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- Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
Abnormal splicing switch of DMD’s penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
Auteurs
Frédérique Rau, Jeanne Lainé, Laetitita Ramanoudjame, Arnaud Ferry, Ludovic Arandel, Olivier Delalande, Arnaud Jollet, Florent Dingli, Kuang-Yung Lee, Cécile Peccate, Stéphanie Lorain, Edor Kabashi, Takis Athanasopoulos, Taeyoung Koo, Damarys Loew, Maurice S. Swanson, Elisabeth Le Rumeur, George Dickson, Valérie Allamand, Joëlle Marie, Denis Furling
Résumé
Abstract
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 splicing of