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Article

Activation of the ubiquitin-proteasome system contributes to oculopharyngeal muscular dystrophy through muscle atrophy.

PLoS genetics - 1 Jan 2022

Ribot Cécile, Soler Cédric, Chartier Aymeric, Al Hayek Sandy, Naït-Saïdi Rima, Barbezier Nicolas, Coux Olivier, Simonelig Martine

Abstract excerpt

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset disorder characterized by progressive weakness and degeneration of specific muscles. OPMD is due to extension of a polyalanine tract in poly(A) binding protein nuclear 1 (PABPN1). Aggregation of the mutant protein in muscle nuclei is a hallmark of the disease. Previous transcriptomic analyses revealed the consistent deregulation of the ubiquitin-proteasome...

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Identifiers

PMID: 35025870
DOI: 10.1371/journal.pgen.1010015
PMCID: PMC8791501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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