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 (2017)
  • Publisher: Cambridge Company of Biologists
  • Journal: Disease Models & Mechanisms, volume 10, issue 4, pages 487-497 (issn: 1754-8403, eissn: 1754-8411)
  • Related identifiers: doi: 10.1242/dmm.027367, pmc: PMC5399563
  • Subject: Dd | Resource Article | RB1-214 | Expanded repeats | Pathology | Alternative splicing | Medicine | 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 | 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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