New mutations in the AQP2 gene in nephrogenic diabetes insipidus resulting in functional but misrouted water channels

Autor: E.P. Leumann, E. Schober, Nine V A M Knoers, J.P.L. Rijss, Peter M.T. Deen, A.F. van Lieburg, L.A.H. Monnens, E. Wühl, C.H. van Os, S.M. Mulders

Publikováno v: Journal of the American Society of Nephrology, 8, 2, pp. 242-248
Journal of the American Society of Nephrology, 8, 242-248. Williams & wilkins
Journal of the American Society of Nephrology, 8, 242-248
Journal of the American Society of Nephrology, 8, pp. 242-248

Nephrogenic diabetes insipidus (NDI) is characterized by the inability of the kidney to concentrate urine in response to vasopressin. The autosomal recessive form of NDI is caused by mutations in the AQP2 gene, encoding the vasopressin-regulated wate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c881a81f1ac625fd81f2d052c2c78a39
https://hdl.handle.net/2066/257455

Importance of the mercury-sensitive cysteine on function and routing of AQP1 and AQP2 in oocytes

Autor: S.M. Mulders, Peter M.T. Deen, J.P.L. Rijss, Anita Hartog, R.J.M. Bindels, C.H. van Os

Publikováno v: American Journal of Physiology : Renal Physiology, 42, 3, pp. F451-F456
American Journal of Physiology : Renal Physiology, 42, F451-F456
American Journal of Physiology, 273, F451-F456
American Journal of Physiology, 273, pp. F451-F456
American Journal of Physiology, 273, 3, pp. F451-F456

To discriminate between water transport of of aquaporin-2 (AQP2) mutants in nephrogenic diabetes insipidus and that of an AQP2 molecule used to drag them to the oolemma, we investigated the mercury sensitivity of wild-type and AQP2 C181S proteins in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f6cee82a1b33fbef93d3c7dc09cdb3b
https://hdl.handle.net/2066/27846