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Medline ® Abstract for Reference 56

of '肝脏囊性病变的诊断和处理'

Mutations in SEC63 cause autosomal dominant polycystic liver disease.
Davila S, Furu L, Gharavi AG, Tian X, Onoe T, Qian Q, Li A, Cai Y, Kamath PS, King BF, Azurmendi PJ, Tahvanainen P, Kääriäinen H, Höckerstedt K, Devuyst O, Pirson Y, Martin RS, Lifton RP, Tahvanainen E, Torres VE, Somlo S
Nat Genet. 2004;36(6):575.
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 maintaining epithelial luminal structure and implicate noncilial ER proteins in human polycystic disease.
Department of Internal Medicine, Yale University School of Medicine, P.O. Box 208029, 333 Cedar Street, New Haven, Connecticut 06520-8029, USA.