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Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy

Myotonic Dystrophy type 1 (DM1) is a dominant neuromuscular disease caused by nuclear-retained RNAs containing expanded CUG repeats. These toxic RNAs alter the activities of RNA splicing factors resulting in alternative splicing misregulation and muscular dysfunction. Here we show that the abnormal...

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Detalles Bibliográficos
Autores principales: Rau, Frédérique, Lainé, Jeanne, Ramanoudjame, Laetitita, Ferry, Arnaud, Arandel, Ludovic, Delalande, Olivier, Jollet, Arnaud, Dingli, Florent, Lee, Kuang-Yung, Peccate, Cécile, Lorain, Stéphanie, Kabashi, Edor, Athanasopoulos, Takis, Koo, Taeyoung, Loew, Damarys, Swanson, Maurice S., Le Rumeur, Elisabeth, Dickson, George, Allamand, Valérie, Marie, Joëlle, Furling, Denis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Pub. Group 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4458869/
https://www.ncbi.nlm.nih.gov/pubmed/26018658
http://dx.doi.org/10.1038/ncomms8205