2024

Prowse, ENP, Turkalj, BA, Sébastien, M, Beaudet, D, McBride, HM, Brouhard, GJ, Pouladi, MA, Hendricks, AG. Huntingtin polyglutamine expansions misdirect axonal transport by perturbing motor and adaptor recruitment. bioRxiv. 2024. doi:10.1101/2024.04.12.589210

Duque Villegas L, Chandrasekaran A, Flintholm Andersen SA, Nørremølle A, Schmid B, Pouladi MA, Freude K. Generation of three isogenic gene-edited Huntington’s disease human embryonic stem cell lines with DOX-inducible NGN2 expression cassette in the AAVS1 safe locus. Stem Cell Research, 2024. doi:10.1016/j.scr.2024.103408

AlQazzaz MA, Ciamponi FE, Ho JC, Maron MI, Yadav M, Sababi AM, MacLeod G, Ahmadi M, Bullivant G, Tano V, Langley SR, Sánchez-Osuna M, Sachamitr P, Kushida M, Richards L, Ferrari Bardile C, Pouladi MA, Pugh T, Tyers M, Angers S, Dirks PB, Bader GD, Massirer KB, Barsyte-Lovejoy D, Shechter D, Harding RJ, Arrowsmith CH, Prinos P. PRMT5 is required for full-length HTT expression by repressing multiple proximal intronic polyadenylation sites. bioRxiv. 2024. doi:10.1101/2024.03.14.584861

Yadav M, Harding RJ, Li T, Xu X, Gall-Duncan T, Khan M, Ferrari Bardile C, Sequiera GL, Duan S, Chandrasekaran R, Pan A, Bu J, Yamazaki T, Hirose T, Prinos P, Tippett L, Turner C, Curtis MA, Faull RLM, Pouladi MA, Pearson CE, He HH, Arrowsmith CH. Huntingtin is an RNA-binding protein and participates in NEAT1-mediated paraspeckles. bioRxiv. 2024. doi:10.1101/2024.02.07.579162.

Liu X, Fan X, Wang F, Chen M, Xu Q, Zhu H, Xu A, Pouladi MA*, Xu X*. CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress. Cell Death & Disease. 2024 (* co-corresponding) doi:10.1038/s41419-024-06523-x.

Gjervan SC, Ozgoren OK, Gow A, Stockler-Ipsiroglu S, Pouladi MA. Claudin-11 in health and disease: implications for myelin disorders, hearing and fertility. Frontiers in Cellular Neuroscience. 2024. doi:10.3389/fncel.2023.1344090.

2023

Radulescu CI, Ferrari Bardile C, Garcia-Miralles M, Sidik H, Yusof NABM, Pouladi MA. Environmental deprivation effects on myelin ultrastructure in Huntington disease and wildtype mice. Molecular Neurobiology. 2023. https://doi.org/10.1007/s12035-023-03799-6

Park DS, Kozaki T, Tiwari SK, Moreira M, Khalilnezhad A, Torta F, Olivié N, Thiam CH, Liani O, Silvin A, Phoo WW, Gao L, Triebl A, Gonçalves L, Kong WT, Zhang XM, Dunsmore G, Dutertre CA, Lee S, Ong JM, Balachander A, Khalilnezhad S, Lum J, Duan K, Lim ZM, Tan L, Low I, Utami KH, Yeo XY, Di Tommaso S, Dupuy J-W, Varga B, Karadottir RT, Madathummal MC, Bonne I, Malleret B, Yasin ZB, Da NW, Tan Y, Wong WJ, Zhang J, Chen J, Sobota RM, Howland SW, Ng LG, Saltel F, Castel D, Grill J, Chan JKY, Thion MS, Sangyong J, Wenk MR, Pouladi MA, Pasqualini C, Angeli V, Cexus ONF, Ginhoux F. iPSC-derived microglia export cholesterol to neuronal cells in human brain organoids and promote their maturation. Nature. 2023. https://doi.org/10.1038/s41586-023-06713-1

Utami KH, Yusof NABM, Garcia-Miralles M, Skotte N, Nama S, Sampath P, Langley SR, Pouladi MA. Dysregulated COMT expression in fragile X syndrome. NeuroMolecular Medicine. 2023. https://doi.org/10.1007/s12017-023-08754-1

Ozgoren OK, Sequiera GS, Ferrari Bardile C, Gjervan SC, Salman A, Lehman A, Turvey SE, Ross CJD, Stockler S, Pouladi MA. Generation of a human induced pluripotent stem cell line from a patient with hypomyelinating leukodystrophy 22 (HLD22). Stem Cell Research. 2023. https://doi.org/10.1016/j.scr.2023.103174.

October 2023 cover of Trends in Molecular Medicine, featuring a review article by Ferrari Bardile, Redulescu, and Pouladi on Oligodendrocytes in Hutington's disease. The cover art is by artist Megan Carroll.

Ferrari Bardile C, Radulescu CI, Pouladi MA. Oligodendrocyte Pathology in Huntington disease: from Mechanisms to Therapeutics. Trends in Molecular Medicine. 2023. https://doi.org/10.1016/j.molmed.2023.07.010.

Petrozziello T, Huntress SS, Castillo-Torres AL, Quinn JP, Connors TR, Auger CA, Mills AN, Kim SE, Liu S, Mahmood F, Boudi A, Wu M, Sapp E, Kivisakk P, Sunderesh SR, Pouladi MA, Arnold SE, Hyman BT, Rosas HD, DiFiglia M, Pinto RM, Kegel-Gleason K, Sadri-Vakili G. Age-dependent increase in tau phosphorylation at serine 396 in Huntington’s disease pre-frontal cortex. Journal of Huntington’s Disease. 2023. https://doi.org/10.3233/JHD-230588. (Initially posted as medRxiv 2023.06.03.23290851. https://doi.org/10.1101/2023.06.03.23290851)

Tano V, Utami KH, Yusof NABM, Begin J, Tan WWL, Pouladi MA, Langley SR. Widespread dysregulation of mRNA splicing implicates RNA processing in the development and progression of Huntington’s disease. EBioMedicine. 2023. 94:104720. doi: 10.1016/j.ebiom.2023.104720. [Initially posted as bioRxiv 2022.11.30.518612 doi:10.1101/2022.11.30.518612.]

2022

Yu-Taeger L, Novati A, Weber JJ, Singer-Mikosch E, Pabst A-S, Cheng F, Saft C, Koenig J, Ellrichmann G, Heikkinen T, Pouladi MA, Riess O, Nguyen HP. Evidences for Mutant Huntingtin Inducing Musculoskeletal and Brain Growth Impairments via Disturbing Testosterone Biosynthesis in Male Huntington Disease Animals. Cells. 2022; 11(23):3779. https://doi.org/10.3390/cells11233779

Zhang A, Sokolova I, Domissy A, Davis J, Rao L, Hana Utami K, Wang Y, Hagerman RJ, Pouladi MA, Sanna P, Boland MJ, Loring JF. Maturation Delay of Human GABAergic Neurogenesis in Fragile X Syndrome Pluripotent Stem Cells. Stem Cells Transl Med. 2022. doi: 10.1093/stcltm/szac022.

Ziaei A, Garcia-Miralles M, Radulescu CI, Sidik H, Silvin A, Bae HG, Bonnard C, Yusof NABM, Ferrari Bardile C, Ng AYJ, Tohari S, Dehghani L, Henry L, Yeo XY, Lee S, Venkatesh B, Langley SR, Shaygannejad V, Reversade B, Jung S, Ginhoux F, Pouladi MA. Ermin deficiency leads to compromised myelin, inflammatory milieu, and susceptibility to demyelinating insult. Brain Pathology. 2022. doi: 10.1111/bpa.13064.

2021

Gabery S, Kwa EJ, Baldo B, Ferrari Bardile C, Cheong R, Poudel G, Georgiou-Karistianis N, McLean C, Halliday G, Pouladi MA*, Petersén A*. Early white matter pathology in the fornix of the limbic system in Huntington disease. Acta Neuropathologica. 2021. doi:10.1007/s00401-021-02362-8. (* co-senior)

Peteri UK, Pitkonen J, de Toma I, Nieminen O, Utami KH, Strandin TM, Dierssen M, Vaheri A, Ethell I, Casarotto P, Pouladi MA, Castrén ML. Urokinase modulates functional responses of human forebrain astrocytes. Glia. 2021. doi:10.1002/glia.24080.

Ferrari Bardile C, Sidik H, Quek R, Yusof NABM, Garcia-Miralles M, Pouladi MA. Abnormal spinal cord myelination due to oligodendrocyte dysfunction in a model of Huntington disease. Journal of Huntington’s Disease. 2021. doi:10.3233/JHD-210495.

Lemarié FL, Caron NS, Sanders SS, Schmidt ME, Nguyen YTN, Ko Y, Xu X, Pouladi MA, Martin DO, Hayden MR. Palmitoylation of huntingtin is downregulated in Huntington disease in vivo and in vitro and can be rescued to ameliorate mHTT-induced toxicity. Neurobiology of Disease. 2021. doi:10.1016/j.nbd.2021.105479 [BioRxiv. doi:10.1101/2021.03.26.437210].

Sorek M, Oweis W, Simon S, Nissim-Rafinia M, Maman M, Simon S, Hession CC, Adiconis X, Simmons SK, Sanjana N, Shi X, Lu C, Pan JQ, Xu X, Pouladi MA, Ellerby LM, Zhang F, Levin JZ, Meshorer E. Pluripotent stem cell derived models of neurological diseases reveal early transcriptional heterogeneity. Genome Biology. 2021. 22(1):73. doi: 10.1186/s13059-021-02301-6.

Peteri UK, Pitkonen J, Utami KH, Paavola J, Roybon L, Pouladi MA, Castrén ML. Generation of the Human Pluripotent Stem-Cell-Derived Astrocyte Model with Forebrain Identity. Brain Sciences. 2021. doi: 10.3390/brainsci11020209.

Sahni G, Chang SY, Teo JCM, Tan JZY, Fatien JJ, Bonnard C, Utami KH, Chan PW, Tan TT, Altunoglu U, Kayserili H, Pouladi M, Reversade B, Toh YC. A micropatterned human-specific neuroepithelial tissue for modeling gene and drug-induced neurodevelopmental defects. Advanced Science. 2021. doi:10.1002/advs.202001100.

2020

Wright GEB, Caron NS, Ng B, Casal L, Xu X, Ooi J, Pouladi MA, Mostafavi S, Ross CJD, Hayden MR. Gene expression profiles complement the analysis of genomic modifiers of the clinical onset of Huntington disease. Human Molecular Genetics. 2020. doi:10.1093/hmg/ddaa184.

Xu X, Ng B, Sim B, Radulescu CI, Yusof NABM, Goh WI, Lin S, Lim JSY, Cha Y, Kusko R, Kay C, Ratovitski T, Ross C, Hayden MR, Wright G, Pouladi MA. pS421 huntingtin modulates mitochondrial phenotypes and confers neuroprotection in an HD hiPSC model. Cell Death and Disease. 2020. doi:10.1038/s41419-020-02983-z.

Skotte NH, Pouladi MA, Ehrnhoefer DE, Huynh K, Qiu X, Nielsen SMB, Nielsen TT, Nørremølle A, Hayden MR. Compromised IGF signaling causes caspase-6 activation in Huntington disease. Experimental Neurology. 2020. doi: 10.1016/j.expneurol.2020.113396.

Ziaei A, Garcia-Miralles M, Radulescu CI, Sidik H, Silvin A, Bae HG, Bonnard C, Yusof NABM, Ferrari Bardile C, Ng AYJ, Tohari S, Dehghani L, Venkatesh B, Langley SR, Shaygannejad V, Reversade B, Jung S, Ginhoux F, Pouladi MA. Ermin deficiency as an inside-out model of inflammatory dysmyelination. BioRxiv. 2020. doi:10.1101/2020.06.16.154781.

Laroche M, Lessard-Beaudoin M, Garcia-Miralles M, Kreidy C, Peachey E, Leavitt BR, Pouladi MA, Graham RK. Early deficits in olfaction are associated with structural and molecular alterations in the olfactory system of a Huntington disease mouse model. Human Molecular Genetics. 2020. doi:10.1093/hmg/ddaa099.

Utami KH, Yusof NABM, Kwa EJ, Peteri UKA, Castrén ML, Pouladi MA. Elevated de novo protein synthesis in FMRP-deficient human neurons and its correction by metformin treatment. Molecular Autism. 2020. doi:10.1186/s13229-020-00350-5.

Commentary: Wang JY. Using an Isogenic Human Pluripotent Stem Cell Model for Better Understanding Neurodevelopmental Defects in Fragile X Syndrome. Biological Psychiatry, 2020. 88(6):e25-e27. doi:10.1016/j.biopsych.2020.07.008.

Utami KH, Skotte N, Colaço AR, Yusof NABM, Sim B, Yeo XY, Bae HG, Radulescu C, Garcia-Miralles M, Chen Q, Chaldaiopoulou G, Liany H, Nama S, Peteri UKA, Sampath P, Castrén ML, Jung S, Mann M, Pouladi MA. Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in Fragile X Syndrome. Biological Psychiatry. 2020. 88(6):500-511. doi:10.1016/j.biopsych.2020.05.005. [BioRxiv. doi:10.1101/606038]

Commentary: Wang JY. Using an Isogenic Human Pluripotent Stem Cell Model for Better Understanding Neurodevelopmental Defects in Fragile X Syndrome. Biological Psychiatry, 2020, 88(6):e25-e27. doi:10.1016/j.biopsych.2020.07.008.

Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Yau M, Li H, Pierce S, Lebigot É, Tan T, Eio MY, Utami KH, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Desai S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Alkuraya FS, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AAl, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Tang S, Ng AYJ, Tohari S, Venkatesh B, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Maddirevula S, Begtrup AG, Telegrafi A, Pfundt R, Schule R, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Barycki JJ, Lefeber DJ, Ciruna B, Mathuru AS, Simpson MA, Jamuar SS, Schöls L, Reversade B. Loss-of-function Mutations in UDP-Glucose-6-Dehydrogenase Are a Novel Cause of Recessive Developmental Epileptic Encephalopathy. Nature Communications. 2020. doi:10.1038/s41467-020-14360-7.

Sidik H, Ang CJ, Pouladi MA. Huntingtin confers fitness but is not embryonically essential in zebrafish development. Developmental Biology. 2020. doi:10.1016/j.ydbio.2019.10.037 [BioRxiv. doi:10.1101/615591]

2019

Zhang J, Ooi J, Utami KH, Langley SR, Aning OA, Renner M, Ma S, Cheok CF, Knoblich JA, Ginhoux F, Petretto E, Pouladi MA. Expanded huntingtin CAG repeats disrupt the balance between neural progenitor expansion and differentiation in isogenic human cerebral organoids. BioRxiv. doi:10.1101/850586.

Zeng R, Sidik H, Robinson KS, Zhong FL, Reversade B, Pouladi MA. Generation of four H1 hESC sublines carrying a hemizygous knock-out/mutant MECP2. Stem Cell Research. 2019. doi:10.1016/j.scr.2019.101533

Ziaei A, Xu X, Dehghani L, Bonnard C, Zellner A, Jin Ng AY, Tohari S, Venkatesh B, Haffner C, Reversade B, Shaygannejad V, Pouladi MA. Novel mutation in HTRA1 in a family with diffuse white matter lesions and inflammatory features. Neurology Genetics. 2019. 5(4):e345–10.

Ferrari Bardile C, Garcia-Miralles M, Caron NS, Rayan NA, Langley SR, Harmston N, Rondelli AM, Teo RTY, Waltl S, Anderson LM, Bae HG, Jung S, Williams A, Prabhakar S, Petretto E, Hayden MR, Pouladi MA. Intrinsic mutant HTT-mediated defects in oligodendroglial cells cause myelin deficits and behavioural abnormalities in Huntington disease. PNAS. doi:10.1073/pnas.1818042116

van Kuilenburg ABP*, Tarailo-Graovac M*, Richmond PA*, Drögemöller BI, Pouladi MA, Leen R, Brand-Arzamendi K, Dobritzsch D, Dolzhenko E, Eberle MA, Hayward B, Jones MJ, Karbassi F, Kobor MS, Koster J, Kumari D, Li M, MacIsaac J, McDonald C, Meijer J, Nguyen C, Rajan-Babu IS, Scherer SW, Sim B, Trost B, Tseng LA, Turkenburg M, van Vugt JJFA, Veldink JH, Walia JS, Wang Y, van Weeghel M, Wright GEB, Xu X, Yuen RKC, Zhang J, Ross CJ, Wasserman WW, Geraghty MT, Santra S, Wanders RJA, Wen XY, Waterham HR, Usdin K, van Karnebeek CDM. Glutaminase deficiency caused by short tandem repeat expansion in GLS. New England Journal of Medicine. 2019. 380:1433-41. PMID:30970188.

Teo RTY, Ferrari Bardile C, Tay YL, Yusof NABM, Kreidy CA, Tan LJ, Pouladi MA. Impaired remyelination in a mouse model of Huntington disease. Molecular Neurobiology. 2019. PMID:30937636. [PDF]

Radulescu CI, Garcia-Miralles M, Sidik H, Bardile CF, Yusof NABM, Ung LH, Ho X, Chu W, Layton E, Low D, De Sessions PF, Pettersson S, Ginhoux F, Pouladi MA. Manipulation of microbiota reveals altered callosal myelination and white matter plasticity in a model of Huntington disease. Neurobiology of Disease. 2019. PMID:30802499. [PDF]

Ooi J*, Langley S*, Xu X*, Utami KH*, Sim B, Huang Y, Harmston NP, Tay YL, Ziaei A, Zeng R, Low D, Aminkeng F, Sobota RM, Ginhoux F, Petretto EG, Pouladi MA. Unbiased profiling of isogenic Huntington disease hPSC-derived CNS and peripheral cells reveals strong cell-type-specificity of CAG length effects. Cell Reports. 2019. 26(9): P2494-2508.E7. [PDF]

Garcia-Miralles M, Yusof NABM, Tan JY, Radulescu CI, Sidik H, Tan LJ, Zach N, Hayden MR, Pouladi MA. Laquinimod treatment improves myelination deficits at the transcriptional and ultrastructural levels in the YAC128 mouse model of Huntington disease. Molecular Neurobiology. 2019. PMID:30334188. [PDF]

2018

Chang WT, Puspitasari F, Garcia-Miralles M, Yeowa LY, Tay HC, Koh KB, Tan LJ, Pouladi MA, Chuang KH. Connectomic imaging reveals Huntington-related pathological and pharmaceutical effects in a mouse model. NMR in Biomedicine. 2018. PMID:30260561. [PDF]

Kusko R, Dreymann J, Ross J, Cha Y, Escalante-Chong R, Garcia-Miralles M, Tan LJ, Burczynski ME, Zeskind B, Laifenfeld D, Pouladi MA, Geva M, Grossman I, Hayden MR. Large-scale transcriptomic analysis reveals that pridopidine reverses aberrant gene expression and activates neuroprotective pathways in the YAC128 HD mouse. Molecular Neurodegeneration. 2018. PMID:29783994. 

Chia PH, Zhong FL, Niwa S, Bonnard C, Utami KH, Zeng R, Lee H, Eskin A, Nelson A, Xie W, Al-Tawalbeh S, El-Khateeb M, Shboul M, Pouladi MA, Al-Raqad M, Reversade B. A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disabilityeLife. 2018. PMID:29784083.

2017

Garcia-Miralles M, Geva M, Tan JY, Yusof NA, Cha Y, Kusko R, Tan LJ, Xu X, Grossman I, Orbach A, Hayden MR, Pouladi MA. Early pridopidine treatment improves behavioural and transcriptional deficits in Huntington disease mice. JCI Insight. 2017. PMID:29212949. [PDF]

Xu X, Utami KH, Radulescu CI, Pouladi MA. Obtaining multi-electrode array recordings from human induced pluripotent stem cell-derived neurons. Bio-protocol. 2017. doi:10.21769/BioProtoc.2609. [PDF]

Chen MZ, Moily NS, Bridgford J, Wood RJ, Radwan M, Bridgford J, Smith TA, Song Z, Tang BZ, Tilley L, Xu X, Reid GE, Pouladi MA, Hong Y, Hatters DM. A thiol probe for measuring unfolded protein load and proteostasis in cells. Nature Communications. 2017. PMID:28883394.

Takata K, Kozaki T, Lee CZW, Thion MS, Otsuka M, Lim S, Utami KH, Fidan K, Park DS, Malleret B, Chakarov S, See P, Low D, Low G, Garcia-Miralles M, Zeng R, Zhang J, et al. Garel S, Pouladi MA, Ginhoux F. Induced-Pluripotent-Stem-Cell-Derived Primitive Macrophages Provide a Platform for Modeling Tissue-Resident Macrophage Differentiation and Function. Immunity. 2017. PMID:28723550.

Xu X, Tay YL, Sim B, Yoon SI, Huang Y, Ooi J, Utami KH, Radulescu C, Low D, Loh M, Ginhoux F, Augustine GJ, Pouladi MA. Reversal of Phenotypic Abnormalities by CRISPR/Cas9-Mediated Gene Correction in Huntington Disease Patient-Derived Induced Pluripotent Stem Cells. Stem Cell Reports. 2017. PMID:28238795. [PDF]

Southwell AL, Skotte NH, Villanueva EB, Østergaard ME, Gu X, Kordasiewicz HB, Kay C, Cheung D, Xie Y, Waltl S, Dal Cengio L, Doty CN, Petoukhov E, Findlay-Black H, Iworima D, Slama R, Ooi J, Pouladi MA, Yang XW, Swayze EE, Seth PP, Hayden MR. A novel humanized mouse model of Huntington disease for preclinical development of therapeutics targeting mutant huntingtin alleles. Human Molecular Genetics. 2017. PMID:28104789.

Julien SG, Kim SY, Brunmeir R, Sinnakannu JR, Ge X, Li H, Ma W, Yaligar J, Prakash B, Velan SS, Röder PV, Zhang Q, Sim CK, Wu J, Garcia-Miralles M, Pouladi MA, Xie W, McFarlane C, Han W, Xu F. Narciclasine attenuates diet-induced obesity by promoting oxidative metabolism in skeletal muscle. PLoS Biology. 2017. PMID:28207742.

2016

Garcia-Miralles M, Hong X, Tan LJ, Caron N, Huang Y, Lin R, Franciosi S, Hayardeny L, Hayden MR, Chuang KH, Pouladi MALaquinimod rescues striatal and white matter pathology and results in modest improvements in motor and depressive phenotypes in the YAC128 model of Huntington diseaseSci Rep.  2016. PMID:27528441. [PDF]

Itahana Y, Zhang J, Göke J, Vardy LA, Han R, Iwamoto K, Cukuroglu E, Robson P, Pouladi MA, Colman A, Itahana K. Histone modifications and p53 binding poise the p21 promoter for activation in human embryonic stem cells. Sci Rep.  2016. PMID:27346849 | PMCID:PMC4921813

Maillet A, Tan K, Chai X, Sadananda SN, Mehta A, Ooi J, Hayden MR, Pouladi MA, Ghosh S, Shim W, Brunham LR. Modeling Doxorubicin-Induced Cardiotoxicity in Human Pluripotent Stem Cell Derived-Cardiomyocytes. Sci Rep.  2016. PMID:27142468 | PMCID:PMC4855185

Teo RT, Hong X, Yu-Taeger L, Huang Y, Tan LJ, Xie Y, To XV, Guo L, Rajendran R, Novati A, Calaminus C, Riess O, Hayden MR, Nguyen HP, Chuang KH, Pouladi MA. Structural and molecular myelination deficits occur prior to neuronal loss in the YAC128 and BACHD models of Huntington disease. Hum Mol Genet.  2016. PMID:27126634 [PDF]

Riechers SP, Butland S, Deng Y, Skotte N, Ehrnhoefer DE, Russ J, Laine J, Laroche M, Pouladi MA, Wanker EE, Hayden MR, Graham RK. Interactome network analysis identifies multiple caspase-6 interactors involved in the pathogenesis of HD. Hum Mol Genet.  2016. PMID:26908611

Garcia-Miralles M, Ooi J, Ferrari Bardile C, Tan LJ, George M, Drum CL, Lin RY, Hayden MR, Pouladi MA. Treatment with the MAO-A inhibitor clorgyline elevates monoamine neurotransmitter levels and improves affective phenotypes in a mouse model of Huntington disease. Exp Neurol.  2016. PMID:26825854 [PDF]

2015

Southwell AL, Franciosi S, Villanueva EB, Xie Y, Winter LA, Veeraraghavan J, Jonason A, Felczak B, Zhang W, Kovalik V, Waltl S, Hall G, Pouladi MA, Smith ES, Bowers WJ, Zauderer M, Hayden MR. Anti-semaphorin 4D immunotherapy ameliorates neuropathology and some cognitive impairment in the YAC128 mouse model of Huntington disease. Neurobiol Dis.  2015. PMID:25662335

Wong BK, Ehrnhoefer DE, Graham RK, Martin DD, Ladha S, Uribe V, Stanek LM, Franciosi S, Qiu X, Deng Y, Kovalik V, Zhang W, Pouladi MA, Shihabuddin LS, Hayden MR. Partial rescue of some features of Huntington Disease in the genetic absence of caspase-6 in YAC128 mice. Neurobiol Dis.  2015. PMID:25583186

Ooi J, Hayden MR, Pouladi MA. Inhibition of Excessive Monoamine Oxidase A/B Activity Protects Against Stress-induced Neuronal Death in Huntington Disease. Mol Neurobiol.  2015. PMID:25398695 | PMCID:PMC4586002 [PDF]

2014

Philips T, Rothstein JD, Pouladi MA. Preclinical models: needed in translation? A Pro/Con debate. Mov Disord.  2014. PMID:25216370 [PDF]

2013

Pouladi MA, Morton AJ, Hayden MR. Choosing an animal model for the study of Huntington's disease. Nat Rev Neurosci.  2013. PMID:24052178

Marco S, Giralt A, Petrovic MM, Pouladi MA, Martínez-Turrillas R, Martínez-Hernández J, Kaltenbach LS, Torres-Peraza J, Graham RK, Watanabe M, Luján R, Nakanishi N, Lipton SA, Lo DC, Hayden MR, Alberch J, Wesseling JF, Pérez-Otaño I. Suppressing aberrant GluN3A expression rescues synaptic and behavioral impairments in Huntington's disease models. Nat Med.  2013. PMID:23852340 | PMCID:PMC3936794

Southwell AL, Warby SC, Carroll JB, Doty CN, Skotte NH, Zhang W, Villanueva EB, Kovalik V, Xie Y, Pouladi MA, Collins JA, Yang XW, Franciosi S, Hayden MR. A fully humanized transgenic mouse model of Huntington disease. Hum Mol Genet.  2013. PMID:23001568 | PMCID:PMC3606012

2012

Huang YH, Pouladi MA. Heritability of pain sensitivity and opioid analgesia. Clin Genet.  2012. PMID:22880893

Teo RT, Pouladi MA. PS: pain and sodium channels. Clin Genet.  2012. PMID:22880841

Pouladi MA. Painful gains: missense mutations in SCN9A and idiopathic small nerve fibre neuropathy. Clin Genet.  2012. PMID:22880747

Pouladi MA, Brillaud E, Xie Y, Conforti P, Graham RK, Ehrnhoefer DE, Franciosi S, Zhang W, Poucheret P, Compte E, Maurel JC, Zuccato C, Cattaneo E, Néri C, Hayden MR. NP03, a novel low-dose lithium formulation, is neuroprotective in the YAC128 mouse model of Huntington disease. Neurobiol Dis.  2012. PMID:22796360

Pouladi MA, Hayden MR. Polyglutamine diseases and the risk of cancer. Lancet Oncol.  2012. PMID:22652230

Pouladi MA, Stanek LM, Xie Y, Franciosi S, Southwell AL, Deng Y, Butland S, Zhang W, Cheng SH, Shihabuddin LS, Hayden MR. Marked differences in neurochemistry and aggregates despite similar behavioural and neuropathological features of Huntington disease in the full-length BACHD and YAC128 mice. Hum Mol Genet.  2012. PMID:22328089

Uribe V, Wong BK, Graham RK, Cusack CL, Skotte NH, Pouladi MA, Xie Y, Feinberg K, Ou Y, Ouyang Y, Deng Y, Franciosi S, Bissada N, Spreeuw A, Zhang W, Ehrnhoefer DE, Vaid K, Miller FD, Deshmukh M, Howland D, Hayden MR. Rescue from excitotoxicity and axonal degeneration accompanied by age-dependent behavioral and neuroanatomical alterations in caspase-6-deficient mice. Hum Mol Genet.  2012. PMID:22262731 | PMCID:PMC3315204

Graham RK, Deng Y, Pouladi MA, Vaid K, Ehrnhoefer D, Southwell AL, Bissada N, Franciosi S, Hayden MR. Caspase-6-Resistant Mutant Huntingtin Does not Rescue the Toxic Effects of Caspase-Cleavable Mutant Huntingtin in vivo. J Huntingtons Dis.  2012. PMID:25063333

2011

Pouladi M. Fragile X syndrome therapy: to respond or not to respond may be a matter of methylation. Clin Genet.  2011. PMID:21388370

Song W, Chen J, Petrilli A, Liot G, Klinglmayr E, Zhou Y, Poquiz P, Tjong J, Pouladi MA, Hayden MR, Masliah E, Ellisman M, Rouiller I, Schwarzenbacher R, Bossy B, Perkins G, Bossy-Wetzel E. Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity. Nat Med.  2011. PMID:21336284 | PMCID:PMC3051025

Graham RK, Deng Y, Carroll J, Vaid K, Cowan C, Pouladi MA, Metzler M, Bissada N, Wang L, Faull RL, Gray M, Yang XW, Raymond LA, Hayden MR. Cleavage at the 586 amino acid caspase-6 site in mutant huntingtin influences caspase-6 activation in vivo. J Neurosci.  2010. PMID:21068307 | PMCID:PMC3074336

Simpson JM, Gil-Mohapel J, Pouladi MA, Ghilan M, Xie Y, Hayden MR, Christie BR. Altered adult hippocampal neurogenesis in the YAC128 transgenic mouse model of Huntington disease. Neurobiol Dis.  2011. PMID:20875859

2010

Valenza M, Leoni V, Karasinska JM, Petricca L, Fan J, Carroll J, Pouladi MA, Fossale E, Nguyen HP, Riess O, MacDonald M, Wellington C, DiDonato S, Hayden M, Cattaneo E. Cholesterol defect is marked across multiple rodent models of Huntington's disease and is manifest in astrocytes. J Neurosci.  2010. PMID:20702713 | PMCID:PMC3842469

Milnerwood AJ, Gladding CM, Pouladi MA, Kaufman AM, Hines RM, Boyd JD, Ko RW, Vasuta OC, Graham RK, Hayden MR, Murphy TH, Raymond LA. Early increase in extrasynaptic NMDA receptor signaling and expression contributes to phenotype onset in Huntington's disease mice. Neuron.  2010. PMID:20152125

Pouladi MA, Xie Y, Skotte NH, Ehrnhoefer DE, Graham RK, Kim JE, Bissada N, Yang XW, Paganetti P, Friedlander RM, Leavitt BR, Hayden MR. Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression. Hum Mol Genet.  2010. PMID:20097678 | PMCID:PMC2846162

Pouladi MA. Taking a SUMO off a TRP for bad conduct. Clin Genet.  2010. PMID:20095982

Becanovic K, Pouladi MA, Lim RS, Kuhn A, Pavlidis P, Luthi-Carter R, Hayden MR, Leavitt BR. Transcriptional changes in Huntington disease identified using genome-wide expression profiling and cross-platform analysis. Hum Mol Genet.  2010. PMID:20089533 | PMCID:PMC2846159

2009

Okamoto S*, Pouladi MA*, Talantova M*, Yao D, Xia P, Ehrnhoefer DE, Zaidi R, Clemente A, Kaul M, Graham RK, Zhang D, Vincent Chen HS, Tong G, Hayden MR, Lipton SA. Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin. Nat Med.  2009. PMID:19915593 | PMCID:PMC2789858 (* co-first)

Ehrnhoefer DE, Butland SL, Pouladi MA, Hayden MR. Mouse models of Huntington disease: variations on a theme. Dis Model Mech.  2009. PMID:19259385 | PMCID:PMC2650190

Graham RK, Pouladi MA, Joshi P, Lu G, Deng Y, Wu NP, Figueroa BE, Metzler M, André VM, Slow EJ, Raymond L, Friedlander R, Levine MS, Leavitt BR, Hayden MR. Differential susceptibility to excitotoxic stress in YAC128 mouse models of Huntington disease between initiation and progression of disease. J Neurosci.  2009. PMID:19228972 | PMCID:PMC2729178

Pouladi MA, Graham RK, Karasinska JM, Xie Y, Santos RD, Petersén A, Hayden MR. Prevention of depressive behaviour in the YAC128 mouse model of Huntington disease by mutation at residue 586 of huntingtin. Brain.  2009. PMID:19224899

MacDonald ML, van Eck M, Hildebrand RB, Wong BW, Bissada N, Ruddle P, Kontush A, Hussein H, Pouladi MA, Chapman MJ, Fievet C, van Berkel TJ, Staels B, McManus BM, Hayden MR. Despite antiatherogenic metabolic characteristics, SCD1-deficient mice have increased inflammation and atherosclerosis. Arterioscler Thromb Vasc Biol.  2009. PMID:19095997 | PMCID:PMC2873333

2008

Björkqvist M, Wild EJ, Thiele J, Silvestroni A, Andre R, Lahiri N, Raibon E, Lee RV, Benn CL, Soulet D, Magnusson A, Woodman B, Landles C, Pouladi MA, Hayden MR, Khalili-Shirazi A, Lowdell MW, Brundin P, Bates GP, Leavitt BR, Möller T, Tabrizi SJ. A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease. J Exp Med.  2008. PMID:18625748 | PMCID:PMC2525598

2007

Kuhn A, Goldstein DR, Hodges A, Strand AD, Sengstag T, Kooperberg C, Becanovic K, Pouladi MA, Sathasivam K, Cha JH, Hannan AJ, Hayden MR, Leavitt BR, Dunnett SB, Ferrante RJ, Albin R, Shelbourne P, Delorenzi M, Augood SJ, Faull RL, Olson JM, Bates GP, et al. 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. Hum Mol Genet.  2007. PMID:17519223

2005 and earlier

Robbins CS*, Pouladi MA*, Fattouh R, Dawe DE, Vujicic N, Richards CD, Jordana M, Inman MD, Stampfli MR. Mainstream cigarette smoke exposure attenuates airway immune inflammatory responses to surrogate and common environmental allergens in mice, despite evidence of increased systemic sensitization. J Immunol.  2005. PMID:16116169 (* co-first)

Fattouh R, Pouladi MA, Alvarez D, Johnson JR, Walker TD, Goncharova S, Inman MD, Jordana M. House dust mite facilitates ovalbumin-specific allergic sensitization and airway inflammation. Am J Respir Crit Care Med.  2005. PMID:15879422

Drannik AG, Pouladi MA, Robbins CS, Goncharova SI, Kianpour S, Stämpfli MR. Impact of cigarette smoke on clearance and inflammation after Pseudomonas aeruginosa infection. Am J Respir Crit Care Med.  2004. PMID:15317669

Swirski FK, Gajewska BU, Robbins CS, D'Sa A, Johnson JR, Pouladi MA, Inman MD, Stämpfli MR. Concomitant airway expression of granulocyte-macrophage colony-stimulating factor and decorin, a natural inhibitor of transforming growth factor-beta, breaks established inhalation tolerance. Eur J Immunol.  2004. PMID:15307170

Robbins CS, Dawe DE, Goncharova SI, Pouladi MA, Drannik AG, Swirski FK, Cox G, Stämpfli MR. Cigarette smoke decreases pulmonary dendritic cells and impacts antiviral immune responsiveness. Am J Respir Cell Mol Biol.  2004. PMID:12920055

Pouladi MA, Robbins CS, Swirski FK, Cundall M, McKenzie AN, Jordana M, Shapiro SD, Stämpfli MR. Interleukin-13-dependent expression of matrix metalloproteinase-12 is required for the development of airway eosinophilia in mice. Am J Respir Cell Mol Biol.  2004. PMID:12842850

Coppolino MG, Dierckman R, Loijens J, Collins RF, Pouladi M, Jongstra-Bilen J, Schreiber AD, Trimble WS, Anderson R, Grinstein S. Inhibition of phosphatidylinositol-4-phosphate 5-kinase Ialpha impairs localized actin remodeling and suppresses phagocytosis. J Biol Chem. 2002. PMID:12223494