MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1

The expression and function of the skeletal muscle chloride channel CLCN1/ClC-1 is regulated by alternative splicing. Inclusion of the CLCN1 exon 7A is aberrantly elevated in myotonic dystrophy (DM), a genetic disorder caused by the expansion of a CTG or CCTG repeat. Increased exon 7A inclusion lead...

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Detalhes bibliográficos
Main Authors: Kino, Yoshihiro, Washizu, Chika, Oma, Yoko, Onishi, Hayato, Nezu, Yuriko, Sasagawa, Noboru, Nukina, Nobuyuki, Ishiura, Shoichi
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2009
Assuntos:
Molecular Biology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2770659/
https://ncbi.nlm.nih.gov/pubmed/19720736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/nar/gkp681
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