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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Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: Impact Journals LLC 2013
Témata:
Research Paper
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3824410/
https://ncbi.nlm.nih.gov/pubmed/23793615
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