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Somlo, Stefan; 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
Nature genetics, 06/2004, Letnik: 36, Številka: 6Journal Article
Mutations in PRKCSH, encoding the β-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.
