PMID: 9550615Apr 29, 1998Paper

Aquaporin-2, a vasopressin-sensitive water channel, and nephrogenic diabetes insipidus

Internal Medicine
M Kuwahara

Abstract

Two cases of autosomal recessive nephrogenic diabetes insipidus (NDI) were evaluated. Both cases were found to be compound heterozygote for missense mutations in the aquaporin-2 (AQP2) gene. To determine the structural-functional relationship, the mutated AQP2 proteins, T125M, G175R, A190T, and P262L, were expressed in Xenopus oocytes and examined by measurement of water permeability, immunoblot, and immunocytochemistry. Our results suggest that T125M and G175R are nonfunctional water channels, whereas the translocation to the plasma membrane is impaired in A190T and P262L.

Citations

Nov 28, 2007·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Zelal BircanHae Ii Cheong
Feb 22, 2001·Annual Review of Physiology·J P Morello, D G Bichet
Jul 1, 2008·Indian Journal of Nephrology·S K Agarwal, A Gupta
May 10, 2016·Best Practice & Research. Clinical Endocrinology & Metabolism·Daniel G Bichet, Detlef Bockenhauer
Jun 4, 2008·Seminars in Nephrology·Anne J M LoonenPeter M T Deen
Jul 17, 2015·Computational and Mathematical Methods in Medicine·Steffen Grunert, Dirk Labudde
Jul 11, 2006·American Journal of Physiology. Renal Physiology·Joris H RobbenPeter M T Deen
Jul 15, 2016·American Journal of Physiology. Renal Physiology·Ying SunZhanjun Jia
May 26, 2018·International Journal of Molecular Sciences·Luisa CalvaneseRomina Oliva

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