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Article

Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy.

Neurobiology of disease - 1 Jan 2012

Mankodi Ami, Wheeler Thurman M, Shetty Reena, Salceies Kelly M, Becher Mark W, Thornton Charles A

Abstract excerpt

The genetic basis of oculopharyngeal muscular dystrophy (OPMD) is a short expansion of a polyalanine tract (normal allele: 10 alanines, mutant allele: 11-17 alanines) in the nuclear polyadenylate binding protein PABPN1 which is essential for controlling poly(A) tail length in messenger RNA. Mutant PABPN1 forms nuclear inclusions in OPMD muscle. To investigate the pathogenic role of mutant PABPN1 in vivo, we...

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Source

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Identifiers

PMID: 21964252
DOI: 10.1016/j.nbd.2011.09.010
PMCID: PMC3225492

Genes

PABPN1

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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