Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I

Myotonic dystrophy type I (DM1) is a disabling multisystemic disease that predominantly affects skeletal muscle. It is caused by expanded CTG repeats in the 3′-UTR of the dystrophia myotonica protein kinase (DMPK) gene. RNA hairpins formed by elongated DMPK transcripts sequester RNA-binding proteins...

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Udgivet i:J Clin Invest
Main Authors: Brockhoff, Marielle, Rion, Nathalie, Chojnowska, Kathrin, Wiktorowicz, Tatiana, Eickhorst, Christopher, Erne, Beat, Frank, Stephan, Angelini, Corrado, Furling, Denis, Rüegg, Markus A., Sinnreich, Michael, Castets, Perrine
Format: Artigo
Sprog:Inglês
Udgivet: American Society for Clinical Investigation 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5272183/
https://ncbi.nlm.nih.gov/pubmed/28067669
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI89616
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