Oculopharyngeal muscular dystrophy

B. Poly alanine Extension in Oculopharyngeal Muscular Dystrophy... [Pg.202]

Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM, Lafreniere RG, Rommens JM, Uyama E, Nohira O, Blumen S, Korczyn AD, Heutink P, Mathieu J, Duranceau A, Codere F, Fardeau M, Rouleau GA, and Korcyn AD (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. Vat. Genet. 18 164-167. [Pg.200]

Oculopharyngeal muscular dystrophy (OPMD) PABPNl Polyadenylate-binding protein (1011-17)... [Pg.345]

Brais B (2003) Oculopharyngeal muscular dystrophy a late-onset polyalanine disease. Cytogenet Genome Res 100 252-260... [Pg.61]

Calado A, Tome FM, Brais B, Rouleau GA, Kuhn U, Wahle E, Carmo-Fonseca M (2000) Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA. Hum Mol Genet 9 2321-2328... [Pg.61]

Askanas V, Serdaroglu P, Engel WK et al. (2003) ImmunolocaUzation of ubiquitin in muscle biopsies of patients with inclusion body myositis and oculopharyngeal muscular dystrophy. Neurosci Lett 130, 73-76. [Pg.137]

The implication of these findings is that VCP plays some role in regulating the activity of RNA-binding proteins and mutations in VCP impair this function. Thus, there may be mechanistic overlap between the pathogenesis of IBM and the vast array of diseases that are characterized by defects in RNA metabolism, including myotonic dystrophy, oculopharyngeal muscular dystrophy, spinal muscular atrophy, and many others [51]. [Pg.234]

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