Article
PRKCSH/80K-H, the protein mutated in polycystic liver disease, protects polycystin-2/TRPP2 against HERP-mediated degradation.
Human molecular genetics - 1 Jan 2010
Gao Hongyu, Wang Yan, Wegierski Tomasz, Skouloudaki Kassiani, Pütz Michael, Fu Xiao, Engel Christina, Boehlke Christopher, Peng Hongquan, Kuehn E Wolfgang, Kim Emily, Kramer-Zucker Albrecht, Walz Gerd
Abstract excerpt
Autosomal dominant polycystic liver disease (PCLD) is caused by mutations of either PRKCSH or Sec63, two proteins associated with the endoplasmic reticulum (ER). Both proteins are involved in carbohydrate processing, folding and translocation of newly synthesized glycoproteins. It is postulated that defective quality control of proteins initiates endoplasmic reticulum-associated degradation (ERAD), which disrupts...
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