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

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

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 hallma...

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Bibliographic Details
Main Authors: Cécile Ribot, Cédric Soler, Aymeric Chartier, Sandy Al Hayek, Rima Naït-Saïdi, Nicolas Barbezier, Olivier Coux, Martine Simonelig
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2022-01-01
Series:PLoS Genetics
Online Access:https://doi.org/10.1371/journal.pgen.1010015

Internet

https://doi.org/10.1371/journal.pgen.1010015

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