Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene.

@article{Kleymenova2001TuberindependentML,
  title={Tuberin-dependent membrane localization of polycystin-1: a functional link between polycystic kidney disease and the TSC2 tumor suppressor gene.},
  author={Elena V Kleymenova and Oxana Ibraghimov-Beskrovnaya and Hiroyuki Kugoh and Jeff Everitt and Hong Xu and Kazushige Kiguchi and Gregory M Landes and Peter Harris and Carol Walker},
  journal={Molecular cell},
  year={2001},
  volume={7 4},
  pages={823-32}
}
The PKD1 gene accounts for 85% of autosomal dominant polycystic kidney disease (ADPKD), the most common human genetic disorder. Rats with a germline inactivation of one allele of the Tsc2 tumor suppressor gene developed early onset severe bilateral polycystic kidney disease, with similarities to the human contiguous gene syndrome caused by germline codeletion of PKD1 and TSC2 genes. Polycystic rat renal cells retained two normal Pkd1 alleles but were null for Tsc2 and exhibited loss of lateral… CONTINUE READING
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