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Article

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

17 Oct 2007

Abstract excerpt

Myotonic dystrophy (DM) is a genetic disorder with multisystemic symptoms that is caused by expression (as RNA) of expanded repeats of CTG or CCTG in the genome. It is hypothesized that the RNA splicing factor muscleblind-like (MBNL) is sequestered to the expanded CUG or CCUG RNAs. Mislocalization of MBNL results in missplicing of a subset of pre-mRNAs that are linked to the symptoms found in DM patients. We...

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Identifiers

PMID: 17942744
DOI: 10.1261/rna.610607

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Co-opting MBNL-dependent alternative splicing cassette exons to control gene therapy in myotonic dystrophySemantic proximity Read ↗

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