Article
MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing.
Nucleic acids research - 1 Apr 2010
Goers Emily S, Purcell Jamie, Voelker Rodger B, Gates Devika P, Berglund J Andrew
Abstract excerpt
Muscleblind-like 1 (MBNL1) regulates alternative splicing and is a key player in the disease mechanism of myotonic dystrophy (DM). In DM, MBNL1 becomes sequestered to expanded CUG/CCUG repeat RNAs resulting in splicing defects, which lead to disease symptoms. In order to understand MBNL1's role i...
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