Display Settings:

Format

Send to:

Choose Destination
See comment in PubMed Commons below
Trends Mol Med. 2005 Jan;11(1):37-42.

Polycystic liver disease is a disorder of cotranslational protein processing.

Author information

  • 1The Department of Medicine, Division of Gastroenterology and Hepatology, University Medical Center St. Radboud, 6500 HB Nijmegen, The Netherlands. JoostPHDrenth@CS.com

Abstract

Autosomal-dominant polycystic liver disease (PCLD) is a rare disorder that is characterized by the progressive development of fluid-filled biliary epithelial cysts in the liver. Positional cloning has identified two genes that are mutated in patients with polycystic liver disease, PRKCSH and SEC63, which encode the beta-subunit of glucosidase II and Sec63, respectively. Both proteins are components of the molecular machinery involved in the translocation, folding and quality control of newly synthesized glycoproteins in the endoplasmic reticulum. Most mutations are truncating and probably lead to a complete loss of the corresponding proteins and the defective processing of a key regulator of biliary cell growth. The finding that PCLD is caused by proteins involved in oligosaccharide processing was unexpected and implicates a new avenue for research into neocystogenesis, and might ultimately result in the identification of novel therapeutic drugs.

PMID:
15649821
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Elsevier Science
    Loading ...
    Write to the Help Desk