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.

journal_name

Nat Genet

journal_title

Nature genetics

authors

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

doi

10.1038/ng1357

keywords:

subject

Has Abstract

pub_date

2004-06-01 00:00:00

pages

575-7

issue

6

eissn

1061-4036

issn

1546-1718

pii

ng1357

journal_volume

36

pub_type

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