학술논문
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Document Type
Article
Author
Davila, Sonia; Furu, Laszlo; Gharavi, Ali G.; Tian, Xin; Onoe, Tamehito; Qian, Qi; Li, Airong; Cai, Yiqiang; Kamath, Patrick S.; King, Bernard F.; Azurmendi, Pablo J.; Tahvanainen, Pia; Kääriäinen, Helena; Krister Höckerstedt; Olivier Devuyst; Yves Pirson; Rodolfo S. Martin; Richard P. Lifton; Esa Tahvanainen; Vicente E. Torres
Source
Subject
*GENETIC mutation
*GENES
*LIVER diseases
*GENETIC disorders
*GLUCOSIDASES
*ENDOPLASMIC reticulum
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Language
ISSN
1061-4036
Abstract
Mutations in PRKCSH, encoding the ß-subunit of glucosidase II, an N-linked glycan-processing enzyme in the endoplasmic reticulum (ER), cause autosomal dominant polycystic liver disease. We found that mutations in SEC63, encoding a component of the protein translocation machinery in the ER, also cause this disease. These findings are suggestive of a role for cotranslational protein-processing pathways in maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease. [ABSTRACT FROM AUTHOR]