Established PABPN1 intranuclear inclusions in OPMD muscle can be efficiently reversed by AAV-mediated knockdown and replacement of mutant expanded PABPN1

Oculopharyngeal muscular dystrophy (OPMD) is a rare autosomal dominant late-onset muscular dystrophy affecting approximately 1:100 000 individuals in Europe. OPMD is mainly characterized by progressive eyelid drooping (ptosis) and dysphagia although muscles of the limbs can also be affected late in...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Malerba, Alberto, Klein, Pierre, Lu-Nguyen, Ngoc, Cappellari, Ornella, Strings-Ufombah, Vanessa, Harbaran, Sonal, Roelvink, Peter, Suhy, David, Trollet, Capucine, Dickson, George
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
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General Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7343048/
https://ncbi.nlm.nih.gov/pubmed/31294444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz167
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