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Article

RNA splicing is responsive to MBNL1 dose.

PloS one - 1 Jan 2012

Jog Sonali P, Paul Sharan, Dansithong Warunee, Tring Stephanie, Comai Lucio, Reddy Sita

Abstract excerpt

Myotonic dystrophy (DM1) is a highly variable, multi-system disorder resulting from the expansion of an untranslated CTG tract in DMPK. In DM1 expanded CUG repeat RNAs form hairpin secondary structures that bind and aberrantly sequester the RNA splice regulator, MBNL1. RNA splice defects resulting as a consequence of MBNL1 depletion have been shown to play a key role in the development of DM1 pathology. In...

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Source

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Identifiers

PMID: 23166594
DOI: 10.1371/journal.pone.0048825
PMCID: PMC3499511

Genes

MBNL1
DMPK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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