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Article

New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeats

9 Dec 2011

Abstract excerpt

Myotonic Dystrophy type I (DM1) is caused by an abnormal expansion of CTG triplets in the 3' UTR of the dystrophia myotonica protein kinase (DMPK) gene, leading to the aggregation of the mutant transcript in nuclear RNA foci. The expanded mutant transcript promotes the sequestration of the MBNL1 splicing factor, resulting in the misregulation of a subset of alternative splicing events. In this study, we identify...

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PMID: 22156369
DOI: 10.1093/nar/gkr1228

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Related research

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New function for the RNA helicase p68/DDX5 as a modifier of MBNL1 activity on expanded CUG repeatsPMID 22156369Read ↗

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MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin TSemantic proximity Read ↗

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