Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds

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Arandel, Ludovic; Polay Espinoza, Micaela; Matloka, Magdalena; Bazinet, Audrey; De Dea Diniz, Damily; Naouar, Naïra; Rau, Frédérique; Jollet, Arnaud; Edom-Vovard, Frédérique; Mamchaoui, Kamel; Tarnopolsky, Mark; Puymirat, Jack; Battail, Christophe; Boland, Anne; Deleuze, Jean-Francois; Mouly, Vincent; Klein, Arnaud F.; Furling, Denis;
  • Publisher: The Company of Biologists
  • Journal: Disease Models & Mechanisms,volume 10,issue 4,pages487-497 (issn: 1754-8403, eissn: 1754-8411)
  • Publisher copyright policies & self-archiving
  • Related identifiers: doi: 10.1242/dmm.027367, pmc: PMC5399563
  • Subject: Dd | Resource Article | RB1-214 | Expanded repeats | Pathology | Alternative splicing | Medicine | [SDV.BC]Life Sciences [q-bio]/Cellular Biology | Myotonic dystrophy | Therapeutic compounds | R | [ SDV.BC ] Life Sciences [q-bio]/Cellular Biology | Muscle cell line | [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology | [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology | Nuclear aggregates
    mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalities | musculoskeletal diseases

International audience; Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular diseases caused by microsatellite expansions and belong to the family of RNA-dominant disorders. Availability of cellular models in which the DM mutation is exp... View more
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