Article
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation.
Nature genetics - 19 Jun 2011
Fedeles Sorin V, Tian Xin, Gallagher Anna-Rachel, Mitobe Michihiro, Nishio Saori, Lee Seung Hun, Cai Yiqiang, Geng Lin, Crews Craig M, Somlo Stefan
Abstract excerpt
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 IIβ and Sec63p are required in mice for adequate expression of a functional complex of the polycystic kidney disease gene products, polycystin-1 and...
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