2017

NEURODEGENERATION Role of repeats in protein clearance
Nature
Martin, D. D. O. and Hayden, M. R.
2017

Evaluation of pridopidine in the transgenic YAC128 mouse model of Huntington disease
Journal of Neurochemistry
2017

Beyond Motor Effects-Pridopidine's New Therapeutic Potential
Neurotherapeutics
2017

A novel microdeletion affecting the CETP gene raises HDL-associated cholesterol levels
Clinical Genetics
DOI: 10.1111/cge.12633
2016

Treatment with the MAO-A inhibitor clorgyline elevates monoamine neurotransmitter levels and improves affective phenotypes in a mouse model of Huntington disease
Experimental Neurology
DOI: 10.1016/j.expneurol.2016.01.019
2016

The Aryl Hydrocarbon Receptor in the Peripheral Immune System is the Molecular Target of Laquinimod in MOG induced Experimental Autoimmune Encephalomyelitis
Multiple Sclerosis Journal
2016

Sudden death due to paralysis and synaptic and behavioral deficits when Hip14/Zdhhc17 is deleted in adult mice
Bmc Biology
DOI: 10.1186/s12915-016-0333-7
2016

Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddw122
2016

Similarities and differences in the gene expression profiles of glatopa and copaxone
Multiple Sclerosis Journal
2016

Similarities and differences in the gene expression profiles of copaxone and polimunol
Multiple Sclerosis Journal
2016

Recommendations for genetic testing to reduce the incidence of anthracycline-induced cardiotoxicity
British Journal of Clinical Pharmacology
DOI: 10.1111/bcp.13008
2016

Rationale and Design for LEGATO-HD Study: A Multinational, Randomized, Double-blind, Placebo-controlled, Parallel Group Study to Evaluate the Efficacy and Safety of Laquinimod (0.5, 1.0, and 1.5 mg/day) as Treatment in Patients with Huntington Disease
Neurotherapeutics
2016

Pridopidine activates neuroprotective pathways impaired in Huntington Disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddw238
2016

Pharmacogenomic Strategies for the Prevention of Anthracycline-Induced Heart Failure: Validation of a Genetic Association with a Non-Synonymous Variant in RARG
Pediatric Blood & Cancer
2016

Modeling Doxorubicin-Induced Cardiotoxicity in Human Pluripotent Stem Cell Derived-Cardiomyocytes
Scientific Reports
DOI: 10.1038/srep25333
2016

MITIGATE-HD: A Trial of Memantine in Huntington Disease
Neurotherapeutics
2016

Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease
Scientific Reports
DOI: 10.1038/srep31652
2016

Laquinimod dampens hyperactive cytokine production in Huntington's disease patient myeloid cells
Journal of Neurochemistry
DOI: 10.1111/jnc.13553
2016

Laquinimod arrests experimental autoimmune encephalomyelitis by activating the aryl hydrocarbon receptor
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1607843113
2016

Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD
Human Molecular Genetics
DOI: 10.1093/hmg/ddw036
2016

Insulin and IGF-1 regularize energy metabolites in neural cells expressing full-length mutant huntingtin
Neuropeptides
DOI: 10.1016/j.npep.2016.01.009
2016

Huntington disease reduced penetrance alleles occur at high frequency in the general population
Neurology
2016

Genetic diversity of variants involved in drug response and metabolism in Sri Lankan populations: implications for clinical implementation of pharmacogenomics
Pharmacogenetics and Genomics
DOI: 10.1097/fpc.0000000000000182
2016

Functional effects of the antigen glatiramer acetate are complex and tightly associated with its composition
Journal of Neuroimmunology
DOI: 10.1016/j.jneuroim.2015.11.020
2016

ENHANCED IMMUNE RESPONSE TO MMP3 STIMULATION IN MICROGLIA EXPRESSING MUTANT HUNTINGTIN
Neuroscience
DOI: 10.1016/j.neuroscience.2016.03.031
2016

Dopamine D2 receptor gene variants and response to rasagiline in early Parkinson's disease: a pharmacogenetic study
Brain
DOI: 10.1093/brain/aww109
2016

Design, Characterization, and Lead Selection of Therapeutic miRNAs Targeting Huntingtin for Development of Gene Therapy for Huntington's Disease
Molecular Therapy-Nucleic Acids
DOI: 10.1038/mtna.2016.7
2016

Association of a multi-SNP signature with response to copaxone (Glatiramer Acetate) in a subset of patients and in multiple RRMS patient cohorts
Multiple Sclerosis Journal
2016

Anti-SEMA4D Antibody Ameliorates Pathogenic Processes in Central Nervous System, Cognitive Impairment in the YAC128 Mouse Model of Huntington Disease, and is Well-tolerated in Patients
Neurotherapeutics
2016

An enhanced Q175 knock-in mouse model of Huntington disease with higher mutant huntingtin levels and accelerated disease phenotypes
Human Molecular Genetics
DOI: 10.1093/hmg/ddw212
2016

ABCA1 deficiency and cellular cholesterol accumulation increases islet amyloidogenesis in mice
Diabetologia
DOI: 10.1007/s00125-016-3907-6
2016

A TRUE MENTOR AND PIONEER IN MEDICAL GENETICS
Samj South African Medical Journal
DOI: 10.7196/SAMJ.2016.v106i6.11022
2016

A coding variant in RARG confers susceptibility to anthracycline-induced cardiotoxicity in childhood cancer
Nature Genetics
DOI: 10.1038/ng.3374
2015

CODEINE-RELATED DEATHS IN ONTARIO, CANADA: THE ROLE OF PHARMACOGENETICS AND DRUG INTERACTIONS
Clinical Pharmacology & Therapeutics
2014

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddu137
2014

Response to "Evaluation of Pharmacogenetic Markers to Predict the Risk of Cisplatin-Induced Ototoxicity"
Clinical Pharmacology & Therapeutics
DOI: 10.1038/clpt.2014.90
2014

A novel inhibitor of Caspase-6 provides protection against mutant huntingtin toxicity
Journal of Molecular Neuroscience
2014

VKORC1 and CYP2C9 Genotypes are Predictors of Warfarin-Related Outcomes in Children
Pediatric Blood & Cancer
DOI: 10.1002/pbc.24932
2014

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families
Clinical Genetics
DOI: 10.1111/cge.12201
2014

The emerging era of pharmacogenomics: current successes, future potential, and challenges
Clinical Genetics
DOI: 10.1111/cge.12392
2014

Striatal Synaptic Dysfunction and Hippocampal Plasticity Deficits in the Hu97/18 Mouse Model of Huntington Disease
Plos One
DOI: 10.1371/journal.pone.0094562
2014

Personalized gene silencing therapeutics for Huntington disease
Clinical Genetics
DOI: 10.1111/cge.12385
2014

Laquinimod reduces neuronal caspase-6 activation and axonal degeneration in vitro
Movement Disorders
2014

Identification of Binding Sites in Huntingtin for the Huntingtin Interacting Proteins HIP14 and HIP14L
Plos One
DOI: 10.1371/journal.pone.0090669
2014

Identification of a post-translationally myristoylated autophagy-inducing domain released by caspase cleavage of Huntingtin
Human Molecular Genetics
DOI: 10.1093/hmg/ddu027
2014

Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent
Pharmacogenomics Journal
DOI: 10.1038/tpj.2013.13
2014

Examining conditional caspase-6 deficiency as a therapeutic in Huntington's disease
Movement Disorders
2014

Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results
Clinical Genetics
DOI: 10.1111/cge.12324
2014

Elevated cytokine release in microglia from Huntington's disease mice is reversed by laquinimod
Movement Disorders
2014

Codeine-related deaths: The role of pharmacogenetics and drug interactions
Forensic Science International
DOI: 10.1016/j.forsciint.2014.03.018
2014

Bidirectional Control of Postsynaptic Density-95 (PSD-95) Clustering by Huntingtin
Journal of Biological Chemistry
DOI: 10.1074/jbc.M113.513945
2014

ABCA1 in adipocytes regulates adipose tissue lipid content, glucose tolerance, and insulin sensitivity
Journal of Lipid Research
DOI: 10.1194/jlr.M045294
2014

Role of TPMT and COMT genetic variation in cisplatin-induced ototoxicity
Clinical Pharmacology & Therapeutics
DOI: 10.1038/clpt.2013.219
2014

p53 increases caspase-6 expression and activation in muscle tissue expressing mutant huntingtin
Human Molecular Genetics
DOI: 10.1093/hmg/ddt458
2014

Multisource Ascertainment of Huntington Disease in Canada: Prevalence and Population at Risk
Movement Disorders
DOI: 10.1002/mds.25717
2014

HACE1 reduces oxidative stress and mutant Huntingtin toxicity by promoting the NRF2 response
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1314421111
2014

Comparing the Biological Impact of Glatiramer Acetate with the Biological Impact of a Generic
Plos One
DOI: 10.1371/journal.pone.0083757
2014

"Grasping the Grey": Patient Understanding and Interpretation of an Intermediate Allele Predictive Test Result for Huntington Disease
Journal of Genetic Counseling
DOI: 10.1007/s10897-012-9533-7
2013

Tracking Brain Palmitoylation Change: Predominance of Glial Change in a Mouse Model of Huntington's Disease
Chemistry & Biology
DOI: 10.1016/j.chembiol.2013.09.018
2013

Regulation of ABCA1 Protein Expression and Function in Hepatic and Pancreatic Islet Cells by miR-145
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/atvbaha.113.302004
2013

Rational design of antisense oligonucleotides targeting single nucleotide polymorphisms for potent and allele selective suppression of mutant Huntingtin in the CNS
Nucleic Acids Research
DOI: 10.1093/nar/gkt725
2013

Mutations In ABCA8 Result In HDL Deficiency And Cholesterol Efflux Defects
Circulation Research
2013

Memory and synaptic deficits in Hip14/DHHC17 knockout mice
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1222384110
2013

High Frequency of Intermediate Alleles on Huntington Disease-Associated Haplotypes in British Columbia's General Population
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.32193
2013

DE NOVO HUNTINGTON DISEASE CAUSED BY 26-44 CAG REPEAT EXPANSION ON A LOW-RISK HAPLOTYPE
Neurology
2013

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington's disease motor onset
Neurogenetics
DOI: 10.1007/s10048-013-0364-y
2013

A Systematic Review and Meta-Analysis of Clinical Variables Used in Huntington Disease Research
Movement Disorders
DOI: 10.1002/mds.25663
2013

A Clinical Tool for Reducing Central Nervous System Depression among Neonates Exposed to Codeine through Breast Milk
Plos One
DOI: 10.1371/journal.pone.0070073
2013

A fully humanized transgenic mouse model of Huntington disease
Human Molecular Genetics
DOI: 10.1093/hmg/dds397
2013

ABCA1 influences neuroinflammation and neuronal death
Neurobiology of Disease
DOI: 10.1016/j.nbd.2013.01.018
2013

An Education Based Intervention Study for Reducing CNS Depression among Neonates Exposed to Codeine through Breast Milk
Birth Defects Research Part a-Clinical and Molecular Teratology
2013

An investigation of morphine-to-codeine metabolic ratios in postmortem blood, drug interactions, and cytochrome P450 2D6 (CYP2D6) genotype
Faseb Journal
2013

CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2013-101796
2013

Cancer Pharmacogenomics in Children: Research Initiatives and Progress to Date
Pediatric Drugs
DOI: 10.1007/s40272-013-0021-9
2013

Causes of Variability in Deterioration of Renal Function Among Pediatric Liver Transplant Recipients Receiving Tacrolimus
Therapeutic Drug Monitoring
2013

Choosing an animal model for the study of Huntington's disease
Nature Reviews Neuroscience
DOI: 10.1038/nrn3570
2013

Developing a comprehensive, effective patient-friendly website to enhance decision making in predictive testing for Huntington disease
Genetics in Medicine
DOI: 10.1038/gim.2012.149
2013

From Mutation Identification to Therapy: Discovery and Origins of the First Approved Gene Therapy in the Western World
Human Gene Therapy
DOI: 10.1089/hum.2013.063
2013

Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy (vol 41, pg 1345, 2009)
Nature Genetics
DOI: 10.1038/ng.0513-578
2013

Genetic Variation Does Not Influence Renal Function Following Pediatric Kidney Transplantation Receiving Tacrolimus
Therapeutic Drug Monitoring
2013

Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease
Human Molecular Genetics
DOI: 10.1093/hmg/dds441
2013

HLA-A*31:01 and HLA-B*15:02 as Genetic Markers for Carbamazepine Hypersensitivity in Children
Clinical Pharmacology & Therapeutics
DOI: 10.1038/clpt.2013.55
2013

Hunting human disease genes: lessons from the past, challenges for the future
Human Genetics
DOI: 10.1007/s00439-013-1286-3
2013

Huntington disease in the South African population occurs on diverse and ethnically distinct genetic haplotypes
European Journal of Human Genetics
DOI: 10.1038/ejhg.2013.2
2013

Intrinsic cleavage of receptor-interacting protein kinase-1 by caspase-6
Cell Death and Differentiation
DOI: 10.1038/cdd.2012.98
2013

Investigating Genetic and Clinical Sources of Variability in Predicting Deterioration of Renal Function Among Pediatric Heart Transplant Recipients Receiving Tacrolimus
Therapeutic Drug Monitoring
2013

Life-threatening adverse events following therapeutic opioid administration in adults: Is pharmacogenetic analysis useful?
Pain Research & Management
2013

Pharmacogenetics of warfarin safety and effectiveness in children
Faseb Journal
2013

Pharmacogenomics of vincristine-induced neurotoxicity in pediatric cancer patients
Faseb Journal
2013

Predicting Anthracycline-induced Cardiotoxicity in Children - Genome-Wide Association Study
Faseb Journal
2013

Providing predictive testing for Huntington disease via telehealth: results of a pilot study in British Columbia, Canada
Clinical Genetics
DOI: 10.1111/cge.12033
2013

Putative Association of ABCB1 2677G > T/A With Oxycodone-Induced Central Nervous System Depression in Breastfeeding Mothers
Therapeutic Drug Monitoring
DOI: 10.1097/FTD.0b013e318288f158
2013

Replication of TPMT and ABCC3 Genetic Variants Highly Associated With Cisplatin-Induced Hearing Loss in Children
Clinical Pharmacology & Therapeutics
DOI: 10.1038/clpt.2013.80
2013

Sirtuin modulators alter mitochondrial function in in vitro and in vivo Huntington's disease models
European Journal of Clinical Investigation
2013

Special new feature in Clinical Genetics
Clinical Genetics
DOI: 10.1111/cge.12067
2013

Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models
Nature Medicine
DOI: 10.1038/nm.3246
2013

The Impact of Partial and Complete Loss-of-Function Mutations in Endothelial Lipase on High-Density Lipoprotein Levels and Functionality in Humans
Circulation-Cardiovascular Genetics
DOI: 10.1161/circgenetics.111.962613
2013

The Salmonella Type III Effector SspH2 Specifically Exploits the NLR Co-chaperone Activity of SGT1 to Subvert Immunity
Plos Pathogens
DOI: 10.1371/journal.ppat.1003518
2013

Validation of variants in SLC28A3 and UGT1A6 as genetic markers predictive of anthracycline-induced cardiotoxicity in children
Pediatric Blood & Cancer
DOI: 10.1002/pbc.24505
2013

When access is an issue: exploring barriers to predictive testing for Huntington disease in British Columbia, Canada
European Journal of Human Genetics
DOI: 10.1038/ejhg.2012.147
2013

Adoption and the communication of genetic risk: experiences in Huntington disease
Clinical Genetics
DOI: 10.1111/j.1399-0004.2010.01614.x
2012

Peripheral and cerebral metabolic features in an animal model of Huntington's disease
2012 Ieee 2nd Portuguese Meeting in Bioengineering
2012

Age-dependent neurovascular abnormalities and altered microglial morphology in the YAC128 mouse model of Huntington disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2011.09.003
2012

Antisense oligonucleotide therapeutics for inherited neurodegenerative diseases
Trends in Molecular Medicine
DOI: 10.1016/j.molmed.2012.09.001
2012

Apnea and Oxygen Desaturations in Children Treated with Opioids after Adenotonsillectomy for Obstructive Sleep Apnea Syndrome A Prospective Pilot Study
Pediatric Drugs
2012

Beyond the patient: The broader impact of genetic discrimination among individuals at risk of Huntington disease
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.32016
2012

CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Neurology
DOI: 10.1212/WNL.0b013e318249f683
2012

Central Nervous System Depression of Neonates Breastfed by Mothers Receiving Oxycodone for Postpartum Analgesia
Journal of Pediatrics
DOI: 10.1016/j.jpeds.2011.06.050
2012

Common SNP-Based Haplotype Analysis of the 4p16.3 Huntington Disease Gene Region
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2012.01.005
2012

Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin
Pharmacogenomics Journal
DOI: 10.1038/tpj.2010.92
2012

Economic impact of a genetic test for cisplatin-induced ototoxicity
Pharmacogenomics Journal
DOI: 10.1038/tpj.2011.15
2012

Economic impact of a genetic test for cisplatin-induced ototoxicity (vol 12, pg 205, 2011)
Pharmacogenomics Journal
DOI: 10.1038/tpj.2011.21
2012

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics
Clinical Genetics
DOI: 10.1111/j.1399-0004.2012.01942.x
2012

Increased risk of coronary artery disease in Caucasians with extremely low HDL cholesterol due to mutations in ABCA1, APOA1, and LCAT
Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids
DOI: 10.1016/j.bbalip.2011.08.006
2012

Loss of Both ABCA1 and ABCG1 Results in Increased Disturbances in Islet Sterol Homeostasis, Inflammation, and Impaired beta-Cell Function
Diabetes
DOI: 10.2337/db11-1341
2012

Low Levels of Human HIP14 Are Sufficient to Rescue Neuropathological, Behavioural, and Enzymatic Defects Due to Loss of Murine HIP14 in Hip14-/- Mice
Plos One
DOI: 10.1371/journal.pone.0036315
2012

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice
Human Molecular Genetics
DOI: 10.1093/hmg/dds037
2012

miR-33a Modulates ABCA1 Expression, Cholesterol Accumulation, and Insulin Secretion in Pancreatic Islets
Diabetes
DOI: 10.2337/db11-0944
2012

More Codeine Fatalities After Tonsillectomy in North American Children
Pediatrics
DOI: 10.1542/peds.2011-2538
2012

NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2012.06.026
2012

Personalized Medicine: Temper Expectations Response
Science
2012

PHARMACOGENETIC INSIGHT INTO OXYCODONE: IMPLICATIONS TO BREASTFEEDING MOTHERS AND NEONATES DURING THE POSTPARTUM PERIOD
Clinical Pharmacology & Therapeutics
2012

Pharmacogenetics of Warfarin in Children
Pharmacoepidemiology and Drug Safety
2012

Pharmacogenomic Prediction of Anthracycline-Induced Cardiotoxicity in Children
Journal of Clinical Oncology
DOI: 10.1200/jco.2010.34.3467
2012

Polyglutamine diseases and the risk of cancer
Lancet Oncology
2012

Population stratification may bias analysis of PGC-1 alpha as a modifier of age at Huntington disease motor onset
Human Genetics
DOI: 10.1007/s00439-012-1205-z
2012

Postpartum Maternal Codeine Therapy and the Risk of Adverse Neonatal Outcomes: The Devil is in the Details
Therapeutic Drug Monitoring
DOI: 10.1097/FTD.0b013e31825da19f
2012

Prediction of Codeine Toxicity in Infants and Their Mothers Using a Novel Combination of Maternal Genetic Markers
Clinical Pharmacology & Therapeutics
DOI: 10.1038/clpt.2011.280
2012

Putting proteins in their place: Palmitoylation in Huntington disease and other neuropsychiatric diseases
Progress in Neurobiology
DOI: 10.1016/j.pneurobio.2011.11.002
2012

Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice
Human Molecular Genetics
DOI: 10.1093/hmg/dds005
2012

Segregation of LIPG, CETP, and GALNT2 Mutations in Caucasian Families with Extremely High HDL Cholesterol
Plos One
DOI: 10.1371/journal.pone.0037437
2012

TAA repeat variation in the GRIK2 gene does not influence age at onset in Huntington's disease
Biochemical and Biophysical Research Communications
DOI: 10.1016/j.bbrc.2012.06.120
2012

Transgenic Mouse Model Expressing the Caspase 6 Fragment of Mutant Huntingtin
Journal of Neuroscience
DOI: 10.1523/jneurosci.1305-11.2012
2012

Treatment of Na(v)1.7-mediated pain in inherited erythromelalgia using a novel sodium channel blocker
Pain
DOI: 10.1016/j.pain.2011.09.008
2012

What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration
Clinical Genetics
DOI: 10.1111/j.1399-0004.2011.01795.x
2012

Whole-Genome Sequencing: The New Standard of Care?
Science
DOI: 10.1126/science.1220967
2012

A grand challenge: Providing benefits of clinical genetics to those in need
Genetics in Medicine
DOI: 10.1097/GIM.0b013e31820c056e
2011

An Interaction of Genes in Our Social Environment: Genetic Discrimination among Persons at Risk for Huntington Disease
Challenging Genetic Determinism: New Perspectives on the Gene in Its Multiple Environments
2011

A Quantitative Method for the Specific Assessment of Caspase-6 Activity in Cell Culture
Plos One
DOI: e27680 10.1371/journal.pone.0027680
2011

Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2010.09.012
2011

Altered palmitoylation and neuropathological deficits in mice lacking HIP14
Human Molecular Genetics
DOI: 10.1093/hmg/ddr308
2011

Amelioration of Hypertriglyceridemia with Hypo-Alpha-Cholesterolemia in LPL Deficient Mice by Hematopoietic Cell-Derived LPL
Plos One
DOI: e25620 10.1371/journal.pone.0025620
2011

Caspase-6 and neurodegeneration
Trends in Neurosciences
DOI: 10.1016/j.tins.2011.09.001
2011

Cholesterol metabolism in Huntington disease
Nature Reviews Neurology
DOI: 10.1038/nrneurol.2011.132
2011

Convergent pathogenic pathways in Alzheimer's and Huntington's diseases: shared targets for drug development
Nature Reviews Drug Discovery
DOI: 10.1038/nrd3556
2011

CYP2D6 Polymorphisms and Codeine Analgesia in Postpartum Pain Management: A Pilot Study
Therapeutic Drug Monitoring
DOI: 10.1097/FTD.0b013e3182272b10
2011

Diagnostic Testing for Vaccinomics: Is the Regulatory Approval Framework Adequate? A Comparison of Canada, the United States, and Europe
Omics-a Journal of Integrative Biology
DOI: 10.1089/omi.2010.0135
2011

Factors Associated With Experiences of Genetic Discrimination Among Individuals at Risk for Huntington Disease
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.31130
2011

HTT haplotypes contribute to differences in Huntington disease prevalence between Europe and East Asia
European Journal of Human Genetics
DOI: 10.1038/ejhg.2010.229
2011

Islet Cholesterol Accumulation Due to Loss of ABCA1 Leads to Impaired Exocytosis of Insulin Granules
Diabetes
DOI: 10.2337/db11-0081
2011

Lessons from predictive testing for Huntington disease: 25 years on
Journal of Medical Genetics
DOI: 10.1136/jmedgenet-2011-100352
2011

Mice lacking caspase-2 are protected from behavioral changes, but not pathology, in the YAC128 model of Huntington disease
Molecular Neurodegeneration
DOI: 59 10.1186/1750-1326-6-59
2011

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity
Nature Medicine
DOI: 10.1038/nm.2313
2011

Natural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2011.03.018
2011

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans
Clinical Genetics
DOI: 10.1111/j.1399-0004.2011.01682.x
2011

Pharmacogenomics of Cardiovascular Drugs and Adverse Effects in Pediatrics
Journal of Cardiovascular Pharmacology
DOI: 10.1097/FJC.0b013e3182163b82
2011

Potent and Selective Antisense Oligonucleotides Targeting Single-Nucleotide Polymorphisms in the Huntington Disease Gene/Allele-Specific Silencing of Mutant Huntingtin
Molecular Therapy
DOI: 10.1038/mt.2011.201
2011

Regulatory Approval for New Pharmacogenomic Tests: A Comparative Overview
Food and Drug Law Journal
2011

Small Changes, Big Impact: Posttranslational Modifications and Function of Huntingtin in Huntington Disease
Neuroscientist
DOI: 10.1177/1073858410390378
2011

The Dynamics of Macrophage Infiltration into the Arterial Wall during Atherosclerotic Lesion Development in Low-Density Lipoprotein Receptor Knockout Mice
American Journal of Pathology
DOI: 10.1016/j.ajpath.2010.11.007
2011

Wild-type HTT modulates the enzymatic activity of the neuronal palmitoyl transferase HIP14
Human Molecular Genetics
DOI: 10.1093/hmg/ddr242
2011

A functional ABCA1 gene variant is associated with low HDL-cholesterol levels and shows evidence of positive selection in Native Americans
Human Molecular Genetics
DOI: 10.1093/hmg/ddq173
2010

Adenosine-Triphosphate-Binding Cassette Transporter-1 Trafficking and Function
Trends in Cardiovascular Medicine
2010

Adenosine-triphosphate-binding cassette transporter-1 trafficking and function (vol 20, pg 41, 2010)
Trends in Cardiovascular Medicine
DOI: 10.1016/j.tcm.2010.09.001
2010

BDNF Overexpression in the Forebrain Rescues Huntington's Disease Phenotypes in YAC128 Mice
Journal of Neuroscience
DOI: 10.1523/jneurosci.1637-10.2010
2010

CAG-Repeat Length and the Age of Onset in Huntington Disease (HD): A Review and Validation Study of Statistical Approaches
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.30992
2010

Carriers of Loss-of-Function Mutations in ABCA1 Display Pancreatic beta-Cell Dysfunction
Diabetes Care
DOI: 10.2337/dc09-1562
2010

CASPASE 6 RESISTANT MUTANT HUNTINGTIN DOES NOT RESCUE THE TOXIC EFFECTS OF CASPASE CLEAVABLE MUTANT HUNTINGTIN IN VIVO
Journal of Neurology Neurosurgery and Psychiatry
DOI: 10.1136/jnnp.2010.222570.4
2010

Cholesterol Defect Is Marked across Multiple Rodent Models of Huntington's Disease and Is Manifest in Astrocytes
Journal of Neuroscience
DOI: 10.1523/jneurosci.0917-10.2010
2010

Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice
Diabetologia
DOI: 10.1007/s00125-010-1691-2
2010

Cholesterol in beta-cell Dysfunction: The Emerging Connection Between HDL Cholesterol and Type 2 Diabetes
Current Diabetes Reports
DOI: 10.1007/s11892-009-0090-x
2010

Cholesterol toxicity in pancreatic islets from LDL receptor-deficient mice. Reply to: de Souza JC, de Oliveira CAM, Carneiro EM et al. letter
Diabetologia
DOI: 10.1007/s00125-010-1877-7
2010

Cleavage at the 586 Amino Acid Caspase-6 Site in Mutant huntingtin Influences Caspase-6 Activation In Vivo
Journal of Neuroscience
DOI: 10.1523/jneurosci.2071-10.2010
2010

Communicating Pharmacogenetic Research Results to Breastfeeding Mothers Taking Codeine: A Pilot Study of Perceptions and Benefits
Clinical Pharmacology & Therapeutics
DOI: 10.1038/clpt.2010.125
2010

CROSS SECTIONAL AND LONGITUDINAL 3T MAGNETIC RESONANCE SPECTROSCOPY IN A TRACK-HD COHORT OF INDIVIDUALS WITH PREMANIFEST AND EARLY HUNTINGTON'S DISEASE
Journal of Neurology Neurosurgery and Psychiatry
DOI: 10.1136/jnnp.2010.222653.6
2010

Dynamics of Macrophage Infiltration into the Arterial Wall at Different Stages of Atherosclerotic Lesion Development and Dependency on Macrophage ABCA1 Expression
Circulation
2010

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice
Neuron
DOI: 10.1016/j.neuron.2010.01.008
2010

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice (vol 65, pg 178, 2010)
Neuron
DOI: 10.1016/j.neuron.2010.01.031
2010

Effects of Endothelial Lipase Loss-of-Function Mutations on HDLc Levels in the General Population
Arteriosclerosis Thrombosis and Vascular Biology
2010

Fatal Hydrocodone Overdose in a Child: Pharmacogenetics and Drug Interactions
Pediatrics
DOI: 10.1542/peds.2009-1907
2010

Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression
Human Molecular Genetics
DOI: 10.1093/hmg/ddq026
2010

Glucose intolerance and decreased early insulin response in mice with severe hypertriglyceridemia
Experimental Biology and Medicine
DOI: 10.1258/ebm.2009.009100
2010

HDL and LDL cholesterol significantly influence beta-cell function in type 2 diabetes mellitus
Current Opinion in Lipidology
DOI: 10.1097/MOL.0b013e328339387b
2010

In Their Own Words: Reports of Stigma and Genetic Discrimination by People at Risk for Huntington Disease in the International RESPOND-HD Study
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.31080
2010

Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease
Neurology
DOI: 10.1212/WNL.0b013e3181fc27e4
2010

Mutation of conserved cysteines in the Ly6 domain of GPIHBP1 in familial chylomicronemia
Journal of Lipid Research
DOI: 10.1194/jlr.M002717
2010

Mycophenolate mofetil attenuates plaque inflammation in patients with symptomatic carotid artery stenosis
Atherosclerosis
DOI: 10.1016/j.atherosclerosis.2010.01.043
2010

NP03, A LOW DOSE LITHIUM MICROEMULSION, IMPROVES MOTOR FUNCTION AND RESCUES STRIATAL PATHOLOGY WITHOUT TOXICITY IN THE YAC128 MOUSE MODEL OF HUNTINGTON'S DISEASE
Journal of Neurology Neurosurgery and Psychiatry
DOI: 10.1136/jnnp.2010.222596.13
2010

Palmitoylation and function of glial glutamate transporter-1 is reduced in the YAC128 mouse model of Huntington disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2010.05.027
2010

Perception, Experience, and Response to Genetic Discrimination in Huntington Disease: The International RESPOND-HD Study
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.31079
2010

PHARMACOGENOMICS
Acta Paediatrica
2010

Pharmacogenomics and active surveillance for serious adverse drug reactions in children
Pharmacogenomics
DOI: 10.2217/pgs.10.111
2010

Phosphorylation of Huntingtin at Ser(421) in YAC128 Neurons Is Associated with Protection of YAC128 Neurons from NMDA-Mediated Excitotoxicity and Is Modulated by PP1 and PP2A
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.1589-10.2010
2010

The Canadian Pharmacogenomics Network for Drug Safety: A Model for Safety Pharmacology
Thyroid
DOI: 10.1089/thy.2010.1642
2010

The metabolic phenotype of SCD1-deficient mice is independent of melanin-concentrating hormone
Peptides
DOI: 10.1016/j.peptides.2009.10.018
2010

Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis
Human Molecular Genetics
DOI: 10.1093/hmg/ddq018
2010

TREATMENT WITH ARIMOCLOMOL DOES NOT LEAD TO RESCUE OF MOTOR OR STRIATAL DEFICITS IN THE YAC128 MOUSE MODEL OF HUNTINGTON'S DISEASE
Journal of Neurology Neurosurgery and Psychiatry
DOI: 10.1136/jnnp.2010.222596.12
2010

Unstable Familial Transmissions of Huntington Disease Alleles With 27-35 CAG Repeats (Intermediate Alleles)
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.30970
2010

Absence of stearoyl-CoA desaturase-1 does not promote DSS-induced acute colitis
Biochimica Et Biophysica Acta-Molecular and Cell Biology of Lipids
DOI: 10.1016/j.bbalip.2009.08.001
2009

Acute hypertriglyceridemic pancreatitis during pregnancy due to homozygous lipoprotein lipase gene mutation
Clinica Chimica Acta
DOI: 10.1016/j.cca.2008.10.016
2009

Adverse drug reaction active surveillance: developing a national network in Canada's children's hospitals
Pharmacoepidemiology and Drug Safety
DOI: 10.1002/pds.1772
2009

Age-Dependent Alterations of Corticostriatal Activity in the YAC128 Mouse Model of Huntington Disease
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.5687-08.2009
2009

Application of principal component analysis to pharmacogenomic studies in Canada
Pharmacogenomics Journal
DOI: 10.1038/tpj.2009.36
2009

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin
Nature Medicine
DOI: 10.1038/nm.2056
2009

CAG Expansion in the Huntington Disease Gene Is Associated with a Specific and Targetable Predisposing Haplogroup
American Journal of Human Genetics
DOI: 10.1010/j.ajhg.2009.02.003
2009

Despite Antiatherogenic Metabolic Characteristics, SCD1-Deficient Mice Have Increased Inflammation and Atherosclerosis
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/ATVBAHA.108.181099
2009

Differential Susceptibility to Excitotoxic Stress in YAC128 Mouse Models of Huntington Disease between Initiation and Progression of Disease
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.5473-08.2009
2009

Enhanced atherothrombotic formation after oxidative injury by FeCl(3) to the common carotid artery in severe combined hyperlipidemic mice
Biochemical and Biophysical Research Communications
DOI: 10.1016/j.bbrc.2009.05.101
2009

Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells
Gut
DOI: 10.1136/gut.2007.146258
2009

Gender differences in expression of the human caspase-12 long variant determines susceptibility to Listeria monocytogenes infection
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0813362106
2009

Genetic variants in TPMT and COMT are associated with hearing loss in children receiving cisplatin chemotherapy
Nature Genetics
DOI: 10.1038/ng.478
2009

Genotypic Approaches to Therapy in Children (GATC): Using Information Technology to Improve Drug Safety
Advances in Information Technology and Communication in Health
DOI: 10.3233/978-1-58603-979-0-209
2009

Haplotype Background, Repeat Length Evolution, and Huntington's Disease Response
American Journal of Human Genetics
DOI: 10.1016/j.ajhg.2009.11.006
2009

IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome
Journal of Cell Biology
DOI: 10.1083/jcb.200909067
2009

Interaction of Postsynaptic Density Protein-95 with NMDA Receptors Influences Excitotoxicity in the Yeast Artificial Chromosome Mouse Model of Huntington's Disease
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.2491-09.2009
2009

Mouse models of Huntington disease: variations on a theme
Disease Models & Mechanisms
DOI: 10.1242/dmm.002451
2009

Mutant Huntingtin N-terminal Fragments of Specific Size Mediate Aggregation and Toxicity in Neuronal Cells
Journal of Biological Chemistry
DOI: 10.1074/jbc.M804813200
2009

Neuronal palmitoyl acyl transferases exhibit distinct substrate specificity
Faseb Journal
DOI: 10.1096/fj.08-127399
2009

Palmitoylation of ATP-Binding Cassette Transporter A1 Is Essential for Its Trafficking and Function
Circulation Research
DOI: 10.1161/CIRCRESAHA.108.193011
2009

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey
British Medical Journal
DOI: 10.1136/bmj.b2175
2009

Pharmacogenetics of Neonatal Opioid Toxicity Following Maternal Use of Codeine During Breastfeeding: A Case-Control Study
Clinical Pharmacology & Therapeutics
DOI: 10.1038/clpt.2008.157
2009

Phosphorylation of huntingtin reduces the accumulation of its nuclear fragments
Molecular and Cellular Neuroscience
DOI: 10.1016/j.mcn.2008.09.007
2009

Plasma apolipoprotein AV levels in mice are positively associated with plasma triglyceride levels
Journal of Lipid Research
DOI: 10.1194/jlr.M800551-JLR200
2009

Presynaptic defects impair learning and memory function in lipoprotein lipase deficient mice
Journal of Neurochemistry
2009

Presynaptic Defects Underlying Impaired Learning and Memory Function in Lipoprotein Lipase-Deficient Mice
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.0297-09.2009
2009

Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin
Brain
DOI: 10.1093/brain/awp006
2009

Specific Loss of Brain ABCA1 Increases Brain Cholesterol Uptake and Influences Neuronal Structure and Function
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.4741-08.2009
2009

Tetrabenazine
Nature Reviews Drug Discovery
DOI: 10.1038/nrd2784
2009

The role of free fatty acids, pancreatic lipase and Ca(2+) signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice
Acta Physiologica
DOI: 10.1111/j.1748-1716.2008.01933.x
2009

Tissue-Specific Roles of ABCA1 Influence Susceptibility to Atherosclerosis
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/ATVBAHA.108.182303
2009

A humanized BAC transgenic/knockout mouse model for human caspase-12 polymorphism
Cytokine
DOI: 10.1016/j.cyto.2008.07.091
2008

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease
Journal of Experimental Medicine
DOI: 10.1084/jem.20080178
2008

A toxicogenetic case-control study of codeine toxicity during breastfeeding
Clinical Pharmacology & Therapeutics
2008

A toxicogenetic case-control study of codeine toxicity during breastfeeding.
Clinical Pharmacology & Therapeutics
2008

ABCA1 Gene Mutations, HDL Cholesterol Levels, and Risk of Ischemic Heart Disease
Jama-Journal of the American Medical Association
DOI: 10.1001/jama.2008.539
2008

Absence of stearoyl-CoA desaturase-1 ameliorates features of the metabolic syndrome in LDLR-deficient mice
Journal of Lipid Research
DOI: 10.1194/jlr.M700478-JLR200
2008

Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddn175
2008

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus
Human Molecular Genetics
DOI: 10.1093/hmg/ddn139
2008

Activation of caspase-6 is an early event in acute and chronic models of Huntington's disease
Journal of Neurology Neurosurgery and Psychiatry
2008

Automated deformation analysis in the YAC128 Huntington disease mouse model
Neuroimage
DOI: 10.1016/j.neuroimage.2007.08.033
2008

Carriers of Loss-of-Function Mutations in ABCA1 Display Pancreatic Beta Cell Dysfunction
Circulation
2008

Caspases-2 and 6 as drug targets in Huntington's disease
Journal of Neurology Neurosurgery and Psychiatry
2008

Cholesterol in islet dysfunction and type 2 diabetes
Journal of Clinical Investigation
DOI: 10.1172/JCI33296
2008

Cortical thickness measured from MRI in the YAC128 mouse model of Huntington's disease
Neuroimage
DOI: 10.1016/j.neuroimage.2008.02.019
2008

Detection of Huntington's disease decades before diagnosis: the Predict-HD study
Journal of Neurology Neurosurgery and Psychiatry
DOI: 10.1136/jnnp.2007.128728
2008

Engagement with genetic discrimination: concerns and experiences in the context of Huntington disease
European Journal of Human Genetics
DOI: 10.1038/sj.ejhg.5201937
2008

Full length mutant huntingtin is required for altered Ca2+ signaling and apoptosis of striatal neurons in the YAC mouse model of Huntington's disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2008.03.010
2008

Intermediate alleles for Huntington's disease: Patient understanding and current genetic counselling practices
Journal of Neurology Neurosurgery and Psychiatry
2008

Intramuscular Administration of AAV1-Lipoprotein Lipase(S447X) Lowers Triglycerides in Lipoprotein Lipase-Deficient Patients
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/ATVBAHA.108.175620
2008

Is LPL deficiency atherogenic? Response
Circulation Research
DOI: 10.1161/CIRCRESAHA.108.178715
2008

Mechanisms of altered N-methyl-D-aspartate receptor-mediated calcium signaling in the YAC mouse model of Huntington's disease
Journal of General Physiology
2008

Perceptions of discrimination among persons who have undergone predictive testing for Huntington's disease
American Journal of Medical Genetics Part B-Neuropsychiatric Genetics
DOI: 10.1002/ajmg.b.30600
2008

Polyglutamine-Modulated Striatal Calpain Activity in YAC Transgenic Huntington Disease Mouse Model: Impact on NMDA Receptor Function and Toxicity
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.4619-08.2008
2008

Protective up-regulation of CK2 by mutant huntingtin in cells co-expressing NMDA receptors
Journal of Neurochemistry
DOI: 10.1111/j.1471-4159.2007.05016.x
2008

Re: Autopsy-proven Huntington's disease with 29 trinucleotide repeats
Movement Disorders
DOI: 10.1002/mds.21820
2008

Spontaneous atherosclerosis in aged lipoprotein lipase-deficient mice with severe hypertriglyceridemia on a normal chow diet
Circulation Research
DOI: 10.1161/CIRCRESAHA.107.156554
2008

Altered NMDA receptor trafficking in a yeast artificial chromosome transgenic mouse model of Huntington's disease
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.4356-06.2007
2007

beta-cell ABCA1 influences insulin secretion, glucose homeostasis and response to thiazolidinedione treatment
Nature Medicine
DOI: 10.1038/nm1546
2007

Beyond disgust: impaired recognition of negative emotions prior to diagnosis in Huntington's disease
Brain
DOI: 10.1093/brain/awm107
2007

CAG-encoded polyglutamine length polymorphism in the human genome
Bmc Genomics
DOI: 10.1186/1471-2164-8-126
2007

Canadian national active surveillance network for adverse drug reactions: Genotypic approaches to therapy in children (GATC): The first year
Pharmacoepidemiology and Drug Safety
2007

Cholesterol biosynthesis pathway is disturbed in YAC128 mice and is modulated by huntingtin mutation
Human Molecular Genetics
DOI: 10.1093/hmg/ddm170
2007

Evaluation of recombinant AAV1 produced in insect cells for muscle-directed gene transfer
Human Gene Therapy
2007

Expression of LPL in endothelial-intact artery results in lipid deposition and vascular cell adhesion molecule-1 upregulation in both LPL and ApoE-deficient mice
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/01.ATV.0000249683.80414.d9
2007

Genotypic approaches to therapy in children - A national active surveillance network (GATC) to study the pharmacogenomics of severe adverse drug reactions in children
Autoimmunity, Pt B: Novel Applications of Basic Research
DOI: 10.1196/annals.1423.020
2007

Glutamate receptor abnormalities in the YAC128 transgenic mouse model of Huntington's disease
Neuroscience
DOI: 10.1016/j.neuroscience.2007.03.010
2007

Huntingtin-interacting protein 1 influences worm and mouse presynaptic function and protects Caenorhabditis elegans neurons against mutant polyglutamine toxicity
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.1941-07.2007
2007

Lessons learned on the design of a pharmacogenomic study
Pharmacoepidemiology and Drug Safety
2007

Loss-of-function mutations in the Na(v)1.7 gene underlie congenital indifference to pain in multiple human populations
Clinical Genetics
DOI: 10.1111/j.1399-0004.2007.00790.x
2007

Managing genetic discrimination: Strategies used by individuals found to have the Huntington disease mutation
Clinical Genetics
DOI: 10.1111/j.1399-0004.2007.00770.x
2007

Mitochondrial sensitivity and altered calcium handling underlie enhanced NMDA-induced apoptosis in YAC128 model of Huntington's disease
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.3455-07.2007
2007

Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage
Human Molecular Genetics
DOI: 10.1093/hmg/ddm133
2007

Mycophenolate mofetil and atherosclerosis - Results of animal and human studies
Autoimmunity, Pt B: Novel Applications of Basic Research
DOI: 10.1196/annals.1423.023
2007

N-terminal proteolysis of full-length mutant huntingtin in an inducible PC12 cell model of Huntington's disease
Cell Cycle
2007

NMDA receptor function and NMDA receptor-dependent phosphorylation of huntingtin is altered by the endocytic protein HIP1
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.5175-06.2007
2007

Pharmacogenomics and its implications for autoimmune disease
Journal of Autoimmunity
DOI: 10.1016/j.jaut.2007.02.008
2007

Phenotypic abnormalities in the YAC128 mouse model of Huntington disease are penetrant on multiple genetic backgrounds and modulated by strain
Neurobiology of Disease
DOI: 10.1016/j.nbd.2006.12.010
2007

Physiologically regulated transgenic ABCA1 does not reduce amyloid burden or amyloid-beta peptide levels in vivo
Journal of Lipid Research
DOI: 10.1194/jlr.M600543-JLR200
2007

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles. (vol 70, pg 283, 2006)
Clinical Genetics
2007

Selective degeneration in YAC mouse models of Huntington disease
Brain Research Bulletin
DOI: 10.1016/j.brainresbull.2006.10.018
2007

Spontanous atherosclerosis in old LPL-Deficient mice with severe hypertriglyceridemia on a normal chow diet
Arteriosclerosis Thrombosis and Vascular Biology
2007

Structural abnormalities in spermatids together with reduced sperm counts and motility underlie the reproductive defect in HIP1(-/-) mice
Molecular Reproduction and Development
DOI: 10.1002/mrd.20564
2007

Testicular degeneration in Huntington disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2007.01.006
2007

Verbal episodic memory declines prior to diagnosis in Huntington's disease
Neuropsychologia
DOI: 10.1016/j.neuropsychologia.2006.12.015
2007

When good drugs go bad
Nature
DOI: 10.1038/446975a
2007

A gene therapy approach to treat human lipoprotein lipase deficiency
Atherosclerosis Supplements
DOI: 10.1016/S1567-5688(06)80052-8
2006

Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0510197103
2006

Body weight is modulated by levels of full-length Huntingtin
Human Molecular Genetics
DOI: 10.1093/hmg/ddl072
2006

Both hepatic and extrahepatic ABCA1 are essential for the maintenance of plasma HDL-C levels in vivo
Atherosclerosis Supplements
DOI: 10.1016/S1567-5688(06)82182-3
2006

Both hepatic and extrahepatic ABCA1 have discrete and essential functions in the maintenance of plasma high-density lipoprotein cholesterol levels in vivo
Circulation
DOI: 10.1161/CIRCULATIONAHA.106.621433
2006

Brain-derived neurotrophic factor does not influence age at neurologic onset of Huntington's disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2006.07.008
2006

Cerebrospinal fluid levels of orexin-A are not a clinically useful biomarker for Huntington disease
Clinical Genetics
DOI: 10.1111/j.1399-0004.2006.00636.x
2006

Cleavage at the caspase-6 site is required for neuronal dysfunction and degeneration due to mutant huntingtin
Cell
DOI: 10.1016/j.cell.2006.04.026
2006

Comparative assessment of seminal traits, ovarian responsiveness and in vitro fertilization in 15 domestic cat models of hereditary disease.
Biology of Reproduction
2006

Correction of feline lipoprotein lipase deficiency with adeno-associated virus serotype 1-mediated gene transfer of the lipoprotein lipase S447X beneficial mutation
Human Gene Therapy
DOI: 10.1089/hum.2006.17.487
2006

Critical role of ATP-binding cassette transporter a1 (ABCA1) in beta-cell function and glucose homeostasis
Circulation
2006

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice
Neurobiology of Disease
DOI: 10.1016/j.nbd.2006.02.011
2006

Elevated plasma triglyceride levels precede amyloid deposition in Alzheimer's disease mouse models with abundant A beta in plasma
Neurobiology of Disease
DOI: 10.1016/j.nbd.2006.06.007
2006

FASA-57 cDNA shares no homology with coding sequence of HD gene
Journal of Reproductive Immunology
DOI: 10.1016/j.jri.2005.10.002
2006

Gene therapy with lipoprotein lipase variant S447X - Response
Arteriosclerosis Thrombosis and Vascular Biology
2006

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study
Bmc Medical Genetics
DOI: 10.1186/1471-2350-7-71
2006

Hemorheological abnormalities in lipoprotein lipase deficient mice with severe hypertriglyceridemia
Biochemical and Biophysical Research Communications
DOI: 10.1016/j.bbrc.2006.01.067
2006

Hepatic ABCA1 is a key molecule in HDL cholesteryl ester metabolism in mice
Atherosclerosis Supplements
DOI: 10.1016/S1567-5688(06)80651-3
2006

Hepatic ATP-binding cassette transporter A1 is a key molecule in high-density lipoprotein cholesteryl ester metabolism in mice
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/01.ATV.0000229219.13757.a2
2006

Hippi is essential for node cilia assembly and Sonic hedgehog signaling
Developmental Biology
DOI: 10.1016/j.ydbio.2006.09.001
2006

Huntingtin inhibits caspase-3 activation
Embo Journal
DOI: 10.1038/sj.emboj.7601445
2006

Intestinal ABCA1 directly contributes to HDL biogenesis in vivo
Journal of Clinical Investigation
DOI: 10.1172/JCI27352
2006

Is tetrabenazine safe and effective for suppressing chorea in Huntington's disease?
Nature Clinical Practice Neurology
DOI: 10.1038/ncpneuro0299
2006

Levels of mutant huntingtin influence the phenotypic severity of Huntington disease in YAC128 mouse models
Neurobiology of Disease
DOI: 10.1016/j.nbd.2005.08.007
2006

Lipoprotein lipase S447X - A naturally occurring gain-of-function mutation
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/01.ATV.0000219283.10832.43
2006

Macrophage ATP-binding cassette transporter A1 overexpression inhibits atherosclerotic lesion progression in low-density lipoprotein receptor knockout mice
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/01.ATV.0000208364.22732.16
2006

Mitochondrial-dependent Ca2+ handling in Huntington's disease striatal cells: Effect of histone deacetylase inhibitors
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.3004-06.2006
2006

Mutant Huntingtin: Nuclear translocation and cytotoxicity mediated by GAPDH
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0511316103
2006

Mycophenolate mofetil (MMF): Firing at the atherosclerotic plaque from different angles?
Cardiovascular Research
DOI: 10.1016/j.cardiores.2005.09.018
2006

Mycophenolate mofetil and animal models
Lupus
DOI: 10.1177/0961203306071675
2006

Mycophenolate mofetil as an immunomodulatory silver bullet in atherogenesis?
Lupus
DOI: 10.1177/0961203306071670
2006

Palmitoylation of huntingtin by HIP14 is essential for its trafficking and function
Nature Neuroscience
DOI: 10.1038/nn1702
2006

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles
Clinical Genetics
DOI: 10.1111/j.1399-0004.2006.00668.x
2006

Preparing for preventive clinical trials - The predict-HD study
Archives of Neurology
DOI: 10.1001/archneur.63.6.883
2006

Selective deficiency of hepatic ABCA1 results in increased susceptibility to atherosclerosis
Circulation
2006

Specific mutations in ABCA1 have discrete effects on ABCA1 function and lipid phenotypes both in vivo and in vitro
Circulation Research
DOI: 10.1161/01.RES.0000237920.70451.ad
2006

Striatal neuronal apoptosis is preferentially enhanced by NMDA receptor activation in YAC transgenic mouse model of Huntington disease
Neurobiology of Disease
DOI: 10.1016/j.nbd.2005.08.001
2006

Testicular degeneration in Huntington's disease
Movement Disorders
2006

Tissue-specific induction of intestinal ABCA1 expression with a liver x receptor agonist raises plasma HDL cholesterol levels
Circulation Research
DOI: 10.1161/01.RES.0000244014.19589.8e
2006

To be or not to be toxic: aggregations in Huntington and Alzheimer disease
Trends in Genetics
DOI: 10.1016/j.tig.2006.05.008
2006

Variations on a gene: Rare and common variants in ABCA1 and their impact on HDL cholesterol levels and atherosclerosis
Annual Review of Nutrition
DOI: 10.1146/annurev.nutr.26.061505.111214
2006

Wild-type huntingtin ameliorates striatal neuronal atrophy but does not prevent other abnormalities in the YAC128 mouse model of Huntington disease
Bmc Neuroscience
DOI: 10.1186/1471-2202-7-80
2006

Wild-type huntingtin protects neurons from excitotoxicity
Journal of Neurochemistry
DOI: 10.1111/j.1471-4159.2005.03605.x
2006

Absence of behavioral abnormalities and neurodegeneration in vivo despite widespread neuronal huntingtin inclusions
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0503634102
2005

Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene
Plos Genetics
DOI: 10.1371/journal.pgen.0010083
2005

Alternate transcripts expressed in response to diet reflect tissue-specific regulation of ABCA1
Journal of Lipid Research
DOI: 10.1194/jlr.M500133-JLR200
2005

Cardiovascular disease in systemic lupus erythematosus: has the time for action come?
Current Opinion in Lipidology
DOI: 10.1097/01.mol.0000182533.19135.cb
2005

Cognitive dysfunction precedes neuropathology and motor abnormalities in the YAC128 mouse model of Huntington's disease
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.0590-05.2005
2005

Complete functional rescue of the ABCA1(-/-) mouse by human BAC transgenesis
Journal of Lipid Research
DOI: 10.1194/jlr.M400506-JLR200
2005

Complete rescue of lipoprotein lipase-deficient mice by somatic gene transfer of the naturally occurring LPLS447X beneficial mutation
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/01.ATV.0000176971.27302.b0
2005

Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood
Neurobiology of Disease
DOI: 10.1016/j.nbd.2004.10.002
2005

Cystamine treatment is neuroprotective in the YAC128 mouse model of Huntington disease
Journal of Neurochemistry
DOI: 10.1111/j.1471-4159.2005.03357.x
2005

Disturbed Ca2+ signaling and apoptosis of medium spiny neurons in Huntington's disease
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0409402102
2005

Effects of CAG repeat length, HTT protein length and protein context on cerebral metabolism measured using magnetic resonance spectroscopy in transgenic mouse models of Huntington's disease
Journal of Neurochemistry
DOI: 10.1111/j.1471-4159.2005.03411.x
2005

Essential role of ABCA1 in HDL catabolism in mice
Arteriosclerosis Thrombosis and Vascular Biology
2005

Ethyl-EPA in Huntington disease - A double-blind, randomized, placebo-controlled trial
Neurology
DOI: 10.1212/01.wnl.0000169025.09670.6d
2005

Ethyl-EPA in Huntington's disease: A double blind, randomised, placebo controlled trial
Journal of Neurology Neurosurgery and Psychiatry
2005

Ethyl-EPA treatment improves motor dysfunction, but not neurodegeneration in the YAC128 mouse model of Huntington disease
Experimental Neurology
DOI: 10.1016/j.expneurol.2005.07.021
2005

From genes to therapies: AAV-mediated gene therapy for LPL deficiency
Circulation
2005

Gene therapy for lipoprotein lipase deficiency: Working toward clinical application
Human Gene Therapy
DOI: 10.1089/hum.2005.16.1276
2005

Histone acetylation and recovery from excitotoxicity in striatal cells expressing full length mutant huntingtin
Journal of Neurology Neurosurgery and Psychiatry
2005

HOXA7 protein expression in human normal ovary
Journal of the Society for Gynecologic Investigation
2005

Huntingtin associates with acidic phospholipids at the plasma membrane
Journal of Biological Chemistry
DOI: 10.1074/jbc.M503672200
2005

Huntingtin interacting protein 1 (HIP1) regulates clathrin assembly through direct binding to the regulatory region of the clathrin light chain
Journal of Biological Chemistry
DOI: 10.1074/jbc.M408430200
2005

Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo
Human Molecular Genetics
DOI: 10.1093/hmg/ddi165
2005

Huntington's disease: Lessons for ChAc
Movement Disorders
2005

Increased expression of ABCA1 provides significant protection against atherosclerosis
Circulation
2005

Intestinal ABCA1 is a significant contributor to plasma HDL-C and apoB levels in vivo
Circulation
2005

Introduction to social and behavioural research in genetics
Clinical Genetics
DOI: 10.1111/j.1399-0004.2005.00464.x
2005

Links between proteolysis and neurotoxicity identify novel approaches for modifying the pathogenesis of Huntington's disease
Journal of Neurology Neurosurgery and Psychiatry
2005

Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddi147
2005

MR spectroscopy shows metabolic changes in transgenic Huntington's disease mice
Nordic Journal of Psychiatry
2005

Selective degeneration and nuclear localisation of mutant huntingtin in the YAC128 mouse model of Huntington's disease
Journal of Neurology Neurosurgery and Psychiatry
2005

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddi407
2005

Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I
Journal of Clinical Investigation
DOI: 10.1172/JCI200523915
2005

The absence of ABCA1 decreases soluble ApoE levels but does not diminish amyloid deposition in two murine models of Alzheimer disease
Journal of Biological Chemistry
DOI: 10.1074/jbc.M508781200
2005

Tissue specific deletion of enterocyte ABCA1 identifies the intestine as a significant source of plasma HDL cholesterol in vivo
Arteriosclerosis Thrombosis and Vascular Biology
2005

Transglutaminases in Huntington disease (HD)
Journal of Neurochemistry
2005

Treatment of YAC128 mice and their wild-type littermates with cystamine does not lead to its accumulation in plasma or brain: implications for the treatment of Huntington disease
Journal of Neurochemistry
DOI: 10.1111/j.1471-4159.2005.03255.x
2005

W10 regulation of plasma HDL levels and metabolism
Atherosclerosis Supplements
DOI: 10.1016/s1567-5688(05)80183-7
2005

A homozygous HAMP mutation in a multiply consanguineous family with pseudo-dominant juvenile hemochromatosis
Clinical Genetics
DOI: 10.1111/j.0009-9163.2004.00254.x
2004

Huntington's disease-like 2 (HFL2) in North America and Japan (vol 56, pg 670, 2004)
Annals of Neurology
DOI: 10.1002/ana.20349
2004

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length
Clinical Genetics
DOI: 10.1111/j.1399-0004.2004.00241.x
2004

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length (vol 65, pg 267, 2004)
Clinical Genetics
DOI: 10.1111/j.1399-0004.2004.00299.x
2004

A novel ApoA-I mutation (L178P) leads to endothelial dysfunction, increased arterial wall thickness, and premature coronary artery disease
Journal of the American College of Cardiology
DOI: 10.1016/j.jacc.2004.06.070
2004

ABCA1 modulates APOE levels in brain and plasma
Neurobiology of Aging
DOI: 10.1016/s0197-4580(04)80050-2
2004

ABCA1-mediated lipid transport from both the liver and the periphery are essential for maintenance of plasma HDL levels in vivo
Circulation
2004

Clinical and radiographic features among presymptomatic individuals carrying an expanded CAG repeat in the Huntington's disease gene: Analysis of baseline characteristics of the PREDICT-HD cohort
Neurology
2004

Correction of dyslipidemia in murine and feline models of lipoprotein lipase deficiency by intramuscular administration of AAV1-LPLS447X
Molecular Therapy
2004

Deficiency of ABCA1 impairs apolipoprotein E metabolism in brain
Journal of Biological Chemistry
DOI: 10.1074/jbc.M407962200
2004

Deranged neuronal calcium signaling and Huntington disease
Biochemical and Biophysical Research Communications
DOI: 10.1016/j.bbrc.2004.08.035
2004

Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms
Nature
DOI: 10.1038/nature02451
2004

Enhanced striatal NR2B-containing N-methyl-D-aspartate receptor-mediated synaptic currents in a mouse model of Huntington disease
Journal of Neurophysiology
DOI: 10.1152/jn.00308.2004
2004

Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16
Neurogenetics
DOI: 10.1007/s10048-004-0175-2
2004

Expression of matrix metalloproteinase activity in idiopathic dilated cardiomyopathy: A marker of cardiac dilatation
Molecular and Cellular Biochemistry
DOI: 10.1023/B:MCBI.0000044387.04670.81
2004

Genetic testing and Huntington's disease: issues of employment
Lancet Neurology
DOI: 10.1016/S1474-4422(04)00711-2
2004

HAP1 facilitates effects of mutant huntingtin on inositol 1,4,5-trisphosphate-induced Ca2+ release in primary culture of striatal medium spiny neurons
European Journal of Neuroscience
DOI: 10.1111/j.1460-9568.2004.03633.x
2004

HDL deficiency and atherosclerosis: lessons from Tangier disease
Journal of Internal Medicine
DOI: 10.1046/j.0954-6820.2003.01256.x
2004

Humanized transgenic ABCA1 mice show complete functional rescue of mouse ABCA1 deficiency
Arteriosclerosis Thrombosis and Vascular Biology
2004

Huntingtin bodies sequester vesicle-associated proteins by a polyproline-dependent interaction
Journal of Neuroscience
DOI: 10.1523/JNEUROSCI.1409-03.2004
2004

Huntingtin-interacting protein HIP14 is a palmitoyl transferase involved in palmitoylation and trafficking of multiple neuronal proteins
Neuron
DOI: 10.1016/j.neuron.2004.11.027
2004

Huntington's disease-like 2 (HDL2) in North America and Japan
Annals of Neurology
DOI: 10.1002/ana.20248
2004

Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the study of Canadian genetic isolates
American Journal of Human Genetics
DOI: 10.1086/420795
2004

Inhibition of calpain cleavage of huntingtin reduces toxicity - Accumulation of calpain/caspase fragments in the nucleus
Journal of Biological Chemistry
DOI: 10.1074/jbc.M401267200
2004

Long-term correction of murine lipoprotein lipase deficiency with AAV1-mediated gene transfer of the naturally occurring LPLS447X beneficial mutation
Human Gene Therapy
DOI: 10.1089/1043034041839235
2004

Long-term lentiviral-mediated expression of ciliary neurotrophic factor in the striatum of Huntington's disease transgenic mice
Experimental Neurology
DOI: 10.1016/j.expneurol.2003.09.002
2004

Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro
Molecular and Cellular Biology
DOI: 10.1128/mcb.24.18.8195-8209.2004
2004

Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis
Nature Genetics
DOI: 10.1038/ng1274
2004

Mutations in LCAT, ApoA-I, and ABCA1 can be distinguished by NMR lipoprotein subphenotyping
Arteriosclerosis Thrombosis and Vascular Biology
2004

Palmitoylation of ABCA1 is required for its normal trafficking to the plasma membrane and for lipid efflux activity
Circulation
2004

Potentiation of NMDA receptor-mediated excitotoxicity linked with intrinsic apoptotic pathway in YAC transgenic mouse model of Huntington's disease
Molecular and Cellular Neuroscience
DOI: 10.1016/j.mcn.2003.11.014
2004

Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease
Cell Death and Differentiation
DOI: 10.1038/sj.cdd.4401358
2004

The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility
Journal of Lipid Research
DOI: 10.1194/jlr.M400007-JLR200
2004

The contribution of hepatic adenosine triphosphate-binding cassette transporter, ABCA1, to high-density lipoprotein cholesterol levels in vivo.
Journal of Investigative Medicine
2004

The endocytic protein HIP1 influences NMDAR function
Molecular Biology of the Cell
2004

Tissue-specific hepatic deletion of ABCA1 indicates that the liver is the primary site of HDL formation in vivo
Arteriosclerosis Thrombosis and Vascular Biology
2004

A genetic, biochemical and proteomic approach to dissection of inherited HDL phenotypes in humans
Atherosclerosis Supplements
DOI: 10.1016/s1567-5688(03)90594-0
2003

A genome scan for modifiers of age at onset in Huntington disease: The HD MAPS study
American Journal of Human Genetics
DOI: 10.1086/378133
2003

A genome scan for modifiers of age at onset in Huntington's disease: The HD MAPS study
American Journal of Human Genetics
2003

A novel apoA-I mutation (Leu178Pro), identified by whole genome linkage approach, predisposes to endothelial dysfunction, increased arterial wall thickness and premature coronary artery disease
Atherosclerosis Supplements
DOI: 10.1016/S1567-5688(03)90113-9
2003

A novel apoAl mutation (Leu178Pro) leads to severely disturbed HDL metabolism, endothelial dysfunction, increased arterial wall thickness and premature coronary artery disease
Circulation
2003

A novel CETP mutation (IVS7+1) in a family of Dutch descent with hyperalphalipoproteinemia
Circulation
2003

A role for epsin N-terminal homology/AP180 N-terminal homology (ENTH/ANTH) domains in tubulin binding
Journal of Biological Chemistry
DOI: 10.1074/jbc.M300995200
2003

ABCA1 is essential for efficient basolateral cholesterol efflux during the absorption of dietary cholesterol in chickens
Journal of Biological Chemistry
DOI: 10.1074/jbc.M212377200
2003

Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element
Molecular and Cellular Probes
DOI: 10.1016/S0890-8508(03)00050-1
2003

Alterations of plasma lipids in mice via adenoviral-mediated hepatic overexpression of human ABCA1
Journal of Lipid Research
DOI: 10.1194/jlr.M300110-JLR200
2003

An ALS2 gene mutation causes hereditary spastic paraplegia in a Pakistani kindred
Annals of Neurology
DOI: 10.1002/ana.10422
2003

Biochemical characterization of mutations in ABCA1 correlate with disease severity
Atherosclerosis Supplements
DOI: 10.1016/s1567-5688(03)90587-3
2003

Caudate volume as an outcome measure in clinical trials for Huntington's disease: a pilot study
Brain Research Bulletin
DOI: 10.1016/j.brainresbull.2003.09.005
2003

Clarity is essential when using nucleotide number systems
Atherosclerosis
DOI: 10.1016/S0021-9150(03)00234-X
2003

Depletion of wild-type huntingtin in mouse models of neurologic diseases
Journal of Neurochemistry
DOI: 10.1046/j.1471-4159.2003.01980.x
2003

Disruption of the endocytic protein HIP1 results in major neurological deficits and decreased AMPA receptor trafficking
American Journal of Human Genetics
2003

Disruption of the endocytic protein HIP1 results in neurological deficits and decreased AMPA receptor trafficking
Embo Journal
DOI: 10.1093/emboj/cdg334
2003

Distinct cellular and biochemical effects of specific mutations in ABCA1 predicts the phenotype in TD and FHA
American Journal of Human Genetics
2003

Dosage effects of riluzole in Huntington's disease - A multicenter placebo-controlled study
Neurology
2003

Efflux and atherosclerosis - The clinical and biochemical impact of variations in the ABCA1 gene
Arteriosclerosis Thrombosis and Vascular Biology
DOI: 10.1161/01.ATV.0000078520.89539.77
2003

Functional analysis of mutations in the ABCA1 gene
Journal of Investigative Medicine
2003

Functional effects of tissue-specific expression of ATP-cassette transporter A1 (ABCA1) provide multiple mechanisms for protection against atherosclerosis
Atherosclerosis Supplements
DOI: 10.1016/s1567-5688(03)91163-9
2003

Heterozygosity for ABCA1 gene mutations: effects on enzymes, apolipoproteins and lipoprotein particle size
Atherosclerosis
DOI: 10.1016/j.atherosclerosis.2003.08.014
2003

Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
Brain
DOI: 10.1093/brain/awg077
2003

Huntingtin and huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1
American Journal of Human Genetics
2003

Huntingtin and Huntingtin-associated protein 1 influence neuronal calcium signaling mediated by inositol-(1,4,5) triphosphate receptor type 1
Neuron
DOI: 10.1016/S0896-6273(03)00366-0
2003

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes
Nature Genetics
DOI: 10.1038/ng1219
2003

Huntingtin proteolysis in Huntington disease
Clinical Neuroscience Research
DOI: 10.1016/S1566-2772(03)00055-0
2003

Huntington's disease - Preface
Clinical Neuroscience Research
DOI: 10.1016/S1566-2772(03)00053-7
2003

Interaction of normal and expanded CAG repeat sizes influences age at onset of Huntington disease
American Journal of Medical Genetics Part A
DOI: 10.1002/ajmg.a.20190
2003

Long-term correction of murine lipoprotein lipase (LPL) deficiency by a single intramuscular administration of AAV1-LPLS447X
Circulation
2003

Long-term correction of murine lipoprotein lipase deficiency by single intramuscular administration of AAV1-LPLS447X
Molecular Therapy
2003

Macrophage ABCA1 overexpression inhibits atherosclerotic lesion progression
Atherosclerosis Supplements
DOI: 10.1016/S1567-5688(03)90585-X
2003

Macrophage-specific ATP-Binding cassette transporter 1 (ABCA1) overexpression inhibits atherosclerotic lesion progression
Circulation
2003

Mutant frizzled-4 (FZD4) causes autosomal dominant familial exudative vitreoretinopathy (FEVR) with variable intrafamilial phenotype
Investigative Ophthalmology & Visual Science
2003

Mutation screening of the ALS2 gene in sporadic and familial amyotrophic lateral sclerosis
Archives of Neurology
DOI: 10.1001/archneur.60.12.1768
2003

Mutations in a novel gene cause hereditary sensory and autonomic neuropathy type II
American Journal of Human Genetics
2003

Mutations in the HFE2A gene cause juvenile hemochromatosis
American Journal of Human Genetics
2003

Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity
Journal of Biological Chemistry
DOI: 10.1074/jbc.M211224200
2003

Predictive testing for Huntington's disease: a universal model?
Lancet Neurology
DOI: 10.1016/S1474-4422(03)00317-X
2003

Predictive testing for persons at risk for homozygosity for CAG expansion in the Huntington disease gene
Clinical Genetics
DOI: 10.1046/j.1399-0004.2003.00155.x
2003

Predictive, pre-natal and diagnostic genetic testing for Huntington's disease: the experience in Canada from 1987 to 2000
Clinical Genetics
DOI: 10.1034/j.1399-0004.2003.00093.x
2003

Pro-survival effects of wild-type huntingtin in vivo.
American Journal of Human Genetics
2003

Psychological consequences and predictors of adverse events in the first 5 years after predictive testing for Huntington's disease
Clinical Genetics
DOI: 10.1034/j.1399-0004.2003.00157.x
2003

Restoration of endothelial function by increasing HDL in subjects with isolated low-HDL
Atherosclerosis Supplements
DOI: 10.1016/S1567-5688(03)91303-1
2003

Restoration of endothelial function by increasing high-density lipoprotein in subjects with isolated low high-density lipoprotein
Circulation
DOI: 10.1161/01.CIR.0000070934.69310.1A
2003

Role of NR2B-type NMDA receptors in selective neurodegeneration in Huntington disease
Neurobiology of Aging
DOI: 10.1016/j.neurobiolaging.2003.04.003
2003

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease
Human Molecular Genetics
DOI: 10.1093/hmg/ddg169
2003

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings
Clinical Genetics
DOI: 10.1034/j.1399-0004.2003.00138.x
2003

The role of the ABCA1 transporter and cholesterol efflux in familial hypoalphalipoproteinemia
Journal of Lipid Research
DOI: 10.1194/jlr.M300080-JLR200
2003

Working towards clinical application of gene therapy for LPL deficiency
Circulation
2003

A whole genome linkage approach identifies a novel ApoA1 mutation causing five percent of familial hypoalphalipoproteinemia in the Dutch population.
American Journal of Human Genetics
2002

A whole genome linkage approach leads to successful identification of a novel apoA1 mutation causing five percent of familial high-density lipoprotein deficiency in the Dutch population
Circulation
2002

ABCA1 mRNA and protein distribution patterns predict multiple different roles and levels of regulation
Laboratory Investigation
2002

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels
Clinical Genetics
DOI: 10.1034/j.1399-0004.2002.610206.x
2002

Association between increased arterial-wall thickness and impairment in ABCA1-driven cholesterol efflux: an observational study
Lancet
DOI: 10.1016/S0140-6736(02)07277-X
2002

Caspase cleavage of mutant huntingtin precedes neurodegeneration in Huntington's disease
Journal of Neuroscience
2002

Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines
Nature Neuroscience
DOI: 10.1038/nn884
2002

Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency
Biochemical and Biophysical Research Communications
DOI: 10.1006/bbrc.2001.6219
2002

Frizzled-4 mutations disrupt retinal angiogenesis in familial exudative vitreoretinopathy (FEVR)
American Journal of Human Genetics
2002

HIP1 and HIP12 display differential binding to F-actin, AP2, and clathrin - Identification of a novel interaction with clathrin light chain
Journal of Biological Chemistry
DOI: 10.1074/jbc.M112310200
2002

HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis
Human Molecular Genetics
DOI: 10.1093/hmg/11.23.2815
2002

Identification and functional analysis of a naturally occurring E89K mutation in the ABCA1 gene of the WHAM chicken
Journal of Lipid Research
DOI: 10.1194/jlr.M200223-JLR200
2002

Increased ABCA1 activity protects against atherosclerosis
Journal of Clinical Investigation
DOI: 10.1172/JCI200215748
2002

Increased HDL and changes in lipoprotein composition are associated with increased efflux and atheroprotection in an ABCA1 BAC transgenic mouse model
Circulation
2002

Increased huntingtin protein length reduces the number of polyglutamine-induced gene expression changes in mouse models of Huntington's disease
Human Molecular Genetics
DOI: 10.1093/hmg/11.17.1939
2002

Increased sensitivity to N-methyl-D-aspartate receptor-mediated excitotoxicity in a mouse model of Huntington's disease
Neuron
DOI: 10.1016/S0896-6273(02)00615-3
2002

Long-term efficacy of a single administration of AAV lipoprotein lipase gene therapy corrects murine hypertriglyceridemia and raises HDL
Circulation
2002

Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract
Nature Genetics
DOI: 10.1038/ng921
2002

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy
Nature Genetics
DOI: 10.1038/ng957
2002

Nuclear localization of a truncation product of mutant atrophin-1, increases cellular toxicity
Molecular Biology of the Cell
2002

Phenotypic description of hereditary sensory neuropathy type 1A (HSN 1A) in two kindreds segregating the same mutation in the gene encoding serine palmitoyl transferase long chain subunit
American Journal of Human Genetics
2002

PKA site-specific phosphorylation of ABCA1 regulates ApoA-1-dependent phospholipid efflux
Circulation
2002

Protein kinase a site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux
Journal of Biological Chemistry
DOI: 10.1074/jbc.M204923200
2002

Proteomics of clathrin-coated vesicles: Identification of novel endocytic proteins
Faseb Journal
2002

Recruitment and activation of caspase-8 by the Huntingtin-interacting protein Hip-1 and a novel partners Hippi
Nature Cell Biology
DOI: 10.1038/ncb735
2002

Relationship between stearoyl-CoA desaturase activity and plasma triglycerides in human and mouse hypertriglyceridemia
Journal of Lipid Research
DOI: 10.1194/jlr.M200189-JLR200
2002

Skewed XCl in women experiencing a pregnancy with meiotic nondisjunction.
American Journal of Human Genetics
2002

Striatal neurochemical changes in transgenic models of Huntington's disease
Journal of Neuroscience Research
DOI: 10.1002/jnr.10272
2002

Structural and functional consequences of missense mutations in exon 5 of the lipoprotein lipase gene
Journal of Lipid Research
2002

Targeted disruption of Huntingtin-associated protein-1 (Hap1) results in postnatal death due to depressed feeding behavior
Human Molecular Genetics
DOI: 10.1093/hmg/11.8.945
2002

Truncation mutations in ABCA1 suppress normal upregulation of full-length ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol
Journal of Lipid Research
DOI: 10.1194/jlr.M200277-JLR200
2002

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
Nature Genetics
DOI: 10.1038/ng1001-166
2001

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2 (vol 29, pg 166, 2001)
Nature Genetics
2001

A one-hit model of cell death in inherited neuronal degenerations (vol 406, pg 195, 2000)
Nature
2001

ABCA1 regulatory variants influence coronary artery disease (CAD) independent of effects on plasma lipid levels.
Circulation
2001

Clinical markers of early disease in persons near onset of Huntington's disease
Neurology
2001

Cloning and characterization of three novel genes, ALS2CR1, ALS2CR2, and ALS2CR3, in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: Candidate genes for ALS2
Genomics
DOI: 10.1006/geno.2000.6392
2001

Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease
Circulation
2001

Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population
Atherosclerosis
DOI: 10.1016/S0021-9150(00)00670-5
2001

Common variants in the lipoprotein lipase gene play a significant role in the pathogenesis of HDL-C deficiency in men with coronary heart disease
Arteriosclerosis Thrombosis and Vascular Biology
2001

Double-stranded RNA-dependent protein kinase, PKR, binds preferentially to Huntington's disease (HD) transcripts and is activated in HD tissue
Human Molecular Genetics
DOI: 10.1093/hmg/10.15.1531
2001

Expanded polyglutamines in Caenorhabditis elegans cause axonal abnormalities and severe dysfunction of PLM mechanosensory neurons without cell death
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.231476398
2001

Familial influence on age of onset among siblings with Huntington disease
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1400.abs
2001

High incidence rate and absent family histories in one quarter of patients newly diagnosed with Huntington disease in British Columbia
Clinical Genetics
DOI: 10.1034/j.1399-0004.2001.600305.x
2001

HIP1 and HIP12 are interacting family members that display differential binding to clathrin, AP2 and F-actin
Molecular Biology of the Cell
2001

HIP1 functions in clathrin-mediated endocytosis through binding to clathrin and adaptor protein 2
Journal of Biological Chemistry
DOI: 10.1074/jbc.C100401200
2001

HIP1(-/-) mice develop a adult onset phenotype characterized by thoracolumbar kyphosis, alterations in synaptic plasticity and a defect in reproduction
Molecular Biology of the Cell
2001

Human ABCA1 BAC transgenic mice show increased high density lipoprotein cholesterol and apoAI-dependent efflux stimulated by an internal promoter containing liver X receptor response elements in intron 1
Journal of Biological Chemistry
DOI: 10.1074/jbc.M102503200
2001

Increased HDL-C and apoA1 dependent efflux modulated by LXREs in human ABCA1 BAC transgenic mice
Circulation
2001

Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease
Science
DOI: 10.1126/science.1059581
2001

Maternal expression of functional lipoprotein lipase and effects on body fat mass and body condition scores of mature cats with lipoprotein lipase deficiency
American Journal of Veterinary Research
DOI: 10.2460/ajvr.2001.62.264
2001

Measurement of mutational flow implies both a high new-mutation rate for Huntington disease and substantial underascertainment of late-onset cases
American Journal of Human Genetics
DOI: 10.1086/318193
2001

Modulation of cellular cholesterol efflux in fibroblasts by cAMP: Evidence of post-transcriptional regulation and phosphorylation of ABCA1 protein
Circulation
2001

Mutant huntingtin enhances excitotoxic cell death
Molecular and Cellular Neuroscience
DOI: 10.1006/mcne.2000.0909
2001

NMDA receptor function in mouse models of Huntington disease
Journal of Neuroscience Research
DOI: 10.1002/jnr.1244
2001

Onset and pre-onset studies to define the Huntington's disease natural history
Brain Research Bulletin
DOI: 10.1016/S0361-9230(01)00648-7
2001

Pivotal role of ABCA1 in reverse cholesterol transport influencing HDL levels and susceptibility to atherosclerosis
Journal of Lipid Research
2001

The 'flap' endonuclease gene FEN1 is excluded as a candidate gene implicated in the CAG repeat expansion underlying Huntington disease
Clinical Genetics
DOI: 10.1034/j.1399-0004.2001.590210.x
2001

The factor structure for positive and negative symptoms in South African Xhosa patients with schizophrenia
Schizophrenia Research
DOI: 10.1016/S0920-9964(00)00010-4
2001

The Gln-Ala repeat transcriptional activator CA150 interacts with huntingtin: Neuropathologic and genetic evidence for a role in Huntington's disease pathogenesis
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.041566798
2001

The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease
Clinical Genetics
DOI: 10.1034/j.1399-0004.2001.600407.x
2001

Truncation mutations in human ABCA1 suppress normal upregulation of wild-type ABCA1 by 9-cis-retinoic acid and 22-R-hydroxycholesterol
Circulation
2001

Wild-type huntingtin reduces the cellular toxicity of mutant huntingtin in vivo
American Journal of Human Genetics
DOI: 10.1086/318207
2001

A one-hit model of cell death in inherited neuronal degenerations
Nature
DOI: 10.1038/35018098
2000

Accelerating the natural history of neurodegeneration in Huntington disease YAC transgenic mice: Facilitation of in vivo screening of potential therapeutic agents.
American Journal of Human Genetics
2000

Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes
Journal of Clinical Investigation
DOI: 10.1172/JCI10727
2000

Caspases and neurodegeneration: on the cutting edge of new therapeutic approaches
Clinical Genetics
DOI: 10.1034/j.1399-0004.2000.570101.x
2000

Cholesterol efflux regulatory protein, Tangier disease and familial high-density lipoprotein deficiency
Current Opinion in Lipidology
DOI: 10.1097/00041433-200004000-00003
2000

cSNP analysis of the ABCA1 gene: the R219K variant is associated with a blunted age-modulated increase in HDL cholesterol and decreased coronary artery disease (CAD).
American Journal of Human Genetics
2000

CSNPs within the ABC1 gene influence HDL cholesterol levels and risk of coronary artery disease (CAD)
Circulation
2000

Defects in cellular cholesterol efflux are frequent cause of HDL deficiency
Circulation
2000

Familial aggregation of psychotic symptoms in Huntington's disease
American Journal of Psychiatry
DOI: 10.1176/appi.ajp.157.12.1955
2000

From molecular accomplices to pathways in the pathogenesis of HD: The roles of novel DED containing interacting proteins, HIP1 and Hippi
American Journal of Human Genetics
2000

HDL levels in ABCA1 heterozygotes are predicted by cholesterol efflux levels and are influenced by age.
American Journal of Human Genetics
2000

HIP12 is a non-proapoptotic member of a gene family including HIP1, an interacting protein with huntingtin
Mammalian Genome
DOI: 10.1007/s003350010195
2000

Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism
Gene
DOI: 10.1016/S0378-1119(00)00269-9
2000

Huntingtin interacting protein 1 induces apoptosis via a novel caspase-dependent death effector domain
Journal of Biological Chemistry
DOI: 10.1074/jbc.M008408200
2000

Huntingtin interacting protein 1 knock-out mice are viable and provide insights into the developmental expression of HIP1.
American Journal of Human Genetics
2000

Huntingtin interacting protein 1 knockout mice are viable and provide insights into the developmental expression of HIP1
Molecular Biology of the Cell
2000

Huntingtin is required for normal hematopoiesis
Human Molecular Genetics
DOI: 10.1093/hmg/9.3.387
2000

Huntington disease: new insights on the role of huntingtin cleavage
Advances in Research on Neurodegeneration, Vol 7
2000

Identification of 20 full-length transcripts in the juvenile amyotrophic lateral sclerosis (ALS2) critical region at chromosome 2q33-q34: Candidate genes for ALS2.
American Journal of Human Genetics
2000

Inhibiting caspase cleavage of huntingtin reduces toxicity and aggregate formation in neuronal and nonneuronal cells
Journal of Biological Chemistry
DOI: 10.1074/jbc.M001475200
2000

Lipoprotein lipase activity is associated with severity of angina pectoris
Circulation
2000

Massive cholesterol ester accumulation in hepatocytes and intestinal epithelial cells caused by ABC1 mutation in WHAM chickens
Circulation
2000

Michael Smith (1932-2000) - Obituary
Nature
DOI: 10.1038/35048663
2000

Mutations in ABC1 in Tangier disease and familiar high-density lipoprotein deficiency
M S-Medecine Sciences
2000

Phenotypic correction of feline lipoprotein lipase deficiency by adenoviral gene transfer
Human Gene Therapy
2000

Plasma and vessel wall lipoprotein lipase have different roles in atherosclerosis
Journal of Lipid Research
2000

Predictive testing for Huntington's disease: the calm after the storm
Lancet
DOI: 10.1016/S0140-6736(00)03301-8
2000

Recent insights into the molecular pathogenesis of Huntington disease (vol 19, pg 385, 1999)
Seminars in Neurology
2000

The age modulated phenotype in heterozygotes for mutations in ABC1 includes significantly decreased HDL, increased triglycerides and an increased frequency of coronary artery disease (CAD).
Circulation
2000

The modulation of HIP1 function through its interaction with its family member HIP12: implications for the pathogenesis of Huntington disease
American Journal of Human Genetics
2000

Wild-type Huntingtin protects from apoptosis upstream of caspase-3
Journal of Neuroscience
2000

A common truncation variant of lipoprotein lipase (Ser447X) confers protection against coronary heart disease: the Framingham Offspring Study
Clinical Genetics
DOI: 10.1034/j.1399-0004.1999.550609.x
1999

A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia
Arteriosclerosis Thrombosis and Vascular Biology
1999

A transcript map of the ALS2 candidate locus on human chromosome 2q33-q34, and exclusion of usurpin, caspase-10, and caspase-8 as candidate genes for ALS2.ALS2.
American Journal of Human Genetics
1999

A worldwide assessment of the frequency of suicide, suicide attempts, or psychiatric hospitalization after predictive testing for Huntington disease
American Journal of Human Genetics
DOI: 10.1086/302374
1999

A YAC mouse model for Huntington's disease with full-length mutant huntingtin, cytoplasmic toxicity, and selective striatal neurodegeneration
Neuron
DOI: 10.1016/S0896-6273(00)80764-3
1999

A yeast artificial chromosome-based physical map of the juvenile amyotrophic lateral sclerosis (ALS2) critical region on human chromosome 2q33-q34
Genomics
DOI: 10.1006/geno.1998.5637
1999

Accurate determination of the number of CAG repeats in the Huntington disease gene using a sequence-specific internal DNA standard
Clinical Genetics
DOI: 10.1034/j.1399-0004.1999.550308.x
1999

Allelic but not genetic heterogeneity underlies Tangier disease
Circulation
1999

An actin-binding protein of the Sla2/Huntingtin interacting protein 1 family is a novel component of clathrin-coated pits and vesicles
Journal of Cell Biology
DOI: 10.1083/jcb.147.7.1503
1999

Chromosomal localization of the Huntingtin associated protein (HAP-1) gene in mouse and humans with radiation hybrid and interspecific backcross mapping
Mammalian Genome
DOI: 10.1007/s003359901009
1999

Cleavage of atrophin-1 at caspase site aspartic acid 109 modulates cytotoxicity
Journal of Biological Chemistry
DOI: 10.1074/jbc.274.13.8730
1999

Disturbed interaction between Huntingtin and HIP3 implicates defects in neuronal endocytosis in the pathogenesis of HD.
American Journal of Human Genetics
1999

Effect of concurrent LDL receptor gene and LPL gene mutations on LDL particles size, density and lipid composition
Atherosclerosis
DOI: 10.1016/S0021-9150(99)80666-2
1999

Effects of wild-type or mutant Huntingtin in striatal cells.
American Journal of Human Genetics
1999

Endogenous huntingtin modulates the cellular toxicity of mutant huntingtin.
American Journal of Human Genetics
1999

Evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease in cell culture and in transgenic mice expressing mutant huntingtin
Philosophical Transactions of the Royal Society of London Series B-Biological Sciences
DOI: 10.1098/rstb.1999.0457
1999

Familial aggregation of psychotic symptoms in Huntington's disease
Molecular Psychiatry
1999

Forskolin and dopamine D-1 receptor activation increase huntingtin's association with endosomes in immortalized neuronal cells of striatal origin
Neuroscience
DOI: 10.1016/S0306-4522(98)00400-X
1999

Genomic organization of the human caspase-9 gene on Chromosome 1p36.1-p36.3
Mammalian Genome
1999

Hereditary syringomyelia: A manifestation of familial vascular malformations?
Neurology
1999

Huntingtin interacting protein-1 (HIP-1) associated neuronal death is accompanied by activation of the caspase and JNK pathways.
American Journal of Human Genetics
1999

In vitro evidence for both the nucleus and cytoplasm as subcellular sites of pathogenesis in Huntington's disease
Human Molecular Genetics
DOI: 10.1093/hmg/8.1.25
1999

Influence of lamotrigine on progression of early Huntington disease - A randomized clinical trial
Neurology
1999

Inhibition of caspase cleavage of huntingtin protects neurons from toxicity and aggregate formation.
American Journal of Human Genetics
1999

Kennedy's disease: Caspase cleavage of the androgen receptor is a crucial event in cytotoxicity
Journal of Neurochemistry
DOI: 10.1046/j.1471-4159.1999.0720185.x
1999

Life without Huntington: Normal differentiation into functional neurons
Journal of Neurochemistry
DOI: 10.1046/j.1471-4159.1999.0721009.x
1999

Lipid and lipoprotein analysis of cats with lipoprotein lipase deficiency
European Journal of Clinical Investigation
1999

Lipoprotein lipase activity is decreased in a large cohort of patients with coronary artery disease and is associated with changes in lipids and lipoproteins
Journal of Lipid Research
1999

Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency
Nature Genetics
1999

Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux
Lancet
DOI: 10.1016/S0140-6736(99)07026-9
1999

Mutations in transportin (ABC1) in Tangier disease and familial HDL deficiency.
American Journal of Human Genetics
1999

Neuronal degeneration in the basal ganglia and loss of pallido-subthalamic synapses in mice with targeted disruption of the Huntington's disease gene
Brain Research
DOI: 10.1016/S0006-8993(98)01312-2
1999

Phenotypic correction of feline lipoprotein lipase (LPL) deficiency by adenoviral gene transfer.
American Journal of Human Genetics
1999

Recent insights into the molecular pathogenesis of Huntington disease
Seminars in Neurology
DOI: 10.1055/s-2008-1040853
1999

Subtype-specific enhancement of NMDA receptor currents by mutant Huntingtin
Journal of Neurochemistry
DOI: 10.1046/j.1471-4159.1999.0721890.x
1999

The actin cytoskeleton and endocytosis linked by the Huntingtin Interacting Protein 1 Related (Hip1R), a protein belonging to the Sla2/Hip1 family.
Molecular Biology of the Cell
1999

The lipoprotein lipase S447X variant is associated with decreased systolic and diastolic blood pressure
Circulation
1999

Two common mutations (D9N, N291S) in lipoprotein lipase: a cumulative analysis of their influence on plasma lipids and lipoproteins in men and women
Clinical Genetics
DOI: 10.1034/j.1399-0004.1999.560407.x
1999

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia
Circulation
1998

A Huntington disease-like neurodegenerative disorder maps to chromosome 20p
American Journal of Human Genetics
DOI: 10.1086/302093
1998

A mouse protein related to yeast Sla2/end4 and human huntingtin-interacting protein may link the actin cytoskeleton to membrane dynamics
Molecular Biology of the Cell
1998

A novel Glu421Lys substitution in the lipoprotein lipase gene in pregnancy-induced hypertriglyceridemic pancreatitis
Clinica Chimica Acta
DOI: 10.1016/s0009-8981(97)00144-7
1998

Atherogenicity of lipoprotein lipase is related to its site of expression: In vivo evidence of vessel wall versus plasma effects
Circulation
1998

Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract
Journal of Biological Chemistry
DOI: 10.1074/jbc.273.15.9158
1998

Cell death attenuation by 'Usurpin', a mammalian DED-caspase homologue that precludes caspase-8 recruitment and activation by the CD-95 (Fas, APO-1) receptor complex
Cell Death and Differentiation
DOI: 10.1038/sj.cdd.4400370
1998

Common variants of lipoprotein lipase (LPL) strongly influence levels of lipids and lipoproteins and coronary artery disease (CAD) in patients with familial hypercholesterolemia (FH)
Circulation
1998

Compound heterozygosity for frameshift mutations in the gene for lipoprotein lipase in a patient with early-onset chylomicronemia
Human Mutation
1998

Dyslipidemias associated with heterozygous lipoprotein lipase mutations in the French-Canadian population
Human Mutation
1998

Enhanced lipolysis in normal mice expressing liver-derived human lipoprotein lipase after adenoviral gene transfer
Clinical and Investigative Medicine-Medecine Clinique Et Experimentale
1998

Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1
Mammalian Genome
DOI: 10.1007/s003359900819
1998

Ile(225)Thr loop mutation in the lipoprotein lipase (LPL) gene is a de novo event
American Journal of Medical Genetics
DOI: 10.1002/(SICI)1096-8628(19980724)78:43.0.CO;2-M
1998

In vitro and in vivo models for Huntington disease: lessons for the polyglutamine expansion disorders.
Pathologie Biologie
1998

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates
Nature Genetics
DOI: 10.1038/ng0298-150
1998

Lipoprotein lipase (LPL) activity is decreased in CAD patients and inversely correlated with severity of angina pectoris and silent myocardial ischemia
Circulation
1998

Phenotypic variation in heterozygous familial hypercholesterolemia - A comparison of Chinese patients with the same or similar mutations in the LDL receptor gene in China or Canada
Arteriosclerosis Thrombosis and Vascular Biology
1998

The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease
Clinical Genetics
DOI: 10.1034/j.1399-0004.1998.531530106.x
1998

The fatal attraction of polyglutamine-containing proteins
Clinical Genetics
1998

The influence of Huntingtin protein size on nuclear localization and cellular toxicity
Journal of Cell Biology
DOI: 10.1083/jcb.141.5.1097
1998

The new Clinical Genetics: towards the millennium
Clinical Genetics
DOI: 10.1034/j.1399-0004.1998.531530101.x
1998

A single Ser259Arg mutation in the gene for lipoprotein lipase causes chylomicronemia in Moroccans of Berber ancestry
Human Mutation
DOI: 10.1002/(sici)1098-1004(1997)10:33.3.co;2-n
1997

Assessment of French patients with LPL deficiency for French Canadian mutations
Journal of Medical Genetics
DOI: 10.1136/jmg.34.8.672
1997

Caspase cleavage of huntingtin, atrophin-1 and androgen receptor
American Journal of Human Genetics
1997

Common mutations in the lipoprotein lipase gene influence plasma lipids and prevalence of coronary heart disease
Atherosclerosis
DOI: 10.1016/S0021-9150(97)88161-0
1997

Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: Evidence from single sperm analyses
Human Molecular Genetics
1997

Correction of hypertriglyceridemia and impaired fat tolerance in lipoprotein lipase-deficient mice by adenovirus-mediated expression of human lipoprotein lipase
Arteriosclerosis Thrombosis and Vascular Biology
1997

Development of an in vitro model for Huntington's disease: Evidence that the N-terminal domain of huntingtin is toxic to cells.
American Journal of Human Genetics
1997

Development of YAC transgenic mice expressing mutant human huntingtin containing different sized polyglutamine tracts.
American Journal of Human Genetics
1997

Diet-induced atherosclerosis in the domestic cat
Laboratory Investigation
1997

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia
Arteriosclerosis Thrombosis and Vascular Biology
1997

Different mechanisms underlie DNA instability in Huntington disease and colorectal cancer
American Journal of Human Genetics
1997

Different mutation rates of similar sized CAG tracts of affected Huntington disease chromosomes by single sperm analysis
American Journal of Human Genetics
1997

Dilemmas of anonymous predictive testing for huntington disease: Privacy vs. optimal care
American Journal of Medical Genetics
DOI: 10.1002/(SICI)1096-8628(19970808)71:23.3.CO;2-Y
1997

Effects of the Ser447Stop mutation in the lipoprotein lipase gene locus on plasma triglyceride rich lipoprotein remnants
Circulation
1997

Efficient adenovirus-mediated ectopic gene expression of human lipoprotein lipase in human hepatic (HepG2) cells
Human Gene Therapy
DOI: 10.1089/hum.1997.8.2-205
1997

Ethnic variation and in vivo effects of the -93t->g promoter variant in the lipoprotein lipase gene
Arteriosclerosis Thrombosis and Vascular Biology
1997

Familial defective apolipoprotein B-100 in hypercholesterolemic Chinese Canadians: identification of a unique haplotype of the apolipoprotein B-100 allele
Atherosclerosis
DOI: 10.1016/S0021-9150(97)00159-7
1997

Genetic variant showing a positive interaction with beta-blocking agents with a beneficial influence on lipoprotein lipase activity, HDL cholesterol, and triglyceride levels in coronary artery disease patients - The Ser(447)-Stop substitution in the lipoprotein lipase gene
Circulation
1997

HIP1, a human homologue of S-cerevisiae Sla2p, interacts with membrane-associated huntingtin in the brain
Nature Genetics
DOI: 10.1038/ng0597-44
1997

Interleukin-1 beta-converting enzyme (ICE) and related cell death genes ICErel-II and ICErel-III map to the same PAC clone at band 11q22.2-22.3
Mammalian Genome
DOI: 10.1007/s003359900514
1997

Localization of the cell death genes CPP32 and Mch-2 to human Chromosome 4q
Mammalian Genome
DOI: 10.1007/s003359900349
1997

Molecular genetics as tools to redefine the clinics of lipoprotein disorders: The examples of lipoprotein lipase deficiency
Atherosclerosis
DOI: 10.1016/s0021-9150(97)88611-x
1997

Of molecular interactions, mice and mechanisms: new insights into Huntington's disease
Current Opinion in Neurology
DOI: 10.1097/00019052-199708000-00003
1997

Pathological association and dissociation of functional systems in multiple sclerosis and Huntington's disease
Journal of Clinical and Experimental Neuropsychology
DOI: 10.1080/01688639708403837
1997

Phenotypic variation in familial hypercholesterolemia: A comparison of Chinese patients heterozygous for the same or similar mutations in the low density lipoprotein-receptor gene living in China or Canada
Atherosclerosis
DOI: 10.1016/S0021-9150(97)88444-4
1997

Premature atherosclerosis in familial chylomicronemia - Reply
New England Journal of Medicine
1997

Relationship between lipoprotein lipase and high density lipoprotein cholesterol in mice: modulation by cholesteryl ester transfer protein and dietary status
Journal of Lipid Research
1997

Rethinking genotype and phenotype correlations in polyglutamine expansion disorders
Human Molecular Genetics
DOI: 10.1093/hmg/6.12.2005
1997

Risk reversals in predictive testing for Huntington disease
American Journal of Human Genetics
DOI: 10.1086/514873
1997

Segments in the C-terminal folding domain of lipoprotein lipase important for binding to the low density lipoprotein receptor-related protein and to heparan sulfate proteoglycans
Journal of Biological Chemistry
1997

The likelihood of being affected with Huntington disease by a particular age, for a specific CAG size
American Journal of Human Genetics
1997

Toward understanding the molecular pathology of Huntington's Disease
Brain Pathology
DOI: 10.1111/j.1750-3639.1997.tb00897.x
1997

A common alteration in the LPL gene resulting in altered lipoprotein levels
Nutrition, Genetics, and Heart Disease
1996

A frequently occurring mutation in the lipoprotein lipase gene (Asn291Ser) results in altered postprandial chylomicron triglyceride and retinyl palmitate response in normolipidemic carriers
Journal of Lipid Research
1996

A mutation in the lipoprotein lipase gene is the molecular basis of chylomicronemia in a colony of domestic cats
Journal of Clinical Investigation
DOI: 10.1172/JCI118541
1996

A new mutation destroying disulphide bridging in the C-terminal domain of lipoprotein lipase
Biochemical and Biophysical Research Communications
DOI: 10.1006/bbrc.1996.1487
1996

Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript
Human Molecular Genetics
DOI: 10.1093/hmg/5.2.177
1996

Adverse psychological events occurring in the first year after predictive testing for Huntington's disease
Journal of Medical Genetics
DOI: 10.1136/jmg.33.10.856
1996

Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency
Journal of Lipid Research
1996

Analysis of cholesteryl ester transfer activity in adipose tissue
International Journal of Obesity
1996

Cleavage of huntingtin by apopain, a proapoptotic cysteine protease, is modulated by the polyglutamine tract
Nature Genetics
DOI: 10.1038/ng0896-442
1996

Combined effect of familial hypercholesterolemia and lipoprotein lipase deficiency in determining low density lipoprotein size, buoyancy and lipid composition
Journal of Investigative Medicine
1996

Common sequence variants of lipoprotein lipase: Standardized studies of in vitro expression and catalytic function
Biochimica Et Biophysica Acta-Lipids and Lipid Metabolism
DOI: 10.1016/0005-2760(96)00059-8
1996

Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency
American Journal of Human Genetics
1996

Compound heterozygosity for a known and a novel defect in the lipoprotein lipase gene (Asp250->Asn; Ser251->Cys) resulting in lipoprotein lipase (LPL) deficiency
Netherlands Journal of Medicine
DOI: 10.1016/0300-2977(96)00043-5
1996

Diet-induced atherosclerosis in normal and LPL deficient heterozygote cats
Laboratory Investigation
1996

Effects of lipoprotein lipase gene mutations on plasma lipids: The Framingham Offspring Study.
Circulation
1996

Gene-based therapeutic strategies for human lipoprotein lipase (LPL) deficiency: Rationale and prospects for alteration of atherogenic risk
Transfusion Science
1996

Heterozygous mutations in the lipoprotein lipase gene contribute to chylomicronemia in the adult
Journal of Investigative Medicine
1996

Human huntingtin derived from YAC transgenes compensates for loss of murine huntingtin by rescue of the embryonic lethal phenotype
Human Molecular Genetics
DOI: 10.1093/hmg/5.12.1875
1996

Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme
Journal of Biological Chemistry
1996

Huntington disease: New insights into the relationship between CAG expansion and disease
Human Molecular Genetics
1996

Lack of association of the apolipoprotein A-I-C-III-A-IV gene XmnI and SstI polymorphisms and of the lipoprotein lipase gene mutations in familiar combined hyperlipoproteinemia in French Canadian subjects
Journal of Lipid Research
1996

Lipoprotein lipase increases HDL levels in mice expressing cholesterol ester transfer protein
Circulation
1996

LPL gene mutation, causing only subtle changes in plasma lipids, promotes progression of coronary atherosclerosis which can be reversed by pravastatin
Circulation
1996

MED-PED: An integrated genetic strategy for preventing early deaths
Genetic Approaches To Noncommunicable Diseases
1996

Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia
Gene Geography
1996

Patients' rights to laboratory data: Trinucleotide repeat length in huntington disease
American Journal of Medical Genetics
DOI: 10.1002/(SICI)1096-8628(19960301)62:13.0.CO;2-X
1996

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
American Journal of Human Genetics
1996

Predictive testing for Huntington disease: Lessons for other adult onset disorders
Genetic Approaches To Noncommunicable Diseases
1996

Premature atherosclerosis in patients with familial chylomicronemia caused by mutations in the lipoprotein lipase gene
New England Journal of Medicine
DOI: 10.1056/nejm199609193351203
1996

The Asp(9) Asn mutation in the lipoprotein lipase gene is associated with increased progression of coronary atherosclerosis
Circulation
1996

Treatment of familial hypercholesterolemia in children and adolescents: Effect of lovastatin
Pediatrics
1996

Unified Huntington's disease rating scale: Reliability and consistency
Movement Disorders
1996

Update on genetics of Huntington's disease: Availability of direct and accurate predictive test
Italian Journal of Neurological Sciences
DOI: 10.1007/BF01995681
1996

A 2-YEAR PROSPECTIVE ASSESSMENT OF SOCIAL AND PSYCHOLOGICAL CONSEQUENCES OF PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE (HD)
American Journal of Human Genetics
1995

A FREQUENTLY OCCURRING MUTATION IN THE LIPOPROTEIN-LIPASE GENE (ASN291SER) CONTRIBUTES TO THE EXPRESSION OF FAMILIAL COMBINED HYPERLIPIDEMIA
Human Molecular Genetics
DOI: 10.1093/hmg/4.9.1543
1995

A LIPOPROTEIN-LIPASE MUTATION (ASN291SER) IS ASSOCIATED WITH REDUCED HDL CHOLESTEROL LEVELS IN PREMATURE ATHEROSCLEROSIS
Nature Genetics
DOI: 10.1038/ng0595-28
1995

ANCESTRAL DIFFERENCES IN THE DISTRIBUTION OF THE DELTA-2642 GLUTAMIC-ACID POLYMORPHISM IS ASSOCIATED WITH VARYING CAG REPEAT LENGTHS ON NORMAL CHROMOSOMES - INSIGHTS INTO THE GENETIC EVOLUTION OF HUNTINGTON DISEASE
Human Molecular Genetics
DOI: 10.1093/hmg/4.2.207
1995

ARE WE ALL OF ONE MIND - CLINICIAN AND PATIENTS OPINIONS REGARDING THE DEVELOPMENT OF A SERVICE PROTOCOL FOR PREDICTIVE TESTING FOR HUNTINGTON-DISEASE
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320580113
1995

COMPLETE PATERNAL ISODISOMY OF CHROMOSOME-8 UNMASKED BY THE MOLECULAR CHARACTERIZATION OF LIPOPROTEIN-LIPASE DEFICIENCY
American Journal of Human Genetics
1995

FALSE NEGATIVES AND POSITIVES IN PREDICTIVE TESTING FOR HUNTINGTON DISEASE THE IMPORTANCE OF ACCURATE ASSESSMENT OF THE ADJACENT CCG REPEAT
American Journal of Human Genetics
1995

GENOMIC ORGANIZATION OF THE HUMAN ALPHA-ADDUCIN GENE AND ITS ALTERNATELY SPLICED ISOFORMS
Genomics
DOI: 10.1016/0888-7543(95)80113-Z
1995

HEREDITARY LATE-ONSET CHOREA WITHOUT SIGNIFICANT DEMENTIA - GENETIC-EVIDENCE FOR SUBSTANTIAL PHENOTYPIC VARIATION IN HUNTINGTONS-DISEASE
Neurology
1995

INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO INTERMEDIATE ALLELES IN THE GENERAL-POPULATION - IMPLICATIONS FOR GENETIC-COUNSELING
American Journal of Human Genetics
1995

INCREASED INSTABILITY OF INTERMEDIATE ALLELES IN FAMILIES WITH SPORADIC HUNTINGTON DISEASE COMPARED TO SIMILAR SIZED INTERMEDIATE ALLELES IN THE GENERAL-POPULATION
Human Molecular Genetics
DOI: 10.1093/hmg/4.10.1911
1995

LACK OF ASSOCIATION OF THE APO AI-CIII-AIV GENE XMNL AND SSTL POLYMORPHISMS AND OF LPL GENE-MUTATIONS IN FAMILIAL COMBINED HYPERLIPOPROTEINEMIA IN FRENCH-CANADIAN SUBJECTS
Circulation
1995

LIPOPROTEIN ANALYSIS IN A COLONY OF LIPOPROTEIN-LIPASE DEFICIENT CATS
Circulation
1995

LONG-TERM EFFICACY AND TOLERABILITY OF SIMVASTATIN IN A LARGE COHORT OF ELDERLY HYPERCHOLESTEROLEMIC PATIENTS
Atherosclerosis
DOI: 10.1016/0021-9150(95)05523-Y
1995

MANY ROADS LEAD TO ATHEROMA
Nature Medicine
DOI: 10.1038/nm0195-22
1995

MAPPING OF THE GONADOTROPIN-RELEASING-HORMONE (GNRH) RECEPTOR GENE TO HUMAN-CHROMOSOME 4Q21.2 BY FLUORESCENCE IN-SITU HYBRIDIZATION
Mammalian Genome
DOI: 10.1007/BF00352431
1995

MECHANISMS UNDERLYING (CAG) EXPANDION IN HUNTINGTON DISEASE INCLUDE TISSUE-SPECIFIC AND CIS-ACTING FACTORS
Journal of Cellular Biochemistry
1995

MUTATIONS IN THE GENE FOR LIPOPROTEIN-LIPASE - A CAUSE FOR LOW HDL CHOLESTEROL LEVELS IN INDIVIDUALS HETEROZYGOUS FOR FAMILIAL HYPERCHOLESTEROLEMIA
Arteriosclerosis Thrombosis and Vascular Biology
1995

ORIGINS AND EVOLUTION OF HUNTINGTON DISEASE CHROMOSOMES
Neurodegeneration
DOI: 10.1016/1055-8330(95)90013-6
1995

PATIENT RIGHTS TO LABORATORY DATA - TRINEUCLEOTIDE REPEAT LENGTH IN HUNTINGTON DISEASE
American Journal of Human Genetics
1995

PATIENTS WITH APOE3 DEFICIENCY (E2/2, E3/2, AND E4/2) WHO MANIFEST WITH HYPERLIPIDEMIA HAVE INCREASED FREQUENCY OF AN ASN 291-]SER MUTATION IN THE HUMAN LPL GENE
Arteriosclerosis Thrombosis and Vascular Biology
1995

POSTPRANDIAL RETINYL PALMITATE RESPONSE SUPPORTS EVIDENCE FOR A FUNCTIONAL EFFECT OF THE ASN291SER MUTATION IN THE LIPOPROTEIN-LIPASE GENE
Circulation
1995

PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE (HD) - DIFFERENCES IN UPTAKE AND CHARACTERISTICS OF LINKED MARKER AND DIRECT TEST COHORTS
American Journal of Human Genetics
1995

RETROVIRAL-MEDIATED GENE-TRANSFER AND EXPRESSION OF HUMAN LIPOPROTEIN-LIPASE IN SOMATIC-CELLS
Human Gene Therapy
DOI: 10.1089/hum.1995.6.7-853
1995

SEX-DEPENDENT MECHANISMS FOR EXPANSIONS AND CONTRACTIONS OF THE CAG REPEAT ON AFFECTED HUNTINGTON DISEASE CHROMOSOMES
American Journal of Human Genetics
1995

SOMATIC MOSAICISM IN SPERM IS ASSOCIATED WITH INTERGENERATIONAL (CAG)(N) CHANGES IN HUNTINGTON DISEASE
Human Molecular Genetics
DOI: 10.1093/hmg/4.2.189
1995

SOMATIC MOSAICISM IN SPERM IS ASSOCIATED WITH INTERGENERATIONAL (CAG)N CHANGES IN HUNTINGTON DISEASE (VOL 4, PG 189, 1995)
Human Molecular Genetics
DOI: 10.1093/hmg/4.5.974-b
1995

STRUCTURAL FEATURES IN LIPOPROTEIN-LIPASE NECESSARY FOR THE MEDIATION OF LIPOPROTEIN UPTAKE INTO CELLS
Journal of Lipid Research
1995

STRUCTURAL-ANALYSIS OF THE 5'-REGION OF MOUSE AND HUMAN HUNTINGTON DISEASE GENES REVEALS CONSERVATION OF PUTATIVE PROMOTER REGION AND DINUCLEOTIDE AND TRINUCLEOTIDE POLYMORPHISMS
Genomics
DOI: 10.1016/0888-7543(95)80014-D
1995

SUMMARY OF THE 1993 ASHG ANCILLARY MEETING - RECENT RESEARCH ON CHROMOSOME-4P SYNDROMES AND GENES
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320550412
1995

TARGETED DISRUPTION OF THE HUNTINGTONS-DISEASE GENE RESULTS IN EMBRYONIC LETHALITY AND BEHAVIORAL AND MORPHOLOGICAL-CHANGES IN HETEROZYGOTES
Cell
DOI: 10.1016/0092-8674(95)90542-1
1995

TARGETED DISRUPTION OF THE HUNTINGTONS-DISEASE GENE RESULTS IN EMBRYONIC LETHALITY IN HOMOZYGOTES AND BEHAVIORAL AND NEUROPATHOLOGICAL DEFECTS IN HETEROZYGOTES
American Journal of Human Genetics
1995

TRANSACTIVATIONAL ANALYSIS OF THE GLUTAMINE-RICH REGIONS OF THE HUMAN ANDROGEN RECEPTOR AND THE HUNTINGTON DISEASE GENE
American Journal of Human Genetics
1995

YAC TRANSGENIC MICE CONTAINING THE HUNTINGTON DISEASE GENE
American Journal of Human Genetics
1995

A CCG REPEAT POLYMORPHISM ADJACENT TO THE CAG REPEAT IN THE HUNTINGTON DISEASE GENE - IMPLICATIONS FOR DIAGNOSTIC-ACCURACY AND PREDICTIVE TESTING
Human Molecular Genetics
DOI: 10.1093/hmg/3.1.65
1994

A COMPOUND HETEROZYGOTE FOR LIPOPROTEIN-LIPASE DEFICIENCY, VAL(69)- LEU AND GLY(188)- GLU - CORRELATION BETWEEN IN-VITRO LPL ACTIVITY AND CLINICAL EXPRESSION
Journal of Lipid Research
1994

A MUTATION (N291S) IN THE LPL GENE OCCURS WITH INCREASED FREQUENCY IN PATIENTS WITH PREMATURE ATHEROSCLEROSIS AND HYPERLIPIDEMIA
Circulation
1994

A TRANSCRIPTION MAP OF THE HUNTINGTON DISEASE LOCUS
Cytogenetics and Cell Genetics
1994

A WORLDWIDE STUDY OF THE HUNTINGTONS-DISEASE MUTATION - THE SENSITIVITY AND SPECIFICITY OF MEASURING CAG REPEATS
New England Journal of Medicine
DOI: 10.1056/NEJM199405193302001
1994

ALTERATION OF LIPID PROFILES IN PLASMA OF TRANSGENIC MICE EXPRESSING HUMAN LIPOPROTEIN-LIPASE
Journal of Biological Chemistry
1994

ANALYSIS OF DNA CHANGES IN THE LPL GENE IN PATIENTS WITH FAMILIAL COMBINED HYPERLIPIDEMIA
Arteriosclerosis and Thrombosis
1994

APOLIPOPROTEIN CII-PADOVA (TYR(37)-]STOP) AS A CAUSE OF CHYLOMICRONEMIA IN AN ITALIAN KINDRED FROM SICULIANA
Journal of Medical Genetics
DOI: 10.1136/jmg.31.8.622
1994

COMPARATIVE EFFICACY AND SAFETY OF PRAVASTATIN, NICOTINIC-ACID AND THE 2 COMBINED IN PATIENTS WITH HYPERCHOLESTEROLEMIA
American Journal of Cardiology
DOI: 10.1016/0002-9149(94)90005-1
1994

DNA HAPLOTYPE ANALYSIS OF HUNTINGTON DISEASE REVEALS CLUES TO THE ORIGINS AND MECHANISMS OF CAG EXPANSION AND REASONS FOR GEOGRAPHIC VARIATIONS OF PREVALENCE
Human Molecular Genetics
DOI: 10.1093/hmg/3.12.2103
1994

FAMILIAL LATE-ONSET CHOREA (WITHOUT OTHER FEATURES) MAY BE HUNTINGTONS-DISEASE
Neurology
1994

GENE ENVIRONMENT INTERACTION AND PLASMA TRIGLYCERIDE LEVELS - THE CRUCIAL ROLE OF LIPOPROTEIN-LIPASE
Clinical Genetics
1994

GEOGRAPHICAL-DISTRIBUTION OF HAPLOTYPES IN SWEDISH FAMILIES WITH HUNTINGTONS-DISEASE
Human Genetics
1994

GUIDELINES FOR THE MOLECULAR-GENETICS PREDICTIVE TEST IN HUNTINGTONS-DISEASE
Neurology
1994

HIGH-FREQUENCY OF MUTATIONS IN THE HUMAN LIPOPROTEIN-LIPASE GENE IN PREGNANCY-INDUCED CHYLOMICRONEMIA - POSSIBLE ASSOCIATION WITH APOLIPOPROTEIN E2 ISOFORM
Journal of Lipid Research
1994

HOMOZYGOSITY FOR A MUTATION IN THE LIPOPROTEIN-LIPASE GENE (GLY(139)-]SER) CAUSES CHYLOMICRONEMIA IN A BOY OF SPANISH DESCENT
Human Genetics
DOI: 10.1007/BF00212035
1994

HUNTINGTON DISEASE WITHOUT CAG EXPANSION - PHENOCOPIES OR ERRORS IN ASSIGNMENT
American Journal of Human Genetics
1994

IN-VITRO MUTAGENESIS STUDIES DEFINES THOSE RESIDUES OF LIPOPROTEIN-LIPASE CRITICAL FOR MEDIATION OF THE BINDING OF LIPOPROTEINS TO THE LOW-DENSITY-LIPOPROTEIN RECEPTOR-RELATED PROTEIN (LRP)
Circulation
1994

ISSUES IN MOLECULAR-GENETIC TESTING OF INDIVIDUALS WITH SUSPECTED EARLY-ONSET FAMILIAL ALZHEIMERS-DISEASE
Alzheimer Disease & Associated Disorders
DOI: 10.1097/00002093-199408020-00008
1994

MURINE ALPHA-L-IDURONIDASE - CDNA ISOLATION AND EXPRESSION
Genomics
DOI: 10.1006/geno.1994.1621
1994

MUTAGENESIS IN 4 CANDIDATE HEPARIN-BINDING REGIONS (RESIDUE-279-282, RESIDUE-291-304, RESIDUE-390-393, AND RESIDUE-439-448) AND IDENTIFICATION OF RESIDUES AFFECTING HEPARIN-BINDING OF HUMAN LIPOPROTEIN-LIPASE
Journal of Lipid Research
1994

NORMAL CAG REPEAT LENGTH IN THE HUNTINGTONS-DISEASE GENE IN SENILE CHOREA
Neurology
1994

PRECISE MAPPING OF THE BRAIN ALPHA(2)-ADRENERGIC RECEPTOR GENE WITHIN CHROMOSOME 4P16
Genomics
DOI: 10.1006/geno.1994.1061
1994

PROCEED WITH CARE - DIRECT PREDICTIVE TESTING FOR HUNTINGTON DISEASE
American Journal of Human Genetics
1994

RECURRENT MISSENSE MUTATIONS AT THE FIRST AND 2ND BASE OF CODON ARG(243) IN HUMAN LIPOPROTEIN-LIPASE IN PATIENTS OF DIFFERENT ANCESTRIES
Human Mutation
DOI: 10.1002/humu.1380030109
1994

SEQUENCE OF THE MURINE HUNTINGTON DISEASE GENE - EVIDENCE FOR CONSERVATION, ALTERNATE SPLICING AND POLYMORPHISM IN A TRIPLET (CCG) REPEAT (VOL 3, PG 85, 1994)
Human Molecular Genetics
DOI: 10.1093/hmg/3.3.530-a
1994

SEQUENCE OF THE MURINE HUNTINGTON DISEASE GENE - EVIDENCE FOR CONSERVATION, AND POLYMORPHISM IN A TRIPLET (CCG) REPEAT ALTERNATE SPLICING
Human Molecular Genetics
DOI: 10.1093/hmg/3.1.85
1994

SOMATIC AND GONADAL MOSAICISM OF THE HUNTINGTON DISEASE GENE CAG REPEAT IN BRAIN AND SPERM
Nature Genetics
DOI: 10.1038/ng0494-409
1994

SOMATIC AND GONADAL MOSAICISM OF THE HUNTINGTON DISEASE GENE CAG REPEAT IN BRAIN AND SPERM (VOL 6, PG 409, 1994)
Nature Genetics
1994

THE MOLECULAR-GENETICS OF HUNTINGTONS-DISEASE
Current Opinion in Neurology
1994

THE MURINE HOMOLOGS OF THE HUNTINGTON DISEASE GENE (HDH) AND THE ALPHA-ADDUCIN GENE (ADD1) MAP TO MOUSE CHROMOSOME-5 WITHIN A REGION OF CONSERVED SYNTENY WITH HUMAN-CHROMOSOME 4P16.3
Genomics
DOI: 10.1006/geno.1994.1361
1994

U-TYPE EXCHANGE IN A PARACENTRIC INVERSION AS A POSSIBLE MECHANISM OF ORIGIN OF AN INVERTED TANDEM DUPLICATION OF CHROMOSOME-8
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320490406
1994

(CA)(N)-DINUCLEOTIDE REPEAT AT THE PDEB LOCUS IN 4P16.3
Human Molecular Genetics
DOI: 10.1093/hmg/2.6.827
1993

5-YEAR STUDY OF PRENATAL TESTING FOR HUNTINGTONS-DISEASE - DEMAND, ATTITUDES, AND PSYCHOLOGICAL-ASSESSMENT
Journal of Medical Genetics
DOI: 10.1136/jmg.30.7.549
1993

A 4-BASEPAIR DELETION IN EXON-4 OF THE HUMAN LIPOPROTEIN-LIPASE GENE RESULTS IN TYPE-I HYPERLIPOPROTEINEMIA
Human Molecular Genetics
DOI: 10.1093/hmg/2.7.1049
1993

A PCR METHOD FOR ACCURATE ASSESSMENT OF TRINUCLEOTIDE REPEAT EXPANSION IN HUNTINGTON DISEASE
Human Molecular Genetics
DOI: 10.1093/hmg/2.6.635
1993

A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE
Human Molecular Genetics
DOI: 10.1093/hmg/2.7.901
1993

A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE (VOL 2, PG 901, 1993)
Human Molecular Genetics
1993

ACIDIC AND BASIC FIBROBLAST GROWTH FACTOR-LIKE IMMUNOREACTIVITY IN THE STRIATUM AND MIDBRAIN IN HUNTINGDONS DISEASE (VOL 608, PG 78, 1993)
Brain Research
1993

ACIDIC AND BASIC FIBROBLAST GROWTH FACTOR-LIKE IMMUNOREACTIVITY IN THE STRIATUM AND MIDBRAIN IN HUNTINGTONS-DISEASE
Brain Research
DOI: 10.1016/0006-8993(93)91209-B
1993

ALU ELEMENT RETROPOSITION EVENTS IN THE HUNTINGTON DISEASE REGION AND IN THE CHOLINESTERASE GENE DEFINE A NEW ACTIVE ALU SUBFAMILY
American Journal of Human Genetics
1993

AN ALU ELEMENT RETROPOSITION IN 2 FAMILIES WITH HUNTINGTON DISEASE DEFINES A NEW ACTIVE ALU SUBFAMILY
Nucleic Acids Research
DOI: 10.1093/nar/21.15.3379
1993

ARE WE ALL OF ONE MIND - SIGNIFICANT DIFFERENCES IN OPINION BETWEEN CLINICIAN AND PARTICIPANTS REGARDING THE DEVELOPMENT OF A SERVICE PROTOCOL FOR PREDICTIVE TESTING FOR HUNTINGTON DISEASE (HD)
American Journal of Human Genetics
1993

ATTITUDES AND EXPECTED DEMAND FROM PERSONS AT RISK FOR HUNTINGTON DISEASE (HD) TOWARDS A NEW DIRECT MUTATION PREDICTIVE TEST
American Journal of Human Genetics
1993

ATTITUDES TOWARD DIRECT PREDICTIVE TESTING FOR THE HUNTINGTON DISEASE GENE - RELEVANCE FOR OTHER ADULT-ONSET DISORDERS
Jama-Journal of the American Medical Association
DOI: 10.1001/jama.270.19.2321
1993

COMPARISON OF THE SHORT-TERM EFFICACY AND TOLERABILITY OF LOVASTATIN AND SIMVASTATIN IN THE MANAGEMENT OF PRIMARY HYPERCHOLESTEROLEMIA
Canadian Journal of Cardiology
1993

CONCORDANCE BETWEEN QUANTIFIED NEUROLOGICAL EXAMINATION AND POSITRON EMISSION TOMOGRAPHY IN THE EARLIEST STAGES OF HUNTINGTONS-DISEASE
Neurology
1993

CONSEQUENCES OF TESTING FOR HUNTINGTONS-DISEASE - REPLY
New England Journal of Medicine
1993

DEVELOPMENT OF A PROGRAM FOR IDENTIFICATION OF PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA IN BRITISH-COLUMBIA - A MODEL FOR PREVENTION OF CORONARY-DISEASE
American Journal of Cardiology
DOI: 10.1016/0002-9149(93)90007-Y
1993

DIAGNOSIS OF HUNTINGTON DISEASE - A MODEL FOR THE STAGES OF PSYCHOLOGICAL RESPONSE BASED ON EXPERIENCE OF A PREDICTIVE TESTING PROGRAM
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320470314
1993

DIFFERENTIAL 3' POLYADENYLATION OF THE HUNTINGTON DISEASE GENE RESULTS IN 2 MESSENGER-RNA SPECIES WITH VARIABLE TISSUE EXPRESSION
Human Molecular Genetics
DOI: 10.1093/hmg/2.10.1541
1993

DNA ANALYSIS OF DISTINCT POPULATIONS SUGGESTS MULTIPLE ORIGINS FOR THE MUTATION CAUSING HUNTINGTON DISEASE
Clinical Genetics
1993

EFFECT OF PARENTAL TRANSMISSION ON TRINUCLEOTIDE EXPANSION AND AGE AT ONSET OF SYMPTOMS IN JUVENILE HUNTINGTON DISEASE
American Journal of Human Genetics
1993

EXPRESSION OF HUMAN LIPOPROTEIN-LIPASE IN TRANSGENIC MICE
Journal of Cellular Biochemistry
1993

EXPRESSION OF HUMAN LIPOPROTEIN-LIPASE IN TRANSGENIC MICE RESULTS IN REDUCED LEVELS OF PLASMA TRIGLYCERIDE AND SIGNIFICANT ALTERATIONS IN LIPID PROFILES
American Journal of Human Genetics
1993

FAMILIAL DEFECTIVE APOLIPOPROTEIN B-100 IS CLINICALLY INDISTINGUISHABLE FROM FAMILIAL HYPERCHOLESTEROLEMIA
Archives of Internal Medicine
DOI: 10.1001/archinte.153.20.2349
1993

FAMILIAL PREDISPOSITION TO RECURRENT MUTATIONS CAUSING HUNTINGTONS-DISEASE - GENETIC RISK TO SIBS OF SPORADIC CASES
Journal of Medical Genetics
DOI: 10.1136/jmg.30.12.987
1993

GENE-ENVIRONMENT INTERACTION IN THE CONVERSION OF A MILD-TO-SEVERE PHENOTYPE IN A PATIENT HOMOZYGOUS FOR A SER(172) -] CYS MUTATION IN THE LIPOPROTEIN-LIPASE GENE
Journal of Clinical Investigation
DOI: 10.1172/JCI116414
1993

GENEALOGY AND REGIONAL DISTRIBUTION OF LIPOPROTEIN-LIPASE DEFICIENCY IN FRENCH-CANADIANS OF QUEBEC
Human Biology
1993

GENETIC AND PHENOTYPIC HETEROGENEITY IN FAMILIAL LECITHIN - CHOLESTEROL ACYLTRANSFERASE (LCAT) DEFICIENCY - 6 NEWLY IDENTIFIED DEFECTIVE ALLELES FURTHER CONTRIBUTE TO THE STRUCTURAL HETEROGENEITY IN THIS DISEASE
Journal of Clinical Investigation
DOI: 10.1172/JCI116248
1993

HUNTINGTON DISEASE - IDENTIFICATION OF A PREMUTATION
American Journal of Human Genetics
1993

HUNTINGTON,GEORGE - THE MAN BEHIND THE EPONYM
Journal of Medical Genetics
DOI: 10.1136/jmg.30.5.406
1993

IDENTIFICATION OF AN ALU RETROTRANSPOSITION EVENT IN CLOSE PROXIMITY TO A STRONG CANDIDATE GENE FOR HUNTINGTONS-DISEASE
Nature
DOI: 10.1038/362370a0
1993

LINKAGE AND MUTATIONAL ANALYSES OF 30 FAMILIES AFFECTED WITH LEBER CONGENITAL AMAUROSIS
Investigative Ophthalmology & Visual Science
1993

MAPPING OF THE HUMAN NMDA RECEPTOR SUBUNIT (NMDAR1) AND THE PROPOSED NMDA RECEPTOR GLUTAMATE-BINDING SUBUNIT (NMDARA1) TO CHROMOSOME-9Q34.3 AND CHROMOSOME-8, RESPECTIVELY
Genomics
1993

MOLECULAR ANALYSIS OF JUVENILE HUNTINGTON DISEASE - THE MAJOR INFLUENCE ON (CAG)(N) REPEAT LENGTH IS THE SEX OF THE AFFECTED PARENT
Human Molecular Genetics
DOI: 10.1093/hmg/2.10.1535
1993

MOLECULAR ANALYSIS OF LATE-ONSET HUNTINGTONS-DISEASE
Journal of Medical Genetics
DOI: 10.1136/jmg.30.12.991
1993

MOLECULAR ANALYSIS OF NEW MUTATIONS FOR HUNTINGTONS-DISEASE - INTERMEDIATE ALLELES AND SEX OF ORIGIN EFFECTS
Nature Genetics
DOI: 10.1038/ng1093-174
1993

MOLECULAR CHARACTERIZATION OF LIPOPROTEIN-LIPASE DEFICIENCY IN THE CAT - AN ANIMAL-MODEL FOR HUMAN LIPOPROTEIN-LIPASE DEFICIENCY
Circulation
1993

MOLECULAR-GENETICS OF LIPOPROTEIN-LIPASE DEFICIENCY
Drugs Affecting Lipid Metabolism
1993

MONOAMINES AND THEIR METABOLITES IN HUNTINGTONS-DISEASE BRAIN - EVIDENCE FOR DECREASED CATECHOL-O-METHYLTRANSFERASE ACTIVITY
Biological Psychiatry
DOI: 10.1016/0006-3223(93)90012-3
1993

ON PLANTING ALFALFA AND GROWING ORCHIDS - THE CLONING OF THE GENE CAUSING HUNTINGTON DISEASE
Clinical Genetics
1993

PHENOTYPIC VARIATION OF MUTATIONS IN THE HUMAN LIPOPROTEIN-LIPASE GENE
Biochemical Society Transactions
1993

PRESYMPTOMATIC TESTING FOR HUNTINGTONS-DISEASE - A WORLD WIDE SURVEY
Journal of Medical Genetics
1993

PREVENTION OF RAISED LOW-DENSITY-LIPOPROTEIN CHOLESTEROL IN A PATIENT WITH FAMILIAL HYPERCHOLESTEROLEMIA AND LIPOPROTEIN-LIPASE DEFICIENCY
Lancet
DOI: 10.1016/0140-6736(93)93129-O
1993

RECURRENT PANCREATITIS AND CHYLOMICRONEMIA IN AN EXTENDED DUTCH KINDRED IS CAUSED BY A GLY154-] SER SUBSTITUTION IN LIPOPROTEIN-LIPASE
Journal of Lipid Research
1993

REINVENTING THE WHEEL - REPLY
American Journal of Medical Genetics
1993

SOUTH-AFRICAN FOUNDER MUTATIONS IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA IN THE DUTCH POPULATION
Human Genetics
DOI: 10.1007/BF00420940
1993

STRUCTURE-FUNCTION-RELATIONSHIPS OF LIPOPROTEIN-LIPASE - MUTATION ANALYSIS AND MUTAGENESIS OF THE LOOP REGION
Journal of Lipid Research
1993

SUPPORT FOR FOUNDER EFFECT FOR 2 LIPOPROTEIN-LIPASE (LPL) GENE-MUTATIONS IN FRENCH-CANADIANS BY ANALYSIS OF GT MICROSATELLITES FLANKING THE LPL GENE
Human Genetics
1993

THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTON DISEASE
American Journal of Human Genetics
1993

THE RELATIONSHIP BETWEEN TRINUCLEOTIDE (CAG) REPEAT LENGTH AND CLINICAL-FEATURES OF HUNTINGTONS-DISEASE
Nature Genetics
DOI: 10.1038/ng0893-398
1993

TYPE-III HYPERLIPOPROTEINEMIA IN APOE2/2 HOMOZYGOTES - POSSIBLE ROLE OF MUTATIONS IN THE LIPOPROTEIN-LIPASE GENE
Circulation
1993

2 NATURALLY-OCCURRING MUTATIONS AT THE 1ST AND 2ND BASES OF CODON ASPARTIC ACID-156 IN THE PROPOSED CATALYTIC TRIAD OF HUMAN LIPOPROTEIN-LIPASE - INVIVO EVIDENCE THAT ASPARTIC ACID-156 IS ESSENTIAL FOR CATALYSIS
Journal of Biological Chemistry
1992

A MISSENSE MUTATION (ASP(250)-]ASN) IN EXON-6 OF THE HUMAN LIPOPROTEIN-LIPASE GENE CAUSES CHYLOMICRONEMIA IN PATIENTS OF DIFFERENT ANCESTRIES
Genomics
DOI: 10.1016/0888-7543(92)90136-G
1992

A MISSENSE MUTATION PRO157ARG IN LIPOPROTEIN-LIPASE (LPLNIJMEGEN) RESULTING IN LOSS OF CATALYTIC ACTIVITY
European Journal of Biochemistry
DOI: 10.1111/j.1432-1033.1992.tb17182.x
1992

CORTICAL GLUCOSE-METABOLISM IN HUNTINGTONS-DISEASE
Neurology
1992

DELINEATION OF A 50 KILOBASE DNA SEGMENT CONTAINING THE RECOMBINATION SITE IN A SPORADIC CASE OF HUNTINGTONS-DISEASE
Nature Genetics
DOI: 10.1038/ng1192-216
1992

DETECTION OF THE PRO664-LEU MUTATION IN THE LOW-DENSITY-LIPOPROTEIN RECEPTOR AND ITS RELATION TO LIPOPROTEIN(A) LEVELS IN PATIENTS WITH FAMILIAL HYPERCHOLESTEROLEMIA OF DUTCH ANCESTRY FROM THE NETHERLANDS AND CANADA
Clinical Genetics
1992

EXCLUSION OF DNA CHANGES IN THE BETA-SUBUNIT OF THE C-GMP PHOSPHODIESTERASE GENE AS THE CAUSE FOR HUNTINGTONS-DISEASE
Nature Genetics
DOI: 10.1038/ng0592-104
1992

GENE-ENVIRONMENT INTERACTION IN THE CONVERSION OF A MILD TO SEVERE HYPERTRIGLYCERIDEMIA IN A PATIENT HOMOZYGOUS FOR A SER172- CYS MUTATION IN THE LIPOPROTEIN-LIPASE GENE
Circulation
1992

GENETIC EPIDEMIOLOGY OF LIPOPROTEIN-LIPASE DEFICIENCY IN SAGUENAY-LAC-ST-JEAN (QUEBEC, CANADA)
Annales De Genetique
1992

GENOMIC IMPRINTING IN THE INHERITANCE OF FAMILIAL HYPERTROPHIC CARDIOMYOPATHY
Circulation
1992

GEOGRAPHIC-DISTRIBUTION AND GENEALOGY OF MUTATION 207 OF THE LIPOPROTEIN-LIPASE GENE IN THE FRENCH-CANADIAN POPULATION OF QUEBEC
Human Genetics
1992

ISOLATION AND CHARACTERIZATION OF NEW HIGHLY POLYMORPHIC DNA MARKERS FROM THE HUNTINGTON DISEASE REGION
American Journal of Human Genetics
1992

MAPPING OF THE EPITOPE ON LIPOPROTEIN-LIPASE RECOGNIZED BY A MONOCLONAL-ANTIBODY (5D2) WHICH INHIBITS LIPASE ACTIVITY
Biochimica Et Biophysica Acta
DOI: 10.1016/0005-2760(92)90264-V
1992

MISMATCH PCR - A RAPID METHOD TO SCREEN FOR THE PRO(207)-]LEU MUTATION IN THE LIPOPROTEIN-LIPASE (LPL) GENE
Human Molecular Genetics
1992

MOLECULAR-GENETICS OF HUMAN LIPOPROTEIN-LIPASE DEFICIENCY
Molecular and Cellular Biochemistry
1992

MUTAGENESIS IN THE PROPOSED HERPARIN-BINDING SITE OF HUMAN LIPOPROTEIN-LIPASE
Circulation
1992

NEW INSIGHTS INTO THE CLINICAL-FEATURES, PATHOGENESIS AND MOLECULAR-GENETICS OF HUNTINGTON DISEASE
Brain Pathology
DOI: 10.1111/j.1750-3639.1992.tb00709.x
1992

NONRANDOM ASSOCIATION BETWEEN HUNTINGTON DISEASE AND 2 LOCI SEPARATED BY ABOUT 3-MB ON 4P-16.3
Genomics
DOI: 10.1016/0888-7543(92)90246-O
1992

PLASMA-LIPOPROTEINS AND LIPOPROTEIN-LIPASE IN FRENCH-CANADIANS HETEROZYGOUS FOR MISSENSE MUTATION IN THE LIPOPROTEIN-LIPASE GENE
Circulation
1992

POSITRON EMISSION TOMOGRAPHY SCANNING IN INDIVIDUALS AT RISK FOR HUNTINGTONS-DISEASE
Annals of Neurology
1992

PREDICTIVE TESTING FOR HUNTINGTON DISEASE
Journal of Medical Ethics
DOI: 10.1136/jme.18.1.47
1992

PREDICTIVE TESTING FOR HUNTINGTON DISEASE IN CANADA - ADVERSE-EFFECTS AND UNEXPECTED RESULTS IN THOSE RECEIVING A DECREASED RISK
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320420417
1992

PREDICTIVE TESTING FOR HUNTINGTON DISEASE IN CANADA - THE EXPERIENCE OF THOSE RECEIVING AN INCREASED RISK
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320420416
1992

PREVALENCE, GEOGRAPHICAL-DISTRIBUTION AND GENEALOGICAL INVESTIGATIONS OF MUTATION-188 OF LIPOPROTEIN-LIPASE GENE IN THE FRENCH-CANADIAN POPULATION OF QUEBEC
Clinical Genetics
1992

THE HUMAN BETA-SUBUNIT OF ROD PHOTORECEPTOR CGMP PHOSPHODIESTERASE - COMPLETE RETINAL CDNA SEQUENCE AND EVIDENCE FOR EXPRESSION IN BRAIN
Genomics
DOI: 10.1016/0888-7543(92)90144-H
1992

THE LIPOPROTEIN-LIPASE GLY188-]GLU MUTATION IN SOUTH AFRICANS OF INDIAN DESCENT - EVIDENCE SUGGESTING COMMON ORIGINS AND AN INCREASED FREQUENCY
Journal of Medical Genetics
DOI: 10.1136/jmg.29.2.119
1992

THE PREDICTION OF EXONS THROUGH AN ANALYSIS OF SPLICEABLE OPEN READING FRAMES
Nucleic Acids Research
DOI: 10.1093/nar/20.13.3453
1992

THE PSYCHOLOGICAL CONSEQUENCES OF PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE
New England Journal of Medicine
DOI: 10.1056/NEJM199211123272001
1992

THE SEARCH FOR MUTATIONS IN THE GENE FOR THE BETA-SUBUNIT OF THE CGMP PHOSPHODIESTERASE (PDEB) IN PATIENTS WITH AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA
American Journal of Human Genetics
1992

THE SENSITIVITY OF POSITRON EMISSION TOMOGRAPHY IN SYMPTOMATIC HUNTINGTONS-DISEASE
Annals of Neurology
1992

A LOW-COPY REPEAT LOCATED IN SUBTELOMERIC REGIONS OF 14 DIFFERENT HUMAN CHROMOSOMAL TERMINI
Cytogenetics and Cell Genetics
DOI: 10.1159/000133141
1991

A MUTATION IN THE HUMAN LIPOPROTEIN-LIPASE GENE AS THE MOST COMMON CAUSE OF FAMILIAL CHYLOMICRONEMIA IN FRENCH-CANADIANS
New England Journal of Medicine
DOI: 10.1056/NEJM199106203242502
1991

A POINT MUTATION IN EXON-5 OF THE LIPOPROTEIN-LIPASE GENE ACCOUNTS FOR THE MAJORITY OF ALLELES SEEN IN THE FRENCH-CANADIAN POPULATION
Clinical Research
1991

A POLYMORPHIC DNA MARKER AT THE D10S106 LOCUS
Nucleic Acids Research
DOI: 10.1093/nar/19.7.1725-a
1991

A POLYMORPHIC DNA MARKER AT THE D8S131 LOCUS
Nucleic Acids Research
DOI: 10.1093/nar/19.7.1725
1991

AMINO-ACID SUBSTITUTION (ILE194-]THR) IN EXON-5 OF THE LIPOPROTEIN-LIPASE GENE CAUSES LIPOPROTEIN-LIPASE DEFICIENCY IN 3 UNRELATED PROBANDS - SUPPORT FOR A MULTICENTRIC ORIGIN
Journal of Clinical Investigation
DOI: 10.1172/JCI115229
1991

CHARACTERIZATION OF 2 GENES IN A CANDIDATE REGION FOR THE HUNTINGTON DISEASE GENE
American Journal of Human Genetics
1991

CHOREA IN A PATIENT WITH WOLF-HIRSCHHORN SYNDROME IMPLICATION FOR HUNTINGTON DISEASE
American Journal of Human Genetics
1991

DEVELOPMENT OF LABORATORY GUIDELINES FOR PREDICTIVE TESTING FOR HUNTINGTON DISEASE (HD)
American Journal of Human Genetics
1991

FUNCTIONAL-EVALUATION OF MUTANT LIPOPROTEIN-LIPASE CONTAINING MISSENSE MUTATIONS ENCODED BY EXON-5
Clinical Research
1991

GENETIC AND ENVIRONMENTAL-FACTORS AFFECTING THE INCIDENCE OF CORONARY-ARTERY DISEASE IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA
Arteriosclerosis and Thrombosis
1991

GENETIC-LINKAGE BETWEEN HUNTINGTON DISEASE AND THE D4S10 LOCUS IN SOUTH-AFRICAN FAMILIES - FURTHER EVIDENCE AGAINST NON-ALLELIC HETEROGENEITY
Human Genetics
1991

GENOMIC ORGANIZATION AND COMPLETE SEQUENCE OF THE HUMAN GENE ENCODING THE BETA-SUBUNIT OF THE CGMP PHOSPHODIESTERASE AND ITS LOCALIZATION TO 4P16.3
Nucleic Acids Research
DOI: 10.1093/nar/19.22.6263
1991

HYPERCHYLOMICRONEMIA IN A LARGE FAMILY OF DUTCH DESCENT IS POSSIBLY CAUSED BY BOTH A MISSENSE MUTATION IN THE LPL GENE AND THE APO CII GENE
Thrombosis and Haemostasis
1991

IDENTIFICATION OF MULTIPLE CPG ISLANDS AND ASSOCIATED CONSERVED SEQUENCES IN A CANDIDATE REGION FOR THE HUNTINGTON DISEASE GENE
Genomics
DOI: 10.1016/0888-7543(91)90039-H
1991

IDENTIFICATION OF MULTIPLE CPG ISLANDS AND ASSOCIATED TRANSCRIPTS IN AN EXTENDED COSMID WALK OF 460-KB IN A CANDIDATE REGION FOR THE HUNTINGTON DISEASE (HD) GENE
American Journal of Human Genetics
1991

IDENTIFICATION OF NEW POLYMORPHIC DNA MARKERS FROM A CANDIDATE REGION FOR THE HD GENE
Cytogenetics and Cell Genetics
1991

IDENTIFICATION OF THE MOLECULAR DEFECTS UNDERLYING CHYLOMICRONEMIA AND THEIR CLINICAL AND HISTORICAL SIGNIFICANCE IN THE MAJORITY OF 71 SEPARATE PROBANDS WITH LPL DEFICIENCY
American Journal of Human Genetics
1991

IDENTIFICATION OF THE MOLECULAR DEFECTS UNDERLYING CHYLOMICRONEMIA IN THE MAJORITY OF 75 SEPARATE PROBANDS WITH LPL DEFICIENCY
Clinical Research
1991

INTRACHROMOSOMAL LOCATION OF THE TELOMERIC REPEAT (TTAGGG)N
Mammalian Genome
DOI: 10.1007/BF00352327
1991

LINKAGE DISEQUILIBRIUM AND MODIFICATION OF RISK FOR HUNTINGTON DISEASE
American Journal of Human Genetics
1991

MOLECULAR AND BIOCHEMICAL-EVIDENCE FOR AN INTERSTITIAL DELETION ASSOCIATED WITH AN INVERTED TANDEM DUPLICATION OF THE SHORT ARM OF CHROMOSOME-8
American Journal of Human Genetics
1991

MOLECULAR CHARACTERIZATION OF AN UNDETECTED SUBMICROSCOPIC DELETION CAUSING WOLF-HIRSCHHORN SYNDROME
American Journal of Human Genetics
1991

MUTATIONS IN THE LPL-GENE CAUSING HYPERCHYLOMICRONEMIA IN THE NETHERLANDS
Thrombosis and Haemostasis
1991

NO HARM, POTENTIAL BENEFIT - THE ONE YEAR FOLLOW-UP OF PARTICIPANTS IN THE CANADIAN COLLABORATIVE STUDY OF PREDICTIVE TESTING (CCSPT) FOR HUNTINGTONS-DISEASE (HD)
American Journal of Human Genetics
1991

PREDICTIVE MEDICINE FOR LATE ONSET DISORDERS - THE EXPERIENCE OF HUNTINGTON DISEASE
American Journal of Human Genetics
1991

PREDICTIVE TESTING FOR HUNTINGTON DISEASE - ARE WE READY FOR WIDESPREAD COMMUNITY IMPLEMENTATION
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320400430
1991

PRENATAL TESTING FOR ADULT-ONSET DISORDERS - LOW ACCEPTANCE RATE IN FAMILIES WITH HUNTINGTON DISEASE (HD)
American Journal of Human Genetics
1991

THE FDG/PET METHODOLOGY FOR EARLY DETECTION OF DISEASE ONSET - A STATISTICAL-MODEL
Journal of Cerebral Blood Flow and Metabolism
1991

THE RELATIONSHIP BETWEEN CLINICAL, MOLECULAR GENETIC AND POSITRON EMISSION TOMOGRAPHY FINDINGS IN PERSONS AT RISK FOR HUNTINGTONS-DISEASE (HD)
American Journal of Human Genetics
1991

A MISSENSE MUTATION AT CODON-188 OF THE HUMAN LIPOPROTEIN-LIPASE GENE IS A FREQUENT CAUSE OF LIPOPROTEIN-LIPASE DEFICIENCY IN PERSONS OF DIFFERENT ANCESTRIES
Journal of Clinical Investigation
DOI: 10.1172/JCI114769
1990

CHARACTERIZATION AND ORGANIZATION OF DNA-SEQUENCES ADJACENT TO THE HUMAN TELOMERE ASSOCIATED REPEAT (TTAGGG)N
Nucleic Acids Research
DOI: 10.1093/nar/18.11.3353
1990

CHARACTERIZATION OF A LIPOPROTEIN-LIPASE CLASS-III TYPE DEFECT IN HYPERTRIGLYCERIDEMIC CATS
Clinical and Investigative Medicine-Medecine Clinique Et Experimentale
1990

DNA TESTING FOR HUNTINGTON DISEASE RESULTS IN A MODIFICATION OF RISK AND NOT DIAGNOSIS OF DISEASE
European Journal of Pediatrics
DOI: 10.1007/BF01959407
1990

ETHICAL AND LEGAL DILEMMAS ARISING DURING PREDICTIVE TESTING FOR ADULT-ONSET DISEASE - THE EXPERIENCE OF HUNTINGTON DISEASE
American Journal of Human Genetics
1990

FRAMESHIFT MUTATION IN EXON-3 OF THE LIPOPROTEIN-LIPASE GENE CAUSES A PREMATURE STOP CODON AND LIPOPROTEIN-LIPASE DEFICIENCY
Molecular Biology & Medicine
1990

GENETIC AND ENVIRONMENTAL-FACTORS AFFECTING THE INCIDENCE OF CORONARY-ARTERY DISEASE IN HETEROZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA (FH)
Arteriosclerosis
1990

HUMAN LIPOPROTEIN-LIPASE - FROM GENE TO PROTEIN
Drugs Affecting Lipid Metabolism X
1990

IDENTIFICATION OF SEVERAL MOLECULAR DEFECTS RESPONSIBLE FOR FAMILIAL LECITHIN - CHOLESTEROL ACYLTRANSFERASE (LCAT) DEFICIENCY
Arteriosclerosis
1990

PARTIAL GENE DUPLICATION INVOLVING EXON-ALU INTERCHANGE RESULTS IN LIPOPROTEIN-LIPASE DEFICIENCY
American Journal of Human Genetics
1990

PREDICTIVE TESTING FOR HUNTINGTON DISEASE IN CHILDHOOD - CHALLENGES AND IMPLICATIONS - OPINION
American Journal of Human Genetics
1990

REGIONAL CEREBRAL GLUCOSE-METABOLISM IN TURNER SYNDROME
Canadian Journal of Neurological Sciences
1990

THE GENE CAUSING FAMILIAL HYPOALPHALIPOPROTEINEMIA IS NOT CAUSED BY A DEFECT IN THE APO-AI-CIII-AIV GENE-CLUSTER IN A SPANISH FAMILY
Human Genetics
1990

A DELETION MAP OF THE WAGR REGION ON CHROMOSOME-II
American Journal of Human Genetics
1989

A MAJOR INSERTION ACCOUNTS FOR A SIGNIFICANT PROPORTION OF MUTATIONS UNDERLYING HUMAN LIPOPROTEIN-LIPASE DEFICIENCY
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.86.3.948
1989

ARTHROGRYPOSIS, FACIAL DYSMORPHISM, HYPOPITUITARISM AND MENTAL-RETARDATION - A NEW SYNDROME
Pediatric Research
1989

CHARACTERIZATION OF 6 PARTIAL DELETIONS IN THE LOW-DENSITY-LIPOPROTEIN (LDL) RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA (FH) AND PREMATURE ATHEROSCLEROSIS
Thrombosis and Haemostasis
1989

DIFFERENT OPTIONS FOR PRENATAL TESTING FOR HUNTINGTONS-DISEASE USING DNA PROBES
Journal of Medical Genetics
DOI: 10.1136/jmg.26.6.353
1989

ELECTROPHYSIOLOGIC PREDICTIVE TESTING IN HUNTINGTONS-DISEASE
Muscle & Nerve
1989

EPIPHYSEAL DYSPLASIA, MICROCEPHALY, NYSTAGMUS, AND RETINITIS PIGMENTOSA
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320330311
1989

EVIDENCE FROM FAMILY STUDIES THAT THE GENE CAUSING HUNTINGTON DISEASE IS TELOMERIC TO D4S95 AND D4S90
American Journal of Human Genetics
1989

FAMILIAL HYPOALPHALIPOPROTEINEMIA (FHA) IS NOT CAUSED BY A DEFECT IN THE GENE FOR APOLIPOPROTEIN AI (APO AI)
Thrombosis and Haemostasis
1989

FAMILIAL LIPOPROTEIN-LIPASE DEFICIENCY
Atherosclerosis Viii
1989

HUNTINGTON DISEASE - NO EVIDENCE FOR LOCUS HETEROGENEITY
Genomics
DOI: 10.1016/0888-7543(89)90062-1
1989

INSURANCE AND THE PRESYMPTOMATIC DIAGNOSIS OF DELAYED-ONSET DISEASE
Jama-Journal of the American Medical Association
DOI: 10.1001/jama.262.17.2384
1989

MARFANS-SYNDROME
Canadian Medical Association Journal
1989

METHYLATION AT THE D4S95 LOCUS AND PREDICTIVE TESTING
American Journal of Human Genetics
1989

NON-RANDOM ASSOCIATION BETWEEN ALLELES DETECTED AT D4S95 AND D4S98 AND THE HUNTINGTONS-DISEASE GENE
Journal of Medical Genetics
DOI: 10.1136/jmg.26.11.676
1989

PERINATAL AND 1ST YEAR FOLLOW-UP OF PATIENTS WITH PRADER-WILLI SYNDROME - NORMAL SIZE OF HANDS AND FEET
Clinical Genetics
1989

PREDICTIVE TESTING FOR HUNTINGTON DISEASE .1. DESCRIPTION OF A PILOT PROJECT IN BRITISH-COLUMBIA
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320320214
1989

PREDICTIVE TESTING FOR HUNTINGTON DISEASE .2. DEMOGRAPHIC CHARACTERISTICS, LIFE-STYLE PATTERNS, ATTITUDES, AND PSYCHOSOCIAL ASSESSMENTS OF THE 1ST 51 TEST CANDIDATES
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320320215
1989

SILENT PERIODS, LONG-LATENCY REFLEXES AND CORTICAL MEPS IN HUNTINGTONS-DISEASE AND AT-RISK RELATIVES
Electroencephalography and Clinical Neurophysiology
DOI: 10.1016/0168-5597(89)90034-8
1989

THE GENETIC-ASPECTS OF ATHEROSCLEROSIS AND HYPERLIPIDEMIA
Canadian Medical Association Journal
1989

THE SEARCH FOR A DNA MARKER FLANKING THE HUNTINGTONS-DISEASE GENE
Cytogenetics and Cell Genetics
1989

A COMPOUND HETEROZYGOTE FOR LIPOPROTEIN-LIPASE DEFICIENCY CAUSED BY 2 DISTINCT MAJOR STRUCTURAL REARRANGEMENTS IN THE LIPOPROTEIN-LIPASE GENE
Clinical Research
1988

A HIGHLY POLYMORPHIC LOCUS VERY TIGHTLY LINKED TO THE HUNTINGTONS-DISEASE GENE
Nature
DOI: 10.1038/332734a0
1988

A POLYMORPHIC DNA MARKER THAT REPRESENTS A CONSERVED EXPRESSED SEQUENCE IN THE REGION OF THE HUNTINGTON DISEASE GENE
American Journal of Human Genetics
1988

CHARACTERIZATION OF 6 PARTIAL DELETIONS IN THE LOW-DENSITY-LIPOPROTEIN (LDL) RECEPTOR GENE CAUSING FAMILIAL HYPERCHOLESTEROLEMIA (FH)
American Journal of Human Genetics
1988

COMPARISON OF GEMFIBROZIL AND CLOFIBRATE ON SERUM-LIPIDS IN FAMILIAL COMBINED HYPERLIPIDEMIA - A RANDOMIZED PLACEBO-CONTROLLED, DOUBLE-BLIND, CROSSOVER CLINICAL-TRIAL
Atherosclerosis
DOI: 10.1016/0021-9150(88)90046-9
1988

GLUCOSE METABOLIC PARAMETERS IN THE PET DIAGNOSIS OF HUNTINGTONS-DISEASE
Australian and New Zealand Journal of Medicine
1988

IMPROVED PREDICTIVE TESTING FOR HUNTINGTON DISEASE BY USING 3 LINKED DNA MARKERS
American Journal of Human Genetics
1988

PREDICTIVE TESTING FOR HUNTINGTON DISEASE USING LINKED DNA MARKERS
Clinical Research
1988

PREDICTIVE TESTING FOR HUNTINGTONS-DISEASE USING LINKED DNA MARKERS
New England Journal of Medicine
1988

PRENATAL-DIAGNOSIS OF ASPLENIA POLYSPLENIA SYNDROME
American Journal of Obstetrics and Gynecology
1988

PRESYMPTOMATIC NEUROPSYCHOLOGICAL IMPAIRMENT IN HUNTINGTONS-DISEASE
Archives of Neurology
1988

PSYCHIATRIC MORBIDITY ASSOCIATED WITH EARLY CLINICAL-DIAGNOSIS OF HUNTINGTON DISEASE IN A PREDICTIVE TESTING PROGRAM
Journal of Clinical Psychiatry
1988

SEQUENCE AND EXPRESSION OF TANGIER APOA-I GENE
European Journal of Biochemistry
DOI: 10.1111/j.1432-1033.1988.tb14022.x
1988

1ST-TRIMESTER PRENATAL-DIAGNOSIS FOR HUNTINGTONS-DISEASE WITH DNA PROBES
Lancet
1987

A NEW POLYMORPHIC DNA MARKER (D4S62) WHICH MAPS CLOSE TO THE GENE FOR HUNTINGTON DISEASE
Canadian Journal of Neurological Sciences
1987

A POLYMORPHIC DNA MARKER WHICH REPRESENTS A CONSERVED EXPRESSED SEQUENCE IN THE REGION OF THE HUNTINGTON DISEASE GENE
Cytogenetics and Cell Genetics
1987

A POLYMORPHIC DNA PROBE LOCATED TO HUMAN-CHROMOSOME 4P16 (D4S62)
Nucleic Acids Research
DOI: 10.1093/nar/15.9.3938
1987

APOLIPOPROTEIN-B GENE VARIANTS ARE INVOLVED IN THE DETERMINATION OF SERUM-CHOLESTEROL LEVELS - A STUDY IN NORMOLIPIDEMIC AND HYPERLIPEMIC INDIVIDUALS
Atherosclerosis
DOI: 10.1016/0021-9150(87)90267-X
1987

ARRESTED EPIDERMAL MORPHOGENESIS IN 3 NEWBORN-INFANTS WITH A FATAL GENETIC DISORDER (RESTRICTIVE DERMOPATHY)
Journal of Investigative Dermatology
DOI: 10.1111/1523-1747.ep12466219
1987

CEREBRAL GLUCOSE AND DOPA METABOLISM IN MOVEMENT-DISORDERS
Canadian Journal of Neurological Sciences
1987

COMBINED POSITRON EMISSION TOMOGRAPHY AND DNA STUDIES MAY IDENTIFY RECOMBINATION BETWEEN THE LINKED MARKER AND THE GENE IN ASYMPTOMATIC INDIVIDUALS AT RISK FOR HUNTINGTONS-DISEASE
Annals of Neurology
1987

CONTROLLING FOR CEREBRAL ATROPHY IN POSITRON EMISSION TOMOGRAPHY DATA
Journal of Cerebral Blood Flow and Metabolism
1987

DNA POLYMORPHISMS IN AND AROUND THE APO-A1-CIII GENES AND GENETIC HYPERLIPIDEMIAS
American Journal of Human Genetics
1987

ETHICAL ISSUES IN PRECLINICAL TESTING IN HUNTINGTON DISEASE - RESPONSE
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320280329
1987

EVIDENCE THAT PARAMYOTONIA CONGENITA IS ALLELIC TO MYOTONIC-DYSTROPHY
Cytogenetics and Cell Genetics
1987

FURTHER EVIDENCE FOR THE LACK OF HETEROGENEITY OF LINKAGE OF HUNTINGTON DISEASE TO D4S10
Cytogenetics and Cell Genetics
1987

GAUCHERS-DISEASE IN THE CAPE COLORED POPULATION OF THE RSA, INCLUDING A FAMILY WITH 5 AFFECTED SIBLINGS
South African Medical Journal
1987

HYPOALPHALIPOPROTEINEMIA RESEMBLING FISH EYE DISEASE
Acta Medica Scandinavica
1987

INSUFFICIENT EVIDENCE TO INVOKE DEFECTS IN OR AROUND THE A-I GENE AS THE CAUSE FOR FAMILIAL HYPOALPHALIPOPROTEINEMIA
Atherosclerosis
DOI: 10.1016/0021-9150(87)90289-9
1987

INTERACTION OF HIGH-DENSITY-LIPOPROTEIN WITH ADIPOCYTES IN A NEW PATIENT WITH TANGIER DISEASE
Clinical and Investigative Medicine-Medecine Clinique Et Experimentale
1987

MOLECULAR-GENETICS AND HUNTINGTONS-DISEASE - THE SOUTH-AFRICAN SITUATION
South African Medical Journal
1987

PRECLINICAL TESTING IN HUNTINGTON DISEASE
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320270333
1987

STUDIES IN PERSONS AT RISK FOR HUNTINGTONS-DISEASE
New England Journal of Medicine
1987

THE COMBINED USE OF POSITRON EMISSION TOMOGRAPHY AND DNA POLYMORPHISM FOR PRECLINICAL DETECTION OF HUNTINGTON DISEASE
Canadian Journal of Neurological Sciences
1987

THE COMBINED USE OF POSITRON EMISSION TOMOGRAPHY AND DNA POLYMORPHISMS FOR PRECLINICAL DETECTION OF HUNTINGTONS-DISEASE
Neurology
1987

A FAMILY WITH HUNTINGTON DISEASE AND RECIPROCAL TRANSLOCATION 4-5
American Journal of Human Genetics
1986

DOPAMINE IN HUNTINGTONS-DISEASE - STUDIES USING POSITRON EMISSION TOMOGRAPHY
Neurology
1986

LINKAGE OF THE G8 MARKER ON CHROMOSOME-4 TO HUNTINGTONS-DISEASE IN A LARGE AMERICAN BLACK-FAMILY
New England Journal of Medicine
1986

POSITRON EMISSION TOMOGRAPHY IN THE EARLY DIAGNOSIS OF HUNTINGTONS-DISEASE
Neurology
1986

PREDICTIVE STUDIES IN HUNTINGTONS-DISEASE
Neurology
1986

REGRESSION-MODEL FOR PREDICTING DISSOCIATIONS OF REGIONAL CEREBRAL GLUCOSE-METABOLISM IN INDIVIDUALS AT RISK FOR HUNTINGTONS-DISEASE
Journal of Cerebral Blood Flow and Metabolism
1986

RESTRICTIVE DERMOPATHY - A NEWLY RECOGNIZED AUTOSOMAL RECESSIVE SKIN DYSPLASIA
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320240408
1986

SUBREGIONAL ASSIGNMENT OF THE LINKED MARKER G8 (D4S10) FOR HUNTINGTON DISEASE TO CHROMOSOME 4P16.1-16.3
American Journal of Human Genetics
1986

AGE OF ONSET IN SIBLINGS OF PERSONS WITH JUVENILE HUNTINGTON DISEASE
Clinical Genetics
1985

BRIEF CLINICAL REPORT - BILATERAL RENAL AGENESIS IN TWINS
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320210122
1985

DELETION OF HUNTINGTONS DISEASE-LINKED G8 (D4S10) LOCUS IN WOLF-HIRSCHHORN SYNDROME
Nature
DOI: 10.1038/318075a0
1985

DELETION OF THE HUNTINGTONS DISEASE-LINKED D4S10 LOCUS IN WOLF-HIRSCHHORN SYNDROME
Cytogenetics and Cell Genetics
1985

LIPID AND LIPOPROTEIN CHARACTERISTICS OF PATIENTS REFERRED TO A LIPID CLINIC
Clinical and Investigative Medicine-Medecine Clinique Et Experimentale
1985

PET STUDIES OF GLUCOSE-METABOLISM IN HUNTINGTONS-DISEASE
Canadian Journal of Neurological Sciences
1985

PRECLINICAL DETECTION OF HUNTINGTON DISEASE USING LINKED DNA POLYMORPHIC MARKERS AND POSITRON EMISSION TOMOGRAPHY (PET)
Clinical Research
1985

SUBREGIONAL ASSIGNMENT OF THE LINKED MARKER D4S10 (G8) FOR HUNTINGTON DISEASE BY INSITU HYBRIDIZATION
Cytogenetics and Cell Genetics
1985

URINARY PROTEINS IN A PATIENT WITH TANGIER DISEASE
Clinical Biochemistry
DOI: 10.1016/S0009-9120(85)80089-8
1985

A RISK CURVE FOR COUNSELING ASYMPTOMATIC SIBLINGS OF PERSONS WITH JUVENILE ONSET HUNTINGTON DISEASE
Clinical Research
1984

BENIGN HEREDITARY CHOREA - CLINICAL, RADIOLOGICAL AND PET FINDINGS
Canadian Journal of Neurological Sciences
1984

DOWNS-SYNDROME AND ALZHEIMERS-DISEASE
Annals of Neurology
DOI: 10.1002/ana.410160221
1984

MOLECULAR GENETIC APPROACHES TO THE STUDY OF THE NERVOUS-SYSTEM
Developmental Neuroscience
1984

PLASMA LCAT AND RED-BLOOD-CELL MEMBRANE-COMPOSITION IN TANGIER DISEASE
Clinical Research
1984

POSITRON EMISSION TOMOGRAPHY IN THE STUDY OF DISORDERS OF THE BASAL GANGLIA
Canadian Journal of Neurological Sciences
1984

STRIATAL METABOLISM IN HUNTINGTONS-DISEASE AND IN BENIGN HEREDITARY CHOREA
Annals of Neurology
1984

IS PROAPOLIPOPROTEIN-A-I EXCRETED IN URINE OF A PATIENT WITH TANGIER DISEASE
American Journal of Human Genetics
1983

REFLECTIONS ON THE HISTORY OF HUNTINGTONS-CHOREA
Trends in Neurosciences
DOI: 10.1016/0166-2236(83)90062-0
1983

GENETIC-ASPECTS OF HUNTINGTONS-CHOREA - RESULTS OF A NATIONAL SURVEY
American Journal of Medical Genetics
DOI: 10.1002/ajmg.1320110203
1982

THE HIGH-FREQUENCY OF JUVENILE HUNTINGTONS-CHOREA IN SOUTH-AFRICA
Journal of Medical Genetics
DOI: 10.1136/jmg.19.2.94
1982

HUNTINGTONS-CHOREA
South African Medical Journal
1981

HUNTINGTONS-CHOREA ON THE ISLAND OF MAURITIUS
South African Medical Journal
1981

ON THE HIGH-FREQUENCY OF PATRILINEAL DESCENT AND FAMILIAL AGGREGATION IN JUVENILE HUNTINGTONS-DISEASE
American Journal of Human Genetics
1981

SOCIAL PERSPECTIVES IN HUNTINGTONS-CHOREA
South African Medical Journal
1980

THE ORIGIN OF HUNTINGTONS-CHOREA IN THE AFRIKANER POPULATION OF SOUTH-AFRICA
South African Medical Journal
1980

THE PREVALENCE OF HUNTINGTONS-CHOREA IN SOUTH-AFRICA
South African Medical Journal
1980

FETAL ALCOHOL SYNDROME
South African Medical Journal
1978

HUNTINGTONS-CHOREA IN CAPE COLORED COMMUNITY OF SOUTH-AFRICA
South African Medical Journal
1977

IMPAIRED PROLACTIN-RELEASE IN HUNTINGTONS-CHOREA - EVIDENCE FOR DOPAMINERGIC EXCESS
Lancet
1977

Research

The Role of ABCA1 on Cellular Cholesterol Homeostasis and Beta-Cell Function
Type 2 diabetes is caused by the inability of endocrine cells in the pancreas to meet the increasing metabolic demands and insulin resistance brought on by obesity and ageing. Impaired ß-cell function is an early step in the pathogenesis of type 2 diabetes; however, the reasons for the development of ß-cell dysfunction in diabetes are not completely understood. One emerging theme is that the build-up of toxic lipids such as cholesterol leads to ß-cell destruction. ABCA1 regulates the removal of excess cellular cholesterol to an apolipoprotein receptor. We discovered that mice lacking ABCA1 have impaired glucose tolerance and that ABCA1 is highly expressed in islet cells of the pancreas. Using conditional gene targeting in mice to specifically inactivate Abca1 in ß-cells, we found that the lack of ABCA1 in these cells markedly impaired insulin secretion due to a cholesterol-dependent reduction in insulin granule exocytosis. We found that cholesterol efflux via ABCA1 is the primary contributor to maintenance of beta cell cholesterol homeostasis and that carriers of loss-of-function mutations in ABCA1 show impaired insulin secretion without any change in insulin sensitivity. We have recently shown that microRNA-33a (miR-33a) is expressed in pancreatic islets and in vitro modulation of its expression impacts ABCA1 protein levels in islets, thereby affecting intracellular cholesterol levels and insulin secretion. Our findings establish a novel role for ABCA1 in ß-cell cholesterol homeostasis and insulin secretion, and suggest that cholesterol accumulation may contribute to ß-cell dysfunction in type 2 diabetes, and point to ß-cell ABCA1 as a novel therapeutic target for this disease.

Silencing the gene that causes Huntington disease
The mutant huntingtin protein, the cause of Huntington disease (HD), accumulates within cells and engages in a variety of aberrant interactions. Preventing generation of this toxic protein by gene silencing, the process of switching off a gene, should prevent all subsequent pathology and prevent or delay the onset of HD. Everyone has two copies of the huntingtin gene. In HD, one of these copies carries the mutation while the other copy is normal. The normal huntingtin protein is important for maintaining neuronal health, and long-term reduction of this protein may not be well-tolerated. We are developing a strategy of silencing only the mutant copy of a patient’s huntingtin gene using antisense oligonucleotides targeted to HD mutation-associated single nucleotide polymorphisms as a treatment for HD.

The overall goal of this work is to delineate important steps in the pathogenesis of HD and to assess novel approaches to treating this disease.

Exploration of the Pathogenesis of Huntington's Disease and Evaluation of Novel Therapeutic Strategies
We have developed a YAC model for Huntington disease (HD) (YAC128) which displays age and CAG-dependent phenotypes that recapitulate many features of the human disease. Specifically, enhanced susceptibility to excitotoxic stress, protein cleavage and nuclear localization of (huntingtin) htt occurs early and precedes the cognitive dysfunction, motor deficits and selective striatal degeneration of HD.

We have recently provided compelling in vivo evidence that caspase-6 cleavage of mutant htt (mhtt) at amino acid (aa) 586 is a crucial, rate limiting event in the pathogenesis of HD. Mice expressing mhtt resistant to cleavage at the 586aa caspase-6 site (C6R) maintain normal neuronal function and do not develop cognitive or neurological abnormalities or any evidence of neurodegeneration. This represents the first intervention in any animal model for HD to prevent motor, cognitive and neuropathological features of HD. This finding supports further experiments to address critical questions including mechanisms for toxicity of the 586aa fragment, determination of initiating events leading to caspase-6 activation and whether decreasing levels of caspase-6 is associated with amelioration of HD.

The sequence of events between excitotoxicity and cleavage of htt is unknown. Alterations of the kynurenine pathway and NMDAR activity are early events in the pathogenesis of HD. Delineation of the natural history and the relationship between these features of excitotoxicity and cleavage of htt is crucial as it will provide data for designing effective therapeutic strategies for this disease. We will evaluate compounds known to modulate these two pathways, using reagents and approaches well established in our laboratory, in primary neuronal cultures and in the YAC128 model of HD to determine if these are viable therapeutic approaches for HD. If an excitotoxic insult is the upstream event that initiates cleavage of mhtt at the caspase-6 site, drugs that inhibit excitotoxicity would be expected to be associated with less cleavage as this site.

There is considerable evidence that post translational modification of htt by phosphorylation and palmitoylation play a role in the pathogenesis of HD. The mutation for HD disturbs the interaction of htt with the htt interacting protein 14 (Hip14), now known to be a palmitoyl-transferease leading to less palmitoylation of mhtt and enhanced neuronal toxicity. These findings directly link alterations in palmitoylation of htt with neurodegeneration in HD.

Grants

Team grant: Drug Safety and Effectiveness Network Collaborating Centre for Prospective Studies (DSEN PREVENT) (CIHR)

Regulation of Function and Activity of ABCA1 (CIHR)

Implementation of a Pharmacogenetic ADR Prevention Program in B.C. (Genome BC)

Honours & Awards

Inductee, Canadian Medical Hall of Fame, 2017

Honorary Doctorate, University of Gottingen, Germany, 2014

Aubrey J. Tingle Prize, Michael Smith Foundation for Health Research, 2011

Research Group Members

Amirah Aly, Postdoctoral Fellow
Lisa Anderson, Research Asst/Tech 3
Helen Baddeley, Research Assistant
Stephanie Bortnick, Laboratory Manager
Nicholas Caron, Postdoctoral Research Fellow
Enzo Casal, Research Technician II
Jennifer Collins, Research Scientist/HD BioBank Coordinator
Louisa Dal Cengio, Research Assistant/Technician 2
Jaime Fernando, Research Asst/Tech 1
Hailey Findlay-Black, Graduate Student
Elizabeth Hui, Research Asst/Tech 3
Chris Kay, Postdoctoral Fellow
Yun Ko, Research Asst/Tech 2
Fanny Lemarie, Postdoctoral Fellow
Rogel Matanguihan, Research Asst/Tech 1
Jovenal Morales, Research Asst/Tech 1
Dawn Ng, Human Resources Manager
Betty Nguyen, Research Assistant
Xiaofan Qiu, Research Technician
Garret Ruiz, Research Asst/Tech 1
Mandi Schmidt, Graduate Research Assistant
Jessica Shum, Research Coordinator
Julia Switzer, Lab Assistant:
Robert Tiszolczi, Financial Accounts Manager
Mark Wang, Animal Technician
Qing Wang, Research Asst/Tech 2
Galen Wright, Research Associate
Qingwen Xia, Research Asst/Tech 2
William Yip, Volunteer