Ontology highlight
ABSTRACT:
SUBMITTER: Shillingford JM
PROVIDER: S-EPMC1459378 | biostudies-literature | 2006 Apr
REPOSITORIES: biostudies-literature
Shillingford Jonathan M JM Murcia Noel S NS Larson Claire H CH Low Seng Hui SH Hedgepeth Ryan R Brown Nicole N Flask Chris A CA Novick Andrew C AC Goldfarb David A DA Kramer-Zucker Albrecht A Walz Gerd G Piontek Klaus B KB Germino Gregory G GG Weimbs Thomas T
Proceedings of the National Academy of Sciences of the United States of America 20060327 14
Autosomal-dominant polycystic kidney disease (ADPKD) is a common genetic disorder that frequently leads to renal failure. Mutations in polycystin-1 (PC1) underlie most cases of ADPKD, but the function of PC1 has remained poorly understood. No preventive treatment for this disease is available. Here, we show that the cytoplasmic tail of PC1 interacts with tuberin, and the mTOR pathway is inappropriately activated in cyst-lining epithelial cells in human ADPKD patients and mouse models. Rapamycin, ...[more]