Mutations in SEC63 cause autosomal dominant polycystic liver disease

被引：180

作者：

Davila, S

Furu, L

Gharavi, AG

Tian, X

Onoe, T

Qian, Q

Li, AR

Cai, YQ

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

机构：

[1] Yale Univ, Sch Med, Dept Internal Med, New Haven, CT 06520 USA

[2] Yale Univ, Sch Med, Dept Genet, New Haven, CT 06520 USA

[3] Mayo Clin, Dept Med, Rochester, MN USA

[4] Mayo Clin, Dept Radiol, Rochester, MN USA

[5] Univ Buenos Aires, Buenos Aires, DF, Argentina

[6] Natl Inst Publ Hlth, Dept Human Mol Genet, Helsinki, Finland

[7] Turku Univ, Dept Med Genet, Turku, Finland

[8] Univ Helsinki Hosp, Transplantat & Liver Surg Unit, Helsinki, Finland

[9] Clin Univ St, Brussels, Belgium

[10] Univ Helsinki, Dept Med Genet, Helsinki, Finland

来源：

NATURE GENETICS | 2004年 / 36卷 / 06期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1038/ng1357

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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收藏

页码：575 / 577

页数：3

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