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.


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

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

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

Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington’s 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

Abnormal Spinal Cord Myelination due to Oligodendrocyte Dysfunction in a Model of Huntington’s 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

Urokinase plasminogen activator mediates changes in human astrocytes modeling fragile X syndrome.
DOI: 10.1002/glia.24080
PubMed: 34427356

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

Pluripotent stem cell-derived models of neurological diseases reveal early transcriptional heterogeneity.
Genome biology
DOI: 10.1186/s13059-021-02301-6
PubMed: 33663567

Rescue of aberrant huntingtin palmitoylation ameliorates mutant huntingtin-induced toxicity
Fanny L. Lemarié 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

Generation of the Human Pluripotent Stem-Cell-Derived Astrocyte Model with Forebrain Identity.
Brain sciences
DOI: 10.3390/brainsci11020209
PubMed: 33572154

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. Castrén and Mahmoud A. Pouladi
DOI: 10.1186/s13229-020-00350-5

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 Schüle 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 Schöls and Bruno Reversade
DOI: 10.1038/s41467-020-14360-7

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

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

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

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

Integrative Analysis Identifies Key Molecular Signatures Underlying Neurodevelopmental Deficits in Fragile X Syndrome
Biological Psychiatry
DOI: 10.1016/j.biopsych.2020.05.005

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

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

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

Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease
Galen E.B. Wright and Nicholas S. Caron and Bernard Ng and Lorenzo Casal and Xiaohong Xu and Jolene Ooi and Mahmoud A. Pouladi and Sara Mostafavi and Colin J.D. Ross and Michael R. Hayden
DOI: 10.1101/699033

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

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

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

Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
The New England journal of medicine
DOI: 10.1056/nejmoa1806627
PubMed: 30970188

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

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

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

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

Induced-Pluripotent-Stem-Cell-Derived Primitive Macrophages Provide a Platform for Modeling Tissue-Resident Macrophage Differentiation and Function.
DOI: 10.1016/j.immuni.2017.06.017
PubMed: 28723550

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 Röder 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

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

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 Østergaard 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

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

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

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

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

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

Histone modifications and p53 binding poise the p21 promoter for activation in human embryonic stem cells.
Itahana Y and Zhang J and Göke 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

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

Choosing an animal model for the study of Huntington's disease
Pouladi, Mahmoud A. and Morton, A. Jennifer and Hayden, Michael R.
DOI: 10.1038/nrn3570

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 Martínez-Turrillas, R. and Martínez-Hernández, J. and Kaltenbach, L.S. and Torres-Peraza, J. and Graham, R.K. and Watanabe, M. and Luján, R. and Nakanishi, N. and Lipton, S.A. and Lo, D.C. and Hayden, M.R. and Alberch, J. and Wesseling, J.F. and Pérez-Otaño, I.
DOI: 10.1038/nm.3246

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

PS: Pain and sodium channels
Clin Genet
RTY Teo and MA Pouladi
DOI: 10.1111/j.1399-0004.2012.01945.x

Painful gains: missense mutations in SCN9A and idiopathic small nerve fibre neuropathy
Clin Genet
MA Pouladi
DOI: 10.1111/j.1399-0004.2012.01944.x

Heritability of pain sensitivity and opioid analgesia
Clin Genet
YH Huang and MA Pouladi
DOI: 10.1111/j.1399-0004.2012.01946.x

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

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

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

NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease
Pouladi, M.A. and Brillaud, E. and Xie, Y. and Conforti, P. and Graham, R.K. and Ehrnhoefer, D.E. and Franciosi, S. and Zhang, W. and Poucheret, P. and Compte, E. and Maurel, J.-C. and Zuccato, C. and Cattaneo, E. and Néri, C. and Hayden, M.R.
DOI: 10.1016/j.nbd.2012.06.026

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

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity
Song, W. and Chen, J. and Petrilli, A. and Liot, G. and Klinglmayr, E. and Zhou, Y. and Poquiz, P. and Tjong, J. and Pouladi, M.A. and Hayden, M.R. and Masliah, E. and Ellisman, M. and Rouiller, I. and Schwarzenbacher, R. and Bossy, B. and Perkins, G. and Bossy-Wetzel, E.
DOI: 10.1038/nm.2313

Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease
Simpson, J.M. and Gil-Mohapel, J. and Pouladi, M.A. and Ghilan, M. and Xie, Y. and Hayden, M.R. and Christie, B.R.
DOI: 10.1016/j.nbd.2010.09.012

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

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

Taking a SUMO off a TRP for bad conduct
Clinical Genetics
MA Pouladi
DOI: 10.1111/j.1399-0004.2009.01366_2.x

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

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice
Milnerwood, A.J. and Gladding, C.M. and Pouladi, M.A. and Kaufman, A.M. and Hines, R.M. and Boyd, J.D. and Ko, R.W.Y. and Vasuta, O.C. and Graham, R.K. and Hayden, M.R. and Murphy, T.H. and Raymond, L.A.
DOI: 10.1016/j.neuron.2010.01.008

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

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, Â. and Hayden, M.R.
DOI: 10.1093/brain/awp006

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

Despite antiatherogenic metabolic characteristics, SCD1-deficient mice have increased inflammation and atherosclerosis
MacDonald, M.L.E. and Van Eck, M. and Hildebrand, R.B. and Wong, B.W.C. and Bissada, N. and Ruddle, P. and Kontush, A. and Hussein, H. and Pouladi, M.A. and Chapman, M.J. and Fievet, C. and Van Berkel, T.J.C. and Staels, B. and McManus, B.M. and Hayden, M.R.
DOI: 10.1161/ATVBAHA.108.181099

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin
Okamoto, S.-I. and Pouladi, M.A. and Talantova, M. and Yao, D. and Xia, P. and Ehrnhoefer, D.E. and Zaidi, R. and Clemente, A. and Kaul, M. and Graham, R.K. and Zhang, D. and Vincent Chen, H.-S. and Tong, G. and Hayden, M.R. and Lipton, S.A.
DOI: 10.1038/nm.2056

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

Molecular pathogenesis of Huntington's disease: The role of excitotoxicity
Pouladi, M.A. and Bezprozvanny, I. and Raymond, L.A. and Hayden, M.R.
DOI: 10.1016/B978-012369462-1/50016-8

Molecular Pathogenesis of Huntington's Disease
Genetic Instabilities and Neurological Diseases
Mahmoud A. Pouladi and Ilya Bezprozvanny and Lynn A. Raymond and Michael R. Hayden
DOI: 10.1016/b978-012369462-1/50016-8

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

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

Juvenile myoclonic epilepsy, calcium and the EF hand of death
Clinical Genetics
MA Pouladi
DOI: 10.1111/j.1399-0004.2005.00421.x

House dust mite facilitates ovalbumin-specific allergic sensitization and airway inflammation
Fattouh, R. and Pouladi, M.A. and Alvarez, D. and Johnson, J.R. and Walker, T.D. and Goncharova, S. and Inman, M.D. and Jordana, M.
DOI: 10.1164/rccm.200502-198OC

A link between ALOX5AP and myocardial infarction and stroke
Clinical Genetics
MA Pouladi
DOI: 10.1111/j.0009-9163.2004.00281b.x

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. Stämpfli
DOI: 10.1165/rcmb.2003-0259oc

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. Stämpfli
DOI: 10.1165/rcmb.2003-0051oc

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 Stämpfli, M.R.
DOI: 10.1164/rccm.200311-1521OC

Concomitant airway expression of granulocyte-macrophage colony-stimulating factor and decorin, a natural inhibitor of transforming growth factor-ß, breaks established inhalation tolerance
Swirski, F.K. and Gajewska, B.U. and Robbins, C.S. and D'Sa, A. and Johnson, J.R. and Pouladi, M.A. and Inman, M.D. and Stämpfli, M.R.
DOI: 10.1002/eji.200425012

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


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.

Research Group Members

Natalia Bartlomowicz, Directed Studies Student
Ema Feng, Research Associate
Costanza Ferrari Bardile, Postdoctoral Fellow
Sophie Gjervan
Shaima Hourani, Masters Student
Tatiana MacKeigan, Graduate Student
Ryan McCallum, Graduate Research Assistant
Oz Ozgoren, Graduate Research Assistant
Glen Lester Sequiera, Postdoctoral Fellow
Katherine Van Belois, Research Technician
Skyla Witt, Graduate research assistant