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

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). The molecular mechanisms that regulate disease onset and progression are largely unknown. In order to identify molecula...

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Detalles Bibliográficos
Autores principales: Anvar, Seyed Yahya, 't Hoen, Peter AC, Venema, Andrea, van der Sluijs, Barbara, van Engelen, Baziel, Snoeck, Marc, Vissing, John, Trollet, Capucine, Dickson, George, Chartier, Aymeric, Simonelig, Martine, van Ommen, Gert-Jan B, van der Maarel, Silvere M, Raz, Vered
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3156638/
https://www.ncbi.nlm.nih.gov/pubmed/21798095
http://dx.doi.org/10.1186/2044-5040-1-15

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