Article
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
Human molecular genetics - 15 Dec 2004
de Mattia Fabrizio, Savelkoul Paul J M, Bichet Daniel G, Kamsteeg Erik-Jan, Konings Irene B M, Marr Nannette, Arthus Marie-Françoise, Lonergan Michèle, van Os Carel H, van der Sluijs Peter, Robertson Gary, Deen Peter M T
Abstract excerpt
Vasopressin regulates water homeostasis through insertion of homotetrameric aquaporin-2 (AQP2) water channels in the apical plasma membrane of renal cells. AQP2 mutations cause recessive and dominant nephrogenic diabetes insipidus (NDI), a disease in which the kidney is unable to concentrate urine in response to vasopressin. Until now, all AQP2 mutants in recessive NDI were shown to be misfolded, retained in the...
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