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A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation

Autosomal dominant polycystic liver disease results from mutations in PRKCSH or SEC63. The respective gene products, glucosidase IIβ and SEC63p, function in protein translocation and quality control pathways in the endoplasmic reticulum. Here we show that glucosidase IIα and Sec63p are required in m...

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Autors principals: Fedeles, Sorin V, Tian, Xin, Gallagher, Anna-Rachel, Mitobe, Michihiro, Nishio, Saori, Lee, Seung Hun, Cai, Yiqiang, Geng, Lin, Crews, Craig M, Somlo, Stefan
Format: Artigo
Idioma:Inglês
Publicat: 2011
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3547075/
https://ncbi.nlm.nih.gov/pubmed/21685914
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.860
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