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MBNL1(42) and MBNL1(43) gene isoforms, overexpressed in DM1-patient muscle, encode for nuclear proteins interacting with Src family kinases

Myotonic dystrophy type-1 (DM1) is the most prevalent form of muscular dystrophy in adults. This disorder is an RNA-dominant disease, caused by expansion of a CTG repeat in the DMPK gene that leads to a misregulation in the alternative splicing of pre-mRNAs. The longer muscleblind-like-1 (MBNL1) tra...

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Detalles Bibliográficos
Autores principales: Botta, A, Malena, A, Tibaldi, E, Rocchi, L, Loro, E, Pena, E, Cenci, L, Ambrosi, E, Bellocchi, M C, Pagano, M A, Novelli, G, Rossi, G, Monaco, H L, Gianazza, E, Pantic, B, Romeo, V, Marin, O, Brunati, A M, Vergani, L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3763452/
https://www.ncbi.nlm.nih.gov/pubmed/23949219
http://dx.doi.org/10.1038/cddis.2013.291