Article
Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus.
Journal of the American Society of Nephrology : JASN - 1 Oct 2005
de Mattia Fabrizio, Savelkoul Paul J M, Kamsteeg Erik-Jan, Konings Irene B M, van der Sluijs Peter, Mallmann Rudolf, Oksche Alexander, Deen Peter M T
Abstract excerpt
Water homeostasis in humans is regulated by vasopressin, which induces the translocation of homotetrameric aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical membrane of renal principal cells. For this process, phosphorylation of AQP2 at S256 by cAMP-dependent protein kinase A is thought to be essential. Mutations in the AQP2 gene cause recessive and dominant nephrogenic diabetes...
Topics
- Aquaporin 2
- Arginine Vasopressin
- Cells, Cultured
- Child
- Diabetes Insipidus, Nephrogenic
- Humans
- Male
- Mutation
- Oocytes
- Pedigree
- Phosphorylation