Mahmoud Pouladi

MSc, PhD

Investigator, BC Children's Hospital

Brain disorders are among the most significant health problems of modern day with enormous medical, social and economic burdens in British Columbia, Canada and globally. There is a substantial gap between the burden of brain disorders and the resources available to treat them. Neurodevelopmental disorders are particularly devastating, placing a heavy emotional and economic burden on children and their families. A major challenge in tackling these disorders is the inability to obtain and study brain cells directly. New technologies which allow stem cells to be transformed into brain cells are starting to help overcome this hurdle.

By studying brain cells derived from human stem cells, Dr. Pouladi aims to 1) understand how brain disorders develop and 2) to identify new ways to treat them. A major focus of his studies are monogenic neurological disorders and in particular fragile X syndrome (FXS), the most common inherited form of intellectual disability.

Academic Affiliations

  • Associate Professor, , Department of Medical Genetics, Faculty of Medicine, University of British Columbia
  • Research Theme: Childhood Diseases
  • Research Group(s): Neurodevelopmental and Neurological Disorders; Rare Diseases

Contact Information

Location

950 West 28th Avenue, Vancouver, British Columbia, Canada, V5Z 4H4

TSC2 GAP Domain V1646Cfs*7 Variant Alters Protein Stability and Interaction Networks in Tuberous Sclerosis Complex

Neurology Genetics

Kagistia Hana Utami and Velda X. Han and Nur Amirah Bte Mohammad Yusof and Yazhini Ramaswamy and Jia Feng and Stacey Kiat Hong Tay and Sarah R. Langley and Mahmoud A. Pouladi

DOI: 10.1212/NXG.0000000000200351

04 / 2026

The role of oligodendroglial dysfunction in Huntington's disease

Journal of Huntington's Disease

Xinhui Li and Shihua Li and Xiao-Jiang Li and Huu Phuc Nguyen and Asa Petersen and Mahmoud A Pouladi

DOI: 10.1177/18796397251358017

08 / 2025

Special issue: Glia and non-neuronal cells in Huntington's disease

Journal of Huntington's Disease

Mahmoud A Pouladi and Asa Petersen

DOI: 10.1177/18796397251358289

08 / 2025

Oligodendroglia and myelin pathology in fragile X syndrome

Journal of Neurochemistry

Shaima Hourani and Mahmoud A. Pouladi

DOI: 10.1111/jnc.16144

09 / 2024

Environmental Deprivation Effects on Myelin Ultrastructure in Huntington Disease and Wildtype Mice

Molecular Neurobiology

Carola I. Radulescu and Costanza Ferrari Bardile and Marta Garcia-Miralles and Harwin Sidik and Nur Amirah Binte Mohammad Yusof and Mahmoud A. Pouladi

DOI: 10.1007/s12035-023-03799-6

07 / 2024

CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress

Cell Death & Disease

Xuanzhuo Liu and Fang Wang and Xinman Fan and Mingyi Chen and Xiaoxin Xu and Qiuhong Xu and Huili Zhu and Anding Xu and Mahmoud A. Pouladi and Xiaohong Xu

DOI: 10.1038/s41419-024-06523-x

02 / 2024

Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22)

Stem Cell Research

Oguz K. Ozgoren and Glen Lester Sequiera and Costanza Ferrari Bardile and Sophia C. Gjervan and Areesha Salman and Anna Lehman and Stuart E. Turvey and Colin J.D. Ross and Sylvia Stockler and Mahmoud A. Pouladi

DOI: 10.1016/j.scr.2023.103174

09 / 2023

Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntingtons disease

Vincent Tano and Kagistia Hana Utami and Nur Amirah Binte Mohammad Yusof and Mahmoud A Pouladi and Sarah R Langley

DOI: 10.1101/2022.11.30.518612

12 / 2022

Abnormal Spinal Cord Myelination due to Oligodendrocyte Dysfunction in a Model of Huntingtons Disease

Journal of Huntington's Disease

Costanza Ferrari Bardile and Harwin Sidik and Reynard Quek and Nur Amirah Binte Mohammad Yusof and Marta Garcia-Miralles and Mahmoud A. Pouladi

DOI: 10.3233/jhd-210495

09 / 2021

Urokinase plasminogen activator mediates changes in human astrocytes modeling fragile X syndrome.

Glia

DOI: 10.1002/glia.24080 PubMed: 34427356

08 / 2021

Early white matter pathology in the fornix of the limbic system in Huntington disease.

Acta neuropathologica

DOI: 10.1007/s00401-021-02362-8 PubMed: 34448021

08 / 2021

Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity

Fanny L. Lemari and Nicholas S. Caron and Shaun S. Sanders and Mandi E. Schmidt and Yen T.N. Nguyen and Seunghyun Ko and Xiaohong Xu and Mahmoud A. Pouladi and Dale D.O. Martin and Michael R. Hayden

DOI: 10.1101/2021.03.26.437210

03 / 2021

Pluripotent stem cell-derived models of neurological diseases reveal early transcriptional heterogeneity.

Genome biology

DOI: 10.1186/s13059-021-02301-6 PubMed: 33663567

03 / 2021

Generation of the Human Pluripotent Stem-Cell-Derived Astrocyte Model with Forebrain Identity.

Brain sciences

DOI: 10.3390/brainsci11020209 PubMed: 33572154

02 / 2021

Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment

Molecular Autism

Kagistia Hana Utami and Nur Amirah Binte Mohammad Yusof and Jing Eugene Kwa and Ulla-Kaisa Peteri and Maija L. Castrn and Mahmoud A. Pouladi

DOI: 10.1186/s13229-020-00350-5

12 / 2020

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Nature Communications

Holger Hengel and C{\'{e}}lia Bosso-Lef{\`{e}}vre and George Grady and Emmanuelle Szenker-Ravi and Hankun Li and Sarah Pierce and {\'{E}}lise Lebigot and Thong-Teck Tan and Michelle Y. Eio and Gunaseelan Narayanan and Kagistia Hana Utami and Monica Yau and Nader Handal and Werner Deigendesch and Reinhard Keimer and Hiyam M. Marzouqa and Meral Gunay-Aygun and Michael J. Muriello and Helene Verhelst and Sarah Weckhuysen and Sonal Mahida and Sakkubai Naidu and Terrence G. Thomas and Jiin Ying Lim and Ee Shien Tan and Damien Haye and Mich{\`{e}}l A. A. P. Willemsen and Renske Oegema and Wendy G. Mitchell and Tyler Mark Pierson and Marisa V. Andrews and Marcia C. Willing and Lance H. Rodan and Tahsin Stefan Barakat and Marjon van Slegtenhorst and Ralitza H. Gavrilova and Diego Martinelli and Tal Gilboa and Abdullah M. Tamim and Mais O. Hashem and Moeenaldeen D. AlSayed and Maha M. Abdulrahim and Mohammed Al-Owain and Ali Awaji and Adel A. H. Mahmoud and Eissa A. Faqeih and Ali Al Asmari and Sulwan M. Algain and Lamyaa A. Jad and Hesham M. Aldhalaan and Ingo Helbig and David A. Koolen and Angelika Riess and Ingeborg Kraegeloh-Mann and Peter Bauer and Suleyman Gulsuner and Hannah Stamberger and Alvin Yu Jin Ng and Sha Tang and Sumanty Tohari and Boris Keren and Laura E. Schultz-Rogers and Eric W. Klee and Sabina Barresi and Marco Tartaglia and Hagar Mor-Shaked and Sateesh Maddirevula and Amber Begtrup and Aida Telegrafi and Rolph Pfundt and Rebecca Schle and Brian Ciruna and Carine Bonnard and Mahmoud A. Pouladi and James C. Stewart and Adam Claridge-Chang and Dirk J. Lefeber and Fowzan S. Alkuraya and Ajay S. Mathuru and Byrappa Venkatesh and Joseph J. Barycki and Melanie A. Simpson and Saumya S. Jamuar and Ludger Schls and Bruno Reversade

DOI: 10.1038/s41467-020-14360-7

12 / 2020

Compromised IGF signaling causes caspase-6 activation in Huntington disease

Experimental Neurology

Niels Henning Skotte and Mahmoud A. Pouladi and Dagmar E. Ehrnhoefer and Katie Huynh and Xiaofan Qiu and Signe Marie Borch Nielsen and Troels Tolstrup Nielsen and Anne N{\o}rrem{\o}lle and Michael R. Hayden

DOI: 10.1016/j.expneurol.2020.113396

10 / 2020

Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease

Human Molecular Genetics

Galen E B Wright and Nicholas S Caron and Bernard Ng and Lorenzo Casal and William Casazza and Xiaohong Xu and Jolene Ooi and Mahmoud A Pouladi and Sara Mostafavi and Colin J D Ross and Michael R Hayden

DOI: 10.1093/hmg/ddaa184

09 / 2020

pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model

Cell Death & Disease

Xiaohong Xu and Bryan Ng and Bernice Sim and Carola I. Radulescu and Nur Amirah Binte Mohammad Yusof and Wah Ing Goh and Shuping Lin and John Soon Yew Lim and Yoonjeong Cha and Rebecca Kusko and Chris Kay and Tamara Ratovitski and Christopher Ross and Michael R. Hayden and Graham Wright and Mahmoud A. Pouladi

DOI: 10.1038/s41419-020-02983-z

09 / 2020

Early deficits in olfaction are associated with structural and molecular alterations in the olfactory system of a Huntington disease mouse model

Human Molecular Genetics

M Laroche and M Lessard-Beaudoin and M Garcia-Miralles and C Kreidy and E Peachey and B R Leavitt and M A Pouladi and R K Graham

DOI: 10.1093/hmg/ddaa099

08 / 2020

Integrative Analysis Identifies Key Molecular Signatures Underlying Neurodevelopmental Deficits in Fragile X Syndrome

Biological Psychiatry

DOI: 10.1016/j.biopsych.2020.05.005

05 / 2020

Impaired Remyelination in a Mouse Model of Huntington Disease

Molecular Neurobiology

Roy Tang Yi Teo and Costanza Ferrari Bardile and Yi Lin Tay and Nur Amirah Binte Mohammad Yusof and Charbel A. Kreidy and Liang Juin Tan and Mahmoud A. Pouladi

DOI: 10.1007/s12035-019-1579-1

10 / 2019

Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2

Stem Cell Research

Ruizhu Zeng and Harwin Sidik and Kim S. Robinson and Franklin L. Zhong and Bruno Reversade and Mahmoud A. Pouladi

DOI: 10.1016/j.scr.2019.101533

10 / 2019

Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features

Neurology Genetics

Amin Ziaei and Xiaohong Xu and Leila Dehghani and Carine Bonnard and Andreas Zellner and Alvin Yu Jin Ng and Sumanty Tohari and Byrappa Venkatesh and Christof Haffner and Bruno Reversade and Vahid Shaygannejad and Mahmoud A. Pouladi

DOI: 10.1212/nxg.0000000000000345

08 / 2019

Laquinimod Treatment Improves Myelination Deficits at the Transcriptional and Ultrastructural Levels in the YAC128 Mouse Model of Huntington Disease

Molecular Neurobiology

Marta Garcia-Miralles and Nur Amirah Binte Mohammad Yusof and Jing Ying Tan and Carola I. Radulescu and Harwin Sidik and Liang Juin Tan and Haim Belinson and Neta Zach and Michael R. Hayden and Mahmoud A. Pouladi

DOI: 10.1007/s12035-018-1393-1

06 / 2019

Intrinsic mutant HTT-mediated defects in oligodendroglia cause myelination deficits and behavioral abnormalities in Huntington disease

Proceedings of the National Academy of Sciences

Costanza Ferrari Bardile and Marta Garcia-Miralles and Nicholas S. Caron and Nirmala Arul Rayan and Sarah R. Langley and Nathan Harmston and Ana Maria Rondelli and Roy Tang Yi Teo and Sabine Waltl and Lisa M. Anderson and Han-Gyu Bae and Sangyong Jung and Anna Williams and Shyam Prabhakar and Enrico Petretto and Michael R. Hayden and Mahmoud A. Pouladi

DOI: 10.1073/pnas.1818042116

05 / 2019

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.

The New England journal of medicine

DOI: 10.1056/nejmoa1806627 PubMed: 30970188

04 / 2019

Huntingtin confers fitness but is not embryonically essential in zebrafish development

Harwin Sidik and Christy J. Ang and Mahmoud A. Pouladi

DOI: 10.1101/615591

04 / 2019

A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability.

eLife

Chia PH and Zhong FL and Niwa S and Bonnard C and Utami KH and Zeng R and Lee H and Eskin A and Nelson SF and Xie WH and Al-Tawalbeh S and El-Khateeb M and Shboul M and Pouladi MA and Reversade B

DOI: 10.7554/elife.32451 PubMed: 29784083

05 / 2018

Large-scale transcriptomic analysis reveals that pridopidine reverses aberrant gene expression and activates neuroprotective pathways in the YAC128 HD mouse.

Molecular neurodegeneration

Kusko R and Dreymann J and Ross J and Cha Y and Escalante-Chong R and Garcia-Miralles M and Tan LJ and Burczynski ME and Zeskind B and Laifenfeld D and Pouladi M and Geva M and Hayden MR

DOI: 10.1186/s13024-018-0259-3 PubMed: 29783994

05 / 2018

Early pridopidine treatment improves behavioral and transcriptional deficits in YAC128 Huntington disease mice.

JCI insight

Garcia-Miralles M and Geva M and Tan JY and Yusof NABM and Cha Y and Kusko R and Tan LJ and Xu X and Grossman I and Orbach A and Hayden MR and Pouladi MA

DOI: 10.1172/jci.insight.95665 PubMed: 29212949

12 / 2017

A thiol probe for measuring unfolded protein load and proteostasis in cells.

Nature communications

Chen MZ and Moily NS and Bridgford JL and Wood RJ and Radwan M and Smith TA and Song Z and Tang BZ and Tilley L and Xu X and Reid GE and Pouladi MA and Hong Y and Hatters DM

DOI: 10.1038/s41467-017-00203-5 PubMed: 28883394

09 / 2017

Induced-Pluripotent-Stem-Cell-Derived Primitive Macrophages Provide a Platform for Modeling Tissue-Resident Macrophage Differentiation and Function.

Immunity

DOI: 10.1016/j.immuni.2017.06.017 PubMed: 28723550

07 / 2017

Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent StemCells.

Xu X and Tay Y and Sim B and Yoon SI and Huang Y and Ooi J and Utami KH and Ziaei A and Ng B and Radulescu C and Low D and Ng AY and Loh M and Venkatesh B and Ginhoux F and Augustine GJ and Pouladi MA

PubMed: 28238795

02 / 2017

Narciclasine attenuates diet-induced obesity by promoting oxidative metabolism in skeletal muscle.

Julien SG and Kim SY and Brunmeir R and Sinnakannu JR and Ge X and Li H and Ma W and Yaligar J and Kn BP and Velan SS and Rder PV and Zhang Q and Sim CK and Wu J and Garcia-Miralles M and Pouladi MA and Xie W and McFarlane C and Han W and Xu F

DOI: 10.1371/journal.pbio.1002597 PubMed: 28207742

02 / 2017

A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles.

Southwell AL and Skotte NH and Villanueva EB and stergaard ME and Gu X and Kordasiewicz HB and Kay C and Cheung D and Xie Y and Waltl S and Dal Cengio L and Findlay-Black H and Doty CN and Petoukhov E and Iworima D and Slama R and Ooi J and Pouladi MA and Yang WX and Swayze EE

DOI: 10.1093/hmg/ddx021 PubMed: 28104789

01 / 2017

Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease.

Teo RT and Hong X and Yu-Taeger L and Huang Y and Tan LJ and Xie Y and To XV and Guo L and Rajendran R and Novati A and Calaminus C and Riess O and Hayden MR and Nguyen HP and Chuang KH and Pouladi MA

PubMed: 27126634

07 / 2016

Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD

Hum. Mol. Genet.

Sean-Patrick Riechers and Stefanie Butland and Yu Deng and Niels Skotte and Dagmar E. Ehrnhoefer and Jenny Russ and Jean Laine and Melissa Laroche and Mahmoud A. Pouladi and Erich E. Wanker and Michael R. Hayden and Rona K. Graham

DOI: 10.1093/hmg/ddw036

02 / 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

01 / 2016

Laquinimod rescues striatal, cortical and white matter pathology and results in modest behavioural improvements in the YAC128 model of Huntington disease.

Garcia-Miralles M and Hong X and Tan LJ and Caron NS and Huang Y and To XV and Lin RY and Franciosi S and Papapetropoulos S and Hayardeny L and Hayden MR and Chuang KH and Pouladi MA

DOI: 10.1038/srep31652 PubMed: 27528441

Histone modifications and p53 binding poise the p21 promoter for activation in human embryonic stem cells.

Itahana Y and Zhang J and Gke J and Vardy LA and Han R and Iwamoto K and Cukuroglu E and Robson P and Pouladi MA and Colman A and Itahana K

DOI: 10.1038/srep28112 PubMed: 27346849

Modeling Doxorubicin-Induced Cardiotoxicity in Human Pluripotent Stem Cell Derived-Cardiomyocytes.

Maillet A and Tan K and Chai X and Sadananda SN and Mehta A and Ooi J and Hayden MR and Pouladi MA and Ghosh S and Shim W and Brunham LR

DOI: 10.1038/srep25333 PubMed: 27142468

Anti-semaphorin 4D immunotherapy ameliorates neuropathology and some cognitive impairment in the YAC128 mouse model of Huntington disease

Southwell, A.L. and Franciosi, S. and Villanueva, E.B. and Xie, Y. and Winter, L.A. and Veeraraghavan, J. and Jonason, A. and Felczak, B. and Zhang, W. and Kovalik, V. and Waltl, S. and Hall, G. and Pouladi, M.A. and Smith, E.S. and Bowers, W.J. and Zauderer, M. and Hayden, M.R.

DOI: 10.1016/j.nbd.2015.01.002

Partial rescue of some features of Huntington Disease in the genetic absence of caspase-6 in YAC128 mice

Wong, B.K.Y. and Ehrnhoefer, D.E. and Graham, R.K. and Martin, D.D.O. and Ladha, S. and Uribe, V. and Stanek, L.M. and Franciosi, S. and Qiu, X. and Deng, Y. and Kovalik, V. and Zhang, W. and Pouladi, M.A. and Shihabuddin, L.S. and Hayden, M.R.

DOI: 10.1016/j.nbd.2014.12.030

Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease

Ooi, J. and Hayden, M.R. and Pouladi, M.A.

DOI: 10.1007/s12035-014-8974-4

Preclinical models: Needed in translation? A Pro/Con debate

Philips, T. and Rothstein, J.D. and Pouladi, M.A.

DOI: 10.1002/mds.26010

A fully humanized transgenic mouse model of Huntington disease

Southwell, A.L. and Warby, S.C. and Carroll, J.B. and Doty, C.N. and Skotte, N.H. and Zhang, W. and Villanueva, E.B. and Kovalik, V. and Xie, Y. and Pouladi, M.A. and Collins, J.A. and Yang, X.W. and Franciosi, S. and Hayden, M.R.

DOI: 10.1093/hmg/dds397

Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models

Marco, S. and Giralt, A. and Petrovic, M.M. and Pouladi, M.A. and Martnez-Turrillas, R. and Martnez-Hernndez, J. and Kaltenbach, L.S. and Torres-Peraza, J. and Graham, R.K. and Watanabe, M. and Lujn, R. and Nakanishi, N. and Lipton, S.A. and Lo, D.C. and Hayden, M.R. and Alberch, J. and Wesseling, J.F. and Prez-Otao, I.

DOI: 10.1038/nm.3246

Choosing an animal model for the study of Huntington's disease

Pouladi, M.A. and Morton, A.J. and Hayden, M.R.

DOI: 10.1038/nrn3570

PS: Pain and sodium channels

Clin Genet

RTY Teo and MA Pouladi

DOI: 10.1111/j.1399-0004.2012.01945.x

08 / 2012

Painful gains: missense mutations inSCN9A and idiopathic small nerve fibre neuropathy

Clin Genet

MA Pouladi

DOI: 10.1111/j.1399-0004.2012.01944.x

08 / 2012

Heritability of pain sensitivity andopioid analgesia

Clin Genet

YH Huang and MA Pouladi

DOI: 10.1111/j.1399-0004.2012.01946.x

08 / 2012

Polyglutamine diseases and the risk of cancer

The Lancet Oncology

Mahmoud A Pouladi and Michael R Hayden

DOI: 10.1016/s1470-2045(12)70167-5

06 / 2012

Caspase-6-Resistant Mutant Huntingtin Does not Rescue the Toxic Effects of Caspase-Cleavable Mutant Huntingtin in vivo.

Journal of Huntington's disease

Graham RK and Deng Y and Pouladi MA and Vaid K and Ehrnhoefer D and Southwell AL and Bissada N and Franciosi S and Hayden MR

DOI: 10.3233/jhd-120038 PubMed: 25063333

Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice

Uribe, V. and Wong, B.K.Y. and Graham, R.K. and Cusack, C.L. and Skotte, N.H. and Pouladi, M.A. and Xie, Y. and Feinberg, K. and Ou, Y. and Ouyang, Y. and Deng, Y. and Franciosi, S. and Bissada, N. and Spreeuw, A. and Zhang, W. and Ehrnhoefer, D.E. and Vaid, K. and Miller, F.D. and Deshmukh, M. and Howland, D. and Hayden, M.R.

DOI: 10.1093/hmg/dds005

Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice

Pouladi, M.A. and Stanek, L.M. and Xie, Y. and Franciosi, S. and Southwell, A.L. and Deng, Y. and Butland, S. and Zhang, W. and Cheng, S.H. and Shihabuddin, L.S. and Hayden, M.R.

DOI: 10.1093/hmg/dds037

Fragile X syndrome therapy: to respond or not to respond may be a matter of methylation

Clinical Genetics

MA Pouladi

DOI: 10.1111/j.1399-0004.2011.01663.x

04 / 2011

Cleavage at the 586 Amino Acid Caspase-6 Site in Mutant huntingtin Influences Caspase-6 Activation In Vivo

Journal of Neuroscience

R. K. Graham and Y. Deng and J. Carroll and K. Vaid and C. Cowan and M. A. Pouladi and M. Metzler and N. Bissada and L. Wang and R. L. M. Faull and M. Gray and X. W. Yang and L. A. Raymond and M. R. Hayden

DOI: 10.1523/jneurosci.2071-10.2010

11 / 2010

Cholesterol Defect Is Marked across Multiple Rodent Models of Huntington's Disease and Is Manifest in Astrocytes

Journal of Neuroscience

M. Valenza and V. Leoni and J. M. Karasinska and L. Petricca and J. Fan and J. Carroll and M. A. Pouladi and E. Fossale and H. P. Nguyen and O. Riess and M. MacDonald and C. Wellington and S. DiDonato and M. Hayden and E. Cattaneo

DOI: 10.1523/jneurosci.0917-10.2010

08 / 2010

Taking a SUMO off a TRP for bad conduct

Clinical Genetics

MA Pouladi

DOI: 10.1111/j.1399-0004.2009.01366_2.x

04 / 2010

Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis

Becanovic, K. and Pouladi, M.A. and Lim, R.S. and Kuhn, A. and Pavlidis, P. and Luthi-Carter, R. and Hayden, M.R. and Leavitt, B.R.

DOI: 10.1093/hmg/ddq018

Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression

Pouladi, M.A. and Xie, Y. and Skotte, N.H. and Ehrnhoefer, D.E. and Graham, R.K. and Kim, J.E. and Bissada, N. and Yang, X.W. and Paganetti, P. and Friedlander, R.M. and Leavitt, B.R. and Hayden, M.R.

DOI: 10.1093/hmg/ddq026

Differential Susceptibility to Excitotoxic Stress in YAC128 Mouse Models of Huntington Disease between Initiation and Progression of Disease

Journal of Neuroscience

R. K. Graham and M. A. Pouladi and P. Joshi and G. Lu and Y. Deng and N.-P. Wu and B. E. Figueroa and M. Metzler and V. M. Andre and E. J. Slow and L. Raymond and R. Friedlander and M. S. Levine and B. R. Leavitt and M. R. Hayden

DOI: 10.1523/jneurosci.5473-08.2009

02 / 2009

Mouse models of Huntington disease: Variations on a theme

Ehrnhoefer, D.E. and Butland, S.L. and Pouladi, M.A. and Hayden, M.R.

DOI: 10.1242/dmm.002451

Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin

Pouladi, M.A. and Graham, R.K. and Karasinska, J.M. and Xie, Y. and Santos, R.D. and Petersn, . and Hayden, M.R.

DOI: 10.1093/brain/awp006

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

Bjrkqvist, M. and Wild, E.J. and Thiele, J. and Silvestroni, A. and Andre, R. and Lahiri, N. and Raibon, E. and Lee, R.V. and Benn, C.L. and Soulet, D. and Magnusson, A. and Woodman, B. and Landles, C. and Pouladi, M.A. and Hayden, M.R. and Khalili-Shirazi, A. and Lowdell, M.W. and Brundin, P. and Bates, G.P. and Leavitt, B.R. and Mller, T. and Tabrizi, S.J.

DOI: 10.1084/jem.20080178

Despite Antiatherogenic Metabolic Characteristics, SCD1-Deficient Mice Have Increased Inflammation and Atherosclerosis

Arteriosclerosis, Thrombosis, and Vascular Biology

M. L.E. MacDonald and M. van Eck and R. B. Hildebrand and B. W.C. Wong and N. Bissada and P. Ruddle and A. Kontush and H. Hussein and M. A. Pouladi and M. J. Chapman and C. Fievet and T. J.C. van Berkel and B. Staels and B. M. McManus and M. R. Hayden

DOI: 10.1161/atvbaha.108.181099

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

Kuhn, A. and Goldstein, D.R. and Hodges, A. and Strand, A.D. and Sengstag, T. and Kooperberg, C. and Becanovic, K. and Pouladi, M.A. and Sathasivam, K. and Cha, J.-H.J. and Hannan, A.J. and Hayden, M.R. and Leavitt, B.R. and Dunnett, S.B. and Ferrante, R.J. and Albin, R. and Shelbourne, P. and Delorenzi, M. and Augood, S.J. and Faull, R.L.M. and Olson, J.M. and Bates, G.P. and Jones, L. and Luthi-Carter, R.

DOI: 10.1093/hmg/ddm133

Jewels in the rough - the study of non-coding genomic sequences as a conduit to understanding human disease

Clinical Genetics

MA Pouladi

DOI: 10.1111/j.1399-0004.2006.0570a.x

01 / 2006

House Dust Mite Facilitates Ovalbumin-specific Allergic Sensitization and Airway Inflammation

Am J Respir Crit Care Med

Ramzi Fattouh and Mahmoud A. Pouladi and David Alvarez and Jill R. Johnson and Tina D. Walker and Susanna Goncharova and Mark D. Inman and Manel Jordana

DOI: 10.1164/rccm.200502-198oc

08 / 2005

Mainstream Cigarette Smoke Exposure Attenuates Airway Immune Inflammatory Responses to Surrogate and Common Environmental Allergens in Mice, Despite Evidence of Increased Systemic Sensitization

The Journal of Immunology

C. S. Robbins and M. A. Pouladi and R. Fattouh and D. E. Dawe and N. Vujicic and C. D. Richards and M. Jordana and M. D. Inman and M. R. Stampfli

DOI: 10.4049/jimmunol.175.5.2834

08 / 2005

Juvenile myoclonic epilepsy, calcium and the EF hand of death

Clinical Genetics

MA Pouladi

DOI: 10.1111/j.1399-0004.2005.00421.x

02 / 2005

A link between ALOX5AP and myocardial infarction and stroke

Clinical Genetics

MA Pouladi

DOI: 10.1111/j.0009-9163.2004.00281b.x

06 / 2004

Cigarette Smoke Decreases Pulmonary Dendritic Cells and Impacts Antiviral Immune Responsiveness

Am J Respir Cell Mol Biol

Clinton S. Robbins and David E. Dawe and Susanna I. Goncharova and Mahmoud A. Pouladi and Anna G. Drannik and Filip K. Swirski and Gerard Cox and Martin R. Stmpfli

DOI: 10.1165/rcmb.2003-0259oc

02 / 2004

Interleukin-13"Dependent Expression of Matrix Metalloproteinase-12 Is Required for the Development of Airway Eosinophilia in Mice

Am J Respir Cell Mol Biol

Mahmoud A. Pouladi and Clinton S. Robbins and Filip K. Swirski and Meghan Cundall and Andrew N.J. McKenzie and Manel Jordana and Steven D. Shapiro and Martin R. Stmpfli

DOI: 10.1165/rcmb.2003-0051oc

01 / 2004

Impact of cigarette smoke on clearance and inflammation after Pseudomonas aeruginosa infection

Drannik, A.G. and Pouladi, M.A. and Robbins, C.S. and Goncharova, S.I. and Kianpour, S. and Stmpfli, M.R.

DOI: 10.1164/rccm.200311-1521OC

Inhibition of phosphatidylinositol-4-phosphate 5-kinase Ia impairs localized actin remodeling and suppresses phagocytosis

Coppolino, M.G. and Dierckman, R. and Loijens, J. and Collins, R.F. and Pouladi, M. and Jongstra-Bilen, J. and Schreiber, A.D. and Trimble, W.S. and Anderson, R. and Grinstein, S.

DOI: 10.1074/jbc.M209046200

Molecular Pathogenesis of Huntington's Disease

DOI: 10.1016/B978-012369462-1/50016-8

Concomitant airway expression of granulocyte-macrophage colony-stimulating factor and decorin, a natural inhibitor of transforming growth factor-, breaks established inhalation tolerance

DOI: 10.1002/eji.200425012

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice

DOI: 10.1016/j.neuron.2010.01.008

Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease

DOI: 10.1016/j.nbd.2010.09.012

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity

DOI: 10.1038/nm.2313

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin

DOI: 10.1038/nm.2056

NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease

DOI: 10.1016/j.nbd.2012.06.026

Developing novel approaches for neurological disorders

The overall objective of my research is to leverage the power of genetics to define disease pathways and processes with the goal of developing novel approaches of therapeutic relevance for neurological disorders. Over the past 4 years, my research efforts have focused on exploiting genome engineering technologies to develop human pluripotent stem cell (hPSC) models of
neurological disorders, and in particular Huntington disease (HD) and fragile X syndrome (FXS). HD and FXS are monogenic triplet repeat disorders representing the most common genetic forms of dementia and intellectual disability, respectively. My research program over the next 5 years will focus on using emergent stem cell and genomic technologies to advance therapeutic opportunities for FXS. Many advantages are afforded by hPSC models, the primary two being the ability to a) study disease processes in the context of human physiology, and b) derived neural cell types of interest. I intend to use our hPSC models to pursue two fundamental questions: 1) what are the key cellular pathways and processes altered in disease, and 2) which of these alterations are pathogenically important and druggable with potential to improve clinical outcomes.

Related News

Every day, our researchers work towards breakthroughs to transform the lives of kids in BC and around the world. Learn about our latest innovations and advancements in child health.

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

Stay in the Know

Sign up for compelling stories about innovative science, the doctors and researchers who turn ideas into discoveries and treatments, and the kids and families whose lives are changed.

This field is for validation purposes and should be left unchanged.