title: Mutations in SEC63 cause autosomal dominant polycystic liver disease.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Yale University School of Medicine, P.O. Box 208029, 333 Cedar Street, New Haven, Connecticut 06520-8029, USA.
authors.forename: Sonia
authors.initials: S
authors.lastname: Davila
authors.forename: Laszlo
authors.initials: L
authors.lastname: Furu
authors.forename: Ali G
authors.initials: AG
authors.lastname: Gharavi
authors.forename: Xin
authors.initials: X
authors.lastname: Tian
authors.forename: Tamehito
authors.initials: T
authors.lastname: Onoe
authors.forename: Qi
authors.initials: Q
authors.lastname: Qian
authors.forename: Airong
authors.initials: A
authors.lastname: Li
authors.forename: Yiqiang
authors.initials: Y
authors.lastname: Cai
authors.forename: Patrick S
authors.initials: PS
authors.lastname: Kamath
authors.forename: Bernard F
authors.initials: BF
authors.lastname: King
authors.forename: Pablo J
authors.initials: PJ
authors.lastname: Azurmendi
authors.forename: Pia
authors.initials: P
authors.lastname: Tahvanainen
authors.forename: Helena
authors.initials: H
authors.lastname: Kääriäinen
authors.forename: Krister
authors.initials: K
authors.lastname: Höckerstedt
authors.forename: Olivier
authors.initials: O
authors.lastname: Devuyst
authors.forename: Yves
authors.initials: Y
authors.lastname: Pirson
authors.forename: Rodolfo S
authors.initials: RS
authors.lastname: Martin
authors.forename: Richard P
authors.initials: RP
authors.lastname: Lifton
authors.forename: Esa
authors.initials: E
authors.lastname: Tahvanainen
authors.forename: Vicente E
authors.initials: VE
authors.lastname: Torres
authors.forename: Stefan
authors.initials: S
authors.lastname: Somlo
mesh_terms: D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D004252:DNA Mutational Analysis; D004721:Endoplasmic Reticulum / Q000378:metabolism; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D018832:Molecular Chaperones; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011499:Protein Processing, Post-Translational; D016601:RNA-Binding Proteins
chemical_list: D008565:Membrane Proteins; D018832:Molecular Chaperones; D016601:RNA-Binding Proteins; C487464:SEC63 protein, human