A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging

Oculopharyngeal muscular dystrophy (OPMD) is caused by trinucleotide repeat expansion mutations in Poly(A) binding protein 1 (PABPN1). PABPN1 is a regulator of mRNA stability and is ubiquitously expressed. Here we investigated how symptoms in OPMD initiate only at midlife and why a subset of skeleta...

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Detalhes bibliográficos
Main Authors: Anvar, Seyed Yahya, Raz, Yotam, Verwey, Nisha, van der Sluijs, Barbara, Venema, Andrea, Goeman, Jelle J, Vissing, John, van der Maarel, Silvère M, ‘t Hoen, Peter A.C., van Engelen, Baziel G.M., Raz, Vered
Formato: Artigo
Idioma:Inglês
Publicado em: Impact Journals LLC 2013
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824410/
https://ncbi.nlm.nih.gov/pubmed/23793615
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