Abnormal Splicing of NEDD4 in Myotonic Dystrophy Type 2: Possible Link to Statin Adverse Reactions

Myotonic dystrophy type 2 (DM2) is a multisystemic disorder caused by a (CCTG)(n) repeat expansion in intron 1 of CNBP. Transcription of the repeats causes a toxic RNA gain of function involving their accumulation in ribonuclear foci. This leads to sequestration of splicing factors and alters pre-mR...

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Detalhes bibliográficos
Main Authors: Screen, Mark, Jonson, Per Harald, Raheem, Olayinka, Palmio, Johanna, Laaksonen, Reijo, Lehtimäki, Terho, Sirito, Mario, Krahe, Ralf, Hackman, Peter, Udd, Bjarne
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Investigative Pathology 2014
Assuntos:
Regular Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4116696/
https://ncbi.nlm.nih.gov/pubmed/24907641
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajpath.2014.04.013
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