Article
Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Nature genetics - 1 Jun 2004
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, Höckerstedt Krister, Devuyst Olivier, Pirson Yves, Martin Rodolfo S, Lifton Richard P, Tahvanainen Esa, Torres Vicente E, Somlo Stefan
Abstract excerpt
Mutations in PRKCSH, encoding the beta-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...
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