Jack Puymirat

• Centre de recherche du CHU de Québec - Université Laval
• Centre thématique de recherche en neurosciences

Financements des 2 dernières années

Encadrements des 5 dernières années

• Siham Ait-Benichou, Doctorat en biologie cellulaire et moléculaire
• Thiéry De Serres-Bérard, Doctorat en neurosciences

Travaux de recherche des 5 dernières années

Cas9 nickase-mediated contraction of CAG/CTG repeats leads to phenotypic improvements in a Huntington’s disease mouse model Science Translational Medicine, 2026. Francesca Cicchetti, Jack Puymirat, Mariah J Lelos, Nicholas Denby Allen, Meghan Larin, Laura Heraty, Ruban Rex Peter Durairaj, Alysha Taylor, Vincent Dion, Alex Mas Monteys, Alvaro Murillo, Melanie Alpaugh, Pascale Aeschlimann, Alys Naomi Aston, Aeverie Eleanor Robin Heuchan, Gillian P Bates, Antoine Mangin, Emmanouil Metzakopian, Christian Landles, Emma Lauren Randall, Nina Stöberl, Soumyasree Bhattacharyya, Georgina Frances Osborne, Kyle Fears, Beverly L Davidson. DOI 10.1126/scitranslmed.aef9466

MBNL2 dysfunction in outer radial glial cells is associated with disrupted corticogenesis in congenital myotonic dystrophy. Neurobiology of disease, 2026. De Serres-Bérard T, Gosztyla ML, Nguyen G, Yeo GW, Puymirat J, Chahine M. DOI 10.1016/j.nbd.2026.107305

Generation of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research. Stem cell research, 2024. Pierre M, Jauvin D, Puymirat J, Boutjdir M, Chahine M. DOI 10.1016/j.scr.2024.103375

Cardiac involvement in patient-specific induced pluripotent stem cells of myotonic dystrophy type 1: unveiling the impact of voltage-gated sodium channels. Frontiers in physiology, 2023. Pierre M, Djemai M, Chapotte-Baldacci CA, Pouliot V, Puymirat J, Boutjdir M, Chahine M. DOI 10.3389/fphys.2023.1258318

Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1. International journal of molecular sciences, 2022. De Serres-Bérard T, Ait Benichou S, Jauvin D, Boutjdir M, Puymirat J, Chahine M. DOI 10.3390/ijms232113359

Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1. Human gene therapy, 2022. Ait Benichou S, Jauvin D, De Serres-Bérard T, Bennett F, Rigo F, Gourdon G, Boutjdir M, Chahine M, Puymirat J. DOI 10.1089/hum.2022.069

Tau positron emission tomography, cerebrospinal fluid and plasma biomarkers of neurodegeneration, and neurocognitive testing: an exploratory study of participants with myotonic dystrophy type 1. Journal of neurology, 2022. Laforce RJ, Dallaire-Théroux C, Racine AM, Dent G, Salinas-Valenzuela C, Poulin E, Cayer AM, Bédard-Tremblay D, Rouleau-Bonenfant T, St-Onge F, Schraen-Maschke S, Beauregard JM, Sergeant N, Puymirat J. DOI 10.1007/s00415-022-10970-x

Antisense oligonucleotides as a potential treatment for brain deficits observed in myotonic dystrophy type 1. Gene therapy, 2022. Ait Benichou S, Jauvin D, De Serres-Bérard T, Pierre M, Ling KK, Bennett CF, Rigo F, Gourdon G, Chahine M, Puymirat J. DOI 10.1038/s41434-022-00316-7

Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy. Neurobiology of disease, 2021. De Serres-Bérard T, Pierre M, Chahine M, Puymirat J. DOI 10.1016/j.nbd.2021.105532

iPSC-derived cardiomyocytes from patients with myotonic dystrophy type 1 have abnormal ion channel functions and slower conduction velocities. Scientific reports, 2021. Poulin H, Mercier A, Djemai M, Pouliot V, Deschenes I, Boutjdir M, Puymirat J, Chahine M. DOI 10.1038/s41598-021-82007-8