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Article

MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse model.

The Journal of clinical investigation - 11 Feb 2025

Hu Rong-Chi, Zhang Yi, Nitschke Larissa, Johnson Sara J, Hurley Ayrea E, Lagor William R, Xia Zheng, Cooper Thomas A

Abstract excerpt

Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease caused by a CTG repeat expansion in the dystrophia myotonica protein kinase (DMPK) gene. The expanded CUG repeat RNA (CUGexp RNA) transcribed from the mutant allele sequesters the muscleblind-like (MBNL) family of RNA-binding proteins, causing their loss of function and disrupting regulated pre-mRNA processing. We used a DM1 heart mouse model that...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39932794
DOI: 10.1172/JCI186416
PMCID: PMC11957708

Genes

DMPK
MBNL1
MBNL2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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MBNL overexpression rescues cardiac phenotypes in a myotonic dystrophy type 1 heart mouse model.PMID 39932794Read ↗

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