Article
Functionomics of NCC mutations in Gitelman syndrome using a novel mammalian cell-based activity assay.
American journal of physiology. Renal physiology - 1 Dec 2016
Valdez-Flores Marco A, Vargas-Poussou Rosa, Verkaart Sjoerd, Tutakhel Omar A Z, Valdez-Ortiz Angel, Blanchard Anne, Treard Cyrielle, Hoenderop Joost G J, Bindels René J M, Jeleń Sabina
Abstract excerpt
Gitelman syndrome (GS) is an autosomal recessive salt-wasting tubular disorder resulting from loss-of-function mutations in the thiazide-sensitive NaCl cotransporter (NCC). Functional analysis of these mutations has been limited to the use of Xenopus laevis oocytes. The aim of the present study was, therefore, to analyze the functional consequences of NCC mutations in a mammalian cell-based assay, followed by...
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