Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology

Oculopharyngeal muscular dystrophy (OPMD) is a late onset disease caused by polyalanine expansion in the poly(A) binding protein nuclear 1 (PABPN1). Several mouse models have been generated to study OPMD; however, most of these models have employed transgenic overexpression of alanine-expanded PABPN...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Vest, Katherine E., Phillips, Brittany L., Banerjee, Ayan, Apponi, Luciano H., Dammer, Eric B., Xu, Weiting, Zheng, Dinghai, Yu, Julia, Tian, Bin, Pavlath, Grace K., Corbett, Anita H.
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2017
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886286/
https://ncbi.nlm.nih.gov/pubmed/28575395
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx206
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