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Article

In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts

1 Jul 2001

Abstract excerpt

Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy and is inherited as an autosomal dominant trait. The genetic basis of DM1 is the expansion of a CTG repeat in the 3' untranslated region of a protein kinase gene (DMPK). The molecular mechanism by which this expanded repeat produces the pathophysiology of DM1 remains unknown. Transcripts from the expanded allele accumulate as foci in the...

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PMID: 11433021
DOI: 10.1093/nar/29.13.2766

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In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcriptsPMID 11433021Read ↗

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Expansion of a CUG trinucleotide repeat in the 3' untranslated region of myotonic dystrophy protein kinase transcripts results in nuclear retention of transcripts.Semantic proximity Read ↗

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The CTG repeat expansion size correlates with the splicing defects observed in muscles from myotonic dystrophy type 1 patientsSemantic proximity Read ↗

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