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Mitochondrial Dysfunction Reveals the Role of mRNA Poly(A) Tail Regulation in Oculopharyngeal Muscular Dystrophy Pathogenesis

Archive ouverte | Chartier, Aymeric | CCSD

International audience. Oculopharyngeal muscular dystrophy (OPMD), a late-onset disorder characterized by progressive degeneration of specific muscles, results from the extension of a polyalanine tract in poly(A) bi...

Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing

Archive ouverte | Klein, Pierre | CCSD

International audience. A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystro-phy (OPMD). Mutated PABPN1 proteins accumulate as...

Deregulation of the ubiquitin-proteasome system is the predominant molecular pathology in OPMD animal models and patients.

Archive ouverte | Anvar, Seyed, Yahya | CCSD

International audience. ABSTRACT: Oculopharyngeal muscular dystrophy (OPMD) is a late-onset progressive muscle disorder caused by a poly-alanine expansion mutation in the Poly(A) Binding Protein Nuclear 1 (PABPN1). ...

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