Mutations in SEC63 cause autosomal dominant polycystic liver disease

Sonia Davila, Laszlo Furu, Ali G. Gharavi, Xin Tian, Tamehito Onoe, Qi Qian, Airong Li, Yiqiang Cai, Patrick S. Kamath, Bernard F. King, Pablo J. Azurmendi, Pia Tahvanainen, Helena Kääriäinen, Krister Höckerstedt, Olivier Devuyst, Yves Pirson, Rodolfo S. Martin, Richard P. Lifton, Esa Tahvanainen, Vicente E. TorresStefan Somlo

Research output: Contribution to journalArticle

180 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)575-577
Number of pages3
JournalNature Genetics
Volume36
Issue number6
DOIs
StatePublished - Jun 1 2004

ASJC Scopus subject areas

  • Genetics

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    Davila, S., Furu, L., Gharavi, A. G., Tian, X., Onoe, T., Qian, Q., Li, A., Cai, Y., Kamath, P. S., King, B. F., Azurmendi, P. J., Tahvanainen, P., Kääriäinen, H., Höckerstedt, K., Devuyst, O., Pirson, Y., Martin, R. S., Lifton, R. P., Tahvanainen, E., ... Somlo, S. (2004). Mutations in SEC63 cause autosomal dominant polycystic liver disease. Nature Genetics, 36(6), 575-577. https://doi.org/10.1038/ng1357