Article

Regulation of Toxic RNA Foci and Mutant <i>DMPK</i> Transcripts: Role of MBNL Proteins and RNA Decay Pathways

2023-09-29

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is a progressive, multisystemic disorder caused by an expansion of CTG repeats in the 3’ untranslated region of the DMPK gene. When transcribed the mutant RNAs accumulate in affected tissues appearing as distinct foci when visualised by in situ hybridisation. The RNA foci are aggregates of CUG repeat-containing RNAs that sequester RNA-binding proteins, particularly muscleblind-lik...

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Literature Corpus work: 01253667-76e5-5f20-9f2a-78514f10cc06
DOI: 10.1101/2023.09.28.559487

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