BCCHR Researchers Find a Researcher

Marion Coulter-Mackie

PhD

Investigator Emerita, BC Children's Hospital

My research program involves molecular biological approaches to studying inherited metabolic disorders. My overall aim has been to identify and characterize causative mutations and their application to diagnosis, to examine the diverse consequences of missense mutations, and to determine the potential for pharmacological intervention with small molecule chemical chaperones.

Academic Affiliations

Associate Professor Emeritus/a, , Department of Pediatrics, Faculty of Medicine, University of British Columbia
Research Theme: Childhood Diseases
Research Group(s): Rare Diseases

Contact Information

Location

4500 Oak St, Vancouver, BC, Canada, V6H 3N1

marioncm@mail.ubc.ca

SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype

Biochemical Genetics

Coulter-Mackie, M.B.

DOI: 10.1007/s10528-015-9667-z

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

American Journal of Human Genetics

Van Karnebeek, C.D. and Sly, W.S. and Ross, C.J. and Salvarinova, R. and Yaplito-Lee, J. and Santra, S. and Shyr, C. and Horvath, G.A. and Eydoux, P. and Lehman, A.M. and Bernard, V. and Newlove, T. and Ukpeh, H. and Chakrapani, A. and Preece, M.A. and Ball, S. and Pitt, J. and Vallance, H.D. and Coulter-Mackie, M. and Nguyen, H. and Zhang, L.-H. and Bhavsar, A.P. and Sinclair, G. and Waheed, A. and Wasserman, W.W. and Stockler-Ipsiroglu, S.

DOI: 10.1016/j.ajhg.2014.01.006

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Tiebout, S. and van Karnebeek, C. and Stockler, S.

DOI: 10.1016/j.ymgme.2014.02.010

Variability of phenotype in two sisters with pyridoxine dependent epilepsy

Canadian Journal of Neurological Sciences

Alfadhel, M. and Sirrs, S. and Waters, P.J. and Szeitz, A. and Struys, E. and Coulter-Mackie, M. and Stockler-Ipsiroglu, S.

DOI: 10.1017/S0317167100014050

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Li, A. and Lian, Q. and Struys, E. and Stockler, S. and Waters, P.J.

DOI: 10.1016/j.ymgme.2012.06.008

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy

Pediatrics

Mercimek-Mahmutoglu, S. and Horvath, G.A. and Coulter-Mackie, M. and Nelson, T. and Waters, P.J. and Sargent, M. and Struys, E. and Jakobs, C. and Stockler-Ipsiroglu, S. and Connolly, M.B.

DOI: 10.1542/peds.2011-0123

Pyridoxine dependent epilepsy and antiquitin deficiency. Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Molecular Genetics and Metabolism

Stockler, S. and Plecko, B. and Gospe, S.M. and Coulter-Mackie, M. and Connolly, M. and van Karnebeek, C. and Mercimek-Mahmutoglu, S. and Hartmann, H. and Scharer, G. and Struijs, E. and Tein, I. and Jakobs, C. and Clayton, P. and Van Hove, J.L.K.

DOI: 10.1016/j.ymgme.2011.05.014

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin

Cephalalgia

Horvath, G.A. and Selby, K. and Poskitt, K. and Hyland, K. and Waters, P.J. and Coulter-Mackie, M. and Stockler-Ipsiroglu, S.G.

DOI: 10.1177/0333102411420584

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

Molecular Genetics and Metabolism

Brunel-Guitton, C. and Casey, B. and Coulter-Mackie, M. and Vallance, H. and Hewes, D. and Stockler-Ipsiroglu, S. and Mercimek-Mahmutoglu, S.

DOI: 10.1016/j.ymgme.2011.02.009

Primary hyperoxaluria type 1: Update and additional mutation analysis of the AGXT gene

Human Mutation

Williams, E.L. and Acquaviva, C. and Amoroso, A. and Chevalier, F. and Coulter-Mackie, M. and Monico, C.G. and Giachino, D. and Owen, T. and Robbiano, A. and Salido, E. and Waterham, H. and Rumsby, G.

DOI: 10.1002/humu.21021

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Lian, Q.

DOI: 10.1016/j.ymgme.2008.03.010

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results

Clinical Biochemistry

Coulter-Mackie, M.B. and Lian, Q. and Applegarth, D.A. and Toone, J. and Waters, P.J. and Vallance, H.

DOI: 10.1016/j.clinbiochem.2008.01.018

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification

Molecular Genetics and Metabolism

Vallance, H. and Morris, T.J. and Coulter-Mackie, M. and Lim-Steele, J. and Kaback, M.

DOI: 10.1016/j.ymgme.2005.10.012

4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?

Kidney International

Coulter-Mackie, M.B.

DOI: 10.1038/sj.ki.5001987

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Lian, Q.

DOI: 10.1016/j.ymgme.2006.07.013

Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: Renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor

Protein Expression and Purification

Coulter-Mackie, M.B. and Lian, Q. and Wong, S.G.

DOI: 10.1016/j.pep.2004.11.004

Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype

American Journal of Nephrology

Coulter-Mackie, M.B.

DOI: 10.1159/000086356

The major allele of the alanine:glyoxylate aminotransferase gene: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Lian, Q. and Applegarth, D. and Toone, J.

DOI: 10.1016/j.ymgme.2005.05.005

Genetic heterogeneity in primary hyperoxaluria type 1: Impact on diagnosis

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Rumsby, G.

DOI: 10.1016/j.ymgme.2004.08.009

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias

Kidney International

Rumsby, G. and Williams, E. and Coulter-Mackie, M.

DOI: 10.1111/j.1523-1755.2004.00842.x

The major allele of the alanine:glyoxylate aminotransferase gene: Seven novel mutations causing primary hyperoxaluria type 1

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Applegarth, D. and Toone, J.R. and Henderson, H.

DOI: 10.1016/j.ymgme.2004.02.001

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)

Molecular Genetics and Metabolism

Toone, J.R. and Applegarth, D.A. and Levy, H.L. and Coulter-Mackie, M.B. and Lee, G.

DOI: 10.1016/S1096-7192(03)00115-X

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Gagnier, L.

DOI: 10.1016/S1096-7192(03)00077-5

The AGT gene in Africa: A distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Tung, A. and Henderson, H.E. and Toone, J.R. and Applegarth, D.A.

DOI: 10.1016/S1096-7192(02)00204-4

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

Molecular Genetics and Metabolism

Toone, J.R. and Applegarth, D.A. and Kure, S. and Coulter-Mackie, M.B. and Sazegar, P. and Kojima, K. and Ichinohe, A.

DOI: 10.1016/S1096-7192(02)00041-0

Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy) [1]

Prenatal Diagnosis

Applegarth, D.A. and Rolland, M.-O. and Toone, J.R. and Coulter-Mackie, M. and Saura, R.

DOI: 10.1002/pd.293

Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: A recurrent mutation

Canadian Journal of Neurological Sciences

Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J.R. and Gagnier, L. and Anzarut, A.R. and Hendson, G.

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism

Journal of Medical Genetics

M B Coulter-Mackie

DOI: 10.1136/jmg.38.5.e15

05 / 2001

Three novel deletions in the alanine: Glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria

Molecular Genetics and Metabolism

Coulter-Mackie, M.B. and Rumsby, G. and Applegarth, D.A. and Toone, J.R.

DOI: 10.1006/mgme.2001.3222

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism.

Journal of medical genetics

Coulter-Mackie, M.B. and Rip, J. and Beis, M.J. and Ferreira, P. and Ludman, M.D.

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Human mutation

Toone, J.R. and Applegarth, D.A. and Coulter-Mackie, M.B. and James, E.R.

DOI: 10.1002/1098-1004(2001)17:1u003C76::AID-HUMU17u003E3.0.CO;2-0

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)¹

Molecular Genetics and Metabolism

Toone, J.R. and Applegarth, D.A. and Coulter-Mackie, M.B. and James, E.R.

DOI: 10.1006/mgme.2001.3158

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

Molecular Genetics and Metabolism

Toone, J.R. and Applegarth, D.A. and Coulter-Mackie, M.B. and James, E.R.

DOI: 10.1006/mgme.2000.3000

Variable onset of metachromatic leukodystrophy in a Vietnamese family

Pediatric Neurology

Arbour, L.T. and Silver, K. and Hechtman, P. and Treacy, E.P. and Coulter-Mackie, M.B.

DOI: 10.1016/S0887-8994(00)00164-8

A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping

Journal of Inherited Metabolic Disease

Coulter-Mackie, M.B.

DOI: 10.1023/A:1005563004678

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.

Human mutation

Vallance, H.D. and Bernard, L. and Rashed, M. and Chiu, D. and Le, G. and Toone, J. and Applegarth, D.A. and Coulter-Mackie, M.

DOI: 10.1002/(SICI)1098-1004(1999)13:4u003C338::AID-HUMU15u003E3.0.CO;2-3

Two Novel Mutations in the Arylsulfatase A Gene Associated With Juvenile (R390Q) and Adult Onset (H397Y) Metachromatic Leukodystrophy

Human Mutation

Coulter-Mackie, M.B. and Gagnier, L.

DOI: 10.1002/humu.1380110181

A protocol for detection of mitochondrial DNA deletions: Characterization of a novel deletion

Clinical Biochemistry

Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J.R. and Gagnier, L.

DOI: 10.1016/S0009-9120(98)00074-5

Aspartylglucosaminuria in a Canadian family

Clinical and Investigative Medicine

Gordon, B.A. and Rupar, C.A. and Rip, J.W. and Haust, M.D. and Coulter-Mackie, M.B. and Scott, E. and Hinton, G.G.

Two new polymorphisms in the arylsulfatase a gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles

American Journal of Medical Genetics

Coulter-Mackie, M. and Gagnier, L.

DOI: 10.1002/(SICI)1096-8628(19971128)73:1u003C32::AID-AJMG7u003E3.0.CO;2-R

DNA-based diagnosis of arylsulfatase a deficiencies as a supplement to enzyme assay: A case in point

Clinical Biochemistry

Coulter-Mackie, M.B. and Applegarth, D.A. and Toone, J. and Vallance, H.

DOI: 10.1016/S0009-9120(96)00124-5

A five-basepair deletion (7118 delTTTTa) identified within neurofibromatosis (NF1) exon 39

Human Mutation

Rodenhiser, D.I. and Jung, J.H. and Gillett, J.M.R. and Hovland, K. and Andrews, J. and Ainsworth, P.J. and Coulter-Mackie, M. and Shingh, S.M.

DOI: 10.1002/(sici)1098-1004(1997)9:5u003C473::aid-humu15u003E3.3.co;2-h

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: A recurring mutation in the arylsulphatase A gene

Journal of Medical Genetics

Coulter-Mackie, M.B. and Gagnier, L. and Jill Beis, M. and Applegarth, D.A. and Cole, D.E.C. and Gordon, K. and Ludman, M.D.

DOI: 10.1136/jmg.34.6.493

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22

Journal of Medical Genetics

Coulter-Mackie, M.B. and Rip, J. and Ludman, M.D. and Beis, J. and Cole, D.E.C.

DOI: 10.1136/jmg.32.10.787

Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant [3]

American Journal of Human Genetics

Coulter-Mackie, M.B.

Single-base sequencing for rapid screening of plasmids for inserts with known mutations and correct orientation

BioTechniques

Coulter-Mackie, M.B.

A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.

Journal of Medical Genetics

D I Rodenhiser and P J Ainsworth and M B Coulter-Mackie and S M Singh and J H Jung

DOI: 10.1136/jmg.30.5.363

05 / 1993

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2

Human Molecular Genetics

Rodenhiser, D.I. and Coulter-mackie, M.B. and Singh, S.M.

DOI: 10.1093/hmg/2.4.439

A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II A PCR based approach to molecular and prenatal diagnosis using linkage

Journal of Medical Genetics

Rodenhiser, D.I. and Ainsworth, P.J. and Coulter-Mackie, M.B. and Singh, S.M. and Jung, J.H.

Purification and structure of human liver aspartylglucosaminidase

Biochemical Journal

Rip, J.W. and Coulter-Mackie, M.B. and Rupar, C.A. and Gordon, B.A.

DOI: 10.1042/bj2881005

A double mutation in exon 6 of the -hexosaminidase a subunit in a patient with the B1 variant of Tay-Sachs disease

American Journal of Human Genetics

Ainsworth, P.J. and Coulter-Mackie, M.B.

A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples

Human Genetics

Elliott, J. and Coulter-Mackie, M.B. and Jung, J.H. and Rodenhiser, D.I. and Singh, S.M.

DOI: 10.1007/BF00201551

Diagnostic single strand conformational polymorphism, (SSCP): A simplified non-radioisotopic method as applied to a tay-sachs B1 variant

Nucleic Acids Research

Ainsworth, P.J. and Surh, L.C. and Coulter-mackie, M.B.

DOI: 10.1093/nar/19.2.405

A genetic study of neurofibromatosis 1 in south-western Ontario. I Population, familial segregation of phenotype, and molecular linkage

Journal of Medical Genetics

Rodenhiser, D.I. and Coulter-Mackie, M.B. and Jung, J.H. and Singh, S.M.

DOI: 10.1136/jmg.28.11.746

In vivo and in vitro models of demyelinating diseases. XII. Persistence and expression of corona JHM vims functions in RN2-2 Schwannoma cells during latency

Virus Research

Coulter-Mackie, M. and Adler, R. and Wilson, G. and Dales, S.

DOI: 10.1016/0168-1702(85)90049-8

In vivo and in vitro models of demyelinating disease IX. Progression of JHM virus infection in the central nervous system of the rat during overt and asymptomatic phases

Virology

Sorensen, O. and Coulter-Mackie, M.B. and Puchalski, S. and Dales, S.

DOI: 10.1016/0042-6822(84)90227-7

In vivo and in vitro models of demyelinating diseases--VIII: Genetic, immunologic and cellular influences on JHM virus infection of rats.

Advances in experimental medicine and biology

Sorensen, O. and Beushausen, S. and Puchalski, S. and Cheley, S. and Anderson, R. and Coulter-Mackie, M. and Dales, S.

DOI: 10.1007/978-1-4615-9373-7_29

In vivo and in vitro models of demyelinating disease X. A Schwannoma-L-2 somatic cell hybrid persistently yielding high titres of mouse hepatitis virus strain JHM

Virus Research

Coulter-Mackie, M.B. and Flintoff, W.F. and Dales, S.

DOI: 10.1016/0168-1702(84)90005-4

Measles virus encephalitis and retinopathy in the Wistar rat

Experimental and Molecular Pathology

Percy, D.H. and Coulter-Mackie, M.

DOI: 10.1016/0014-4800(82)90072-7

In vivo and in vitro models of demyelinating diseases. V. Comparison of the assembly of mouse hepatitis virus, strain JHM, in two murine cell lines

Intervirology

Massalski, A. and Coulter-Mackie, M. and Knobler, R.L. and Buchmeier, M.J. and Dales, S.

DOI: 10.1159/000149316

In vivo and in vitro models of demyelinating diseases.

Advances in experimental medicine and biology

Sorensen, O. and Coulter-Mackie, M. and Percy, D. and Dales, S.

DOI: 10.1007/978-1-4757-0456-3_22

Assembly of Mouse Hepatitis Virus Strain JHM

Biochemistry and Biology of Coronaviruses

Andrew Massalski and Marion Coulter-Mackie and Samuel Dales

DOI: 10.1007/978-1-4757-0456-3_9

Assembly of mouse hepatitis virus strain JHM.

Advances in Experimental Medicine and Biology

Massalski, A. and Coulter-Mackie, M. and Dales, S.

In vivo and in vitro models of demyelinating diseases IV. Isolation of Hall measles virus-specific RNA from BGMK cells and preparation of complementary DNA

Virology

Coulter-Mackie, M.B. and Bradbury, W.C. and Dales, S. and Flintoff, W.F. and Morris, V.L.

DOI: 10.1016/0042-6822(80)90100-2

The noncoordinate expression of muscle-specific proteins in mutant rat skeletal myoblasts and reinitiation of differentiation in hybrids

Somatic Cell Genetics

Jackilynn Rogers and Marion Coulter and S. K. Ng and B. D. Sanwal

DOI: 10.1007/bf01542927

09 / 1978

In vivo and in vitro models of demyelinating diseases II. Persistence and host-regulated thermosensitivity in cells of neural derivation infected with mouse hepatitis and measles viruses

Virology

Alexandra Lucas and Marion Coulter and Robert Anderson and Samuel Dales and Wayne Flintoff

DOI: 10.1016/0042-6822(78)90289-1

07 / 1978

In vivo and in vitro models of demyelinating diseases: Tropism of the JHM strain of murine hepatitis virus for cells of glial origin

Cell

Lucas, A. and Flintoff, W. and Anderson, R. and Percy, D. and Coulter, M. and Dales, S.

DOI: 10.1016/0092-8674(77)90131-3

Apparent dominance of serine auxotrophy and the absence of expression of muscle-specific proteins in rat myoblast x mouse L-cell hybrids

Somatic Cell Genetics

M. J. P. Dufresne and Jackilynn Rogers and Marion B. Coulter and Eric Ball and Theodore Lo and B. D. Sanwal

DOI: 10.1007/bf01542689

11 / 1976

Inhibition of myogenesis in a rat myoblast line by 5-bromodeoxyuridine

Nature

JACKILYNN ROGERS and STEPHEN K. C. NG and MARION B. COULTER and B. D. SANWAL

DOI: 10.1038/256438a0

07 / 1975

In vitro synthesis and detection of deoxyribonucleic acids with covalently linked complementary sequences

Biochemistry

Marion Coulter and Wayne Flintoff and Verner Paetkau and David Pulleyblank and A. Richard Morgan

DOI: 10.1021/bi00705a008

04 / 1974

Enzymic synthesis of deoxyribonucleic acids with repeating sequences. New repeating trinucleotide deoxyribonucleic acid, d(T-C-C)nd(G-G-A)n

Biochemistry

A. Richard Morgan and Marion B. Coulter and Wayne F. Flintoff and Verner H. Paetkau

DOI: 10.1021/bi00705a007

04 / 1974

Thymine guanine base pairing during transcription of polydeoxypyrimidines in vitro

Journal of Molecular Biology

Verner Paetkau and Marion B. Coulter and Wayne F. Flintoff and A.Richard Morgan

DOI: 10.1016/0022-2836(72)90352-x

11 / 1972

Specific Projects

1. Primary hyperoxaluria type 1: This is a genetic disease caused by a deficiency of the peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), a PLP-requiring enzyme. In the most common form of PH1, AGT is active but is incorrectly targeted to the mitochondria, where it is physically separated from its substrate. In this form of PH1, supplementation with pyridoxine, precursor to PLP, is used effectively in the management of the disease. We have demonstrated that this is at least partly due to an altered Km for PLP in the mutant protein. For several other mutations we have demonstrated decreased protein turnover in the presence of PLP. We have also demonstrated effects on oligomerization and stability of selected mutant recombinant AGTs with several other small molecule stabilizers.

2. Metabolic epilepsies: PDE is caused by a deficiency of the enzyme antiquitin (ALDH7A1), an essential enzyme in the metabolism of lysine. Severe seizures are brought under control with pyridoxine supplementation. GAMT deficiency results in creatine deficiency and consequent seizures. Supplementation with creatine relieves seizures. We have developed recombinant genes for expression of both human antiquitin and human GAMT. We are initiating expression studies for normal and mutant enzymes using the approaches outlined above. Although metabolic supplementation in these diseases is effective in bringing seizures under control, there are frequently other long term consequences to these enzyme deficiencies. Therefore additional pharmacological therapeutic strategies are desirable.

Our Research

At BC Children’s, we are making discoveries that save lives and transform health care for children in our province and around the world. Our research portfolio includes basic, clinical, population, and public health research.

EXPLORE OUR RESEARCH

Marion Coulter-Mackie

PhD

Investigator Emerita, BC Children's Hospital

Academic Affiliations

Contact Information

Location

Publications

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SNP Variants in RET and PAX2 and Their Possible Contribution to the Primary Hyperoxaluria Type 1 Phenotype

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood

Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Variability of phenotype in two sisters with pyridoxine dependent epilepsy

Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy

Pyridoxine dependent epilepsy and antiquitin deficiency. Clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up

Hemiplegic migraine, seizures, progressive spastic paraparesis, mood disorder, and coma in siblings with low systemic serotonin

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene

Primary hyperoxaluria type 1: Update and additional mutation analysis of the AGXT gene

Partial trypsin digestion as an indicator of mis-folding of mutant alanine:glyoxylate aminotransferase and chaperone effects of specific ligands. Study of a spectrum of missense mutants

Mutation-based diagnostic testing for primary hyperoxaluria type 1: Survey of results

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification

4-Hydroxyproline metabolism and glyoxylate production: A target for substrate depletion in primary hyperoxaluria?

Consequences of missense mutations for dimerization and turnover of alanine:glyoxylate aminotransferase: Study of a spectrum of mutations

Overexpression of human alanine:glyoxylate aminotransferase in Escherichia coli: Renaturation from guanidine-HCl and affinity for pyridoxal phosphate co-factor

Preliminary evidence for ethnic differences in primary hyperoxaluria type 1 genotype

The major allele of the alanine:glyoxylate aminotransferase gene: Nine novel mutations and polymorphisms associated with primary hyperoxaluria type 1

Genetic heterogeneity in primary hyperoxaluria type 1: Impact on diagnosis

Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias

The major allele of the alanine:glyoxylate aminotransferase gene: Seven novel mutations causing primary hyperoxaluria type 1

Molecular genetic and potential biochemical characteristics of patients with T-protein deficiency as a cause of glycine encephalopathy (NKH)

Spectrum of mutations in the arylsulfatase A gene in a Canadian DNA collection including two novel frameshift mutations, a new missense mutation (C488R) and an MLD mutation (R84Q) in cis with a pseudodeficiency allele

The AGT gene in Africa: A distinctive minor allele haplotype, a polymorphism (V326I), and a novel PH1 mutation (A112D) in black Africans

Novel mutations in the P-protein (glycine decarboxylase) gene in patients with glycine encephalopathy (non-ketotic hyperglycinemia)

Molecular prenatal diagnosis of non-ketotic hyperglycinemia (glycine encephalopathy) [1]

Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: A recurrent mutation

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism

Three novel deletions in the alanine: Glyoxylate aminotransferase gene of three patients with type 1 hyperoxaluria

Multiple metachromatic leucodystrophy alleles in an unaffected subject: a case of dispermic chimaerism.

Identification of the first reported splice site mutation (IVS7-1G-->A) in the aminomethyltransferase (T-protein) gene (AMT) of the glycine cleavage complex in 3 unrelated families with nonketotic hyperglycinemia.

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)1

Biochemical and molecular investigations of patients with nonketotic hyperglycinemia

Variable onset of metachromatic leukodystrophy in a Vietnamese family

A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping

Identification of 6 new mutations in the iduronate sulfatase gene. Mutation in brief no. 233. Online.

Two Novel Mutations in the Arylsulfatase A Gene Associated With Juvenile (R390Q) and Adult Onset (H397Y) Metachromatic Leukodystrophy

A protocol for detection of mitochondrial DNA deletions: Characterization of a novel deletion

Aspartylglucosaminuria in a Canadian family

Two new polymorphisms in the arylsulfatase a gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles

DNA-based diagnosis of arylsulfatase a deficiencies as a supplement to enzyme assay: A case in point

A five-basepair deletion (7118 delTTTTa) identified within neurofibromatosis (NF1) exon 39

Metachromatic leucodystrophy in three families from Nova Scotia, Canada: A recurring mutation in the arylsulphatase A gene

Metachromatic leucodystrophy (MLD) in a patient with a constitutional ring chromosome 22

Molecular characterization of both alleles in an unusual Tay-Sachs disease B1 variant [3]

Single-base sequencing for rapid screening of plasmids for inserts with known mutations and correct orientation

A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II. A PCR based approach to molecular and prenatal diagnosis using linkage.

Evidence of DNA methylation in the neurofibromatosis type 1 (NF1) gene region of 17q11.2

A genetic study of neurofibromatosis type 1 (NF1) in south-western Ontario. II A PCR based approach to molecular and prenatal diagnosis using linkage

Purification and structure of human liver aspartylglucosaminidase

A double mutation in exon 6 of the -hexosaminidase a subunit in a patient with the B1 variant of Tay-Sachs disease

A method for transforming lymphocytes from very small blood volumes suitable for paediatric samples

Diagnostic single strand conformational polymorphism, (SSCP): A simplified non-radioisotopic method as applied to a tay-sachs B1 variant

A genetic study of neurofibromatosis 1 in south-western Ontario. I Population, familial segregation of phenotype, and molecular linkage

In vivo and in vitro models of demyelinating diseases. XII. Persistence and expression of corona JHM vims functions in RN2-2 Schwannoma cells during latency

In vivo and in vitro models of demyelinating disease IX. Progression of JHM virus infection in the central nervous system of the rat during overt and asymptomatic phases

In vivo and in vitro models of demyelinating diseases--VIII: Genetic, immunologic and cellular influences on JHM virus infection of rats.

In vivo and in vitro models of demyelinating disease X. A Schwannoma-L-2 somatic cell hybrid persistently yielding high titres of mouse hepatitis virus strain JHM

Measles virus encephalitis and retinopathy in the Wistar rat

In vivo and in vitro models of demyelinating diseases. V. Comparison of the assembly of mouse hepatitis virus, strain JHM, in two murine cell lines

In vivo and in vitro models of demyelinating diseases.

Assembly of Mouse Hepatitis Virus Strain JHM

Assembly of mouse hepatitis virus strain JHM.

In vivo and in vitro models of demyelinating diseases IV. Isolation of Hall measles virus-specific RNA from BGMK cells and preparation of complementary DNA

The noncoordinate expression of muscle-specific proteins in mutant rat skeletal myoblasts and reinitiation of differentiation in hybrids

In vivo and in vitro models of demyelinating diseases II. Persistence and host-regulated thermosensitivity in cells of neural derivation infected with mouse hepatitis and measles viruses

In vivo and in vitro models of demyelinating diseases: Tropism of the JHM strain of murine hepatitis virus for cells of glial origin

Apparent dominance of serine auxotrophy and the absence of expression of muscle-specific proteins in rat myoblast x mouse L-cell hybrids

Inhibition of myogenesis in a rat myoblast line by 5-bromodeoxyuridine

In vitro synthesis and detection of deoxyribonucleic acids with covalently linked complementary sequences

Enzymic synthesis of deoxyribonucleic acids with repeating sequences. New repeating trinucleotide deoxyribonucleic acid, d(T-C-C)nd(G-G-A)n

Recurrent mutations in P- and T-proteins of the glycine cleavage complex and a novel T-protein mutation (N145I): A strategy for the molecular investigation of patients with nonketotic hyperglycinemia (NKH)¹