Rbfox1 Downregulation and Altered Calpain 3 Splicing by FRG1 in a Mouse Model of Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD–like phenotypes. FRG1 has been implicated in splicing, and...

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Detalles Bibliográficos
Autores principales: Pistoni, Mariaelena, Shiue, Lily, Cline, Melissa S., Bortolanza, Sergia, Neguembor, Maria Victoria, Xynos, Alexandros, Ares, Manuel, Gabellini, Davide
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3536703/
https://www.ncbi.nlm.nih.gov/pubmed/23300487
http://dx.doi.org/10.1371/journal.pgen.1003186

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