Article
NKCC2 activity is inhibited by the Bartter's syndrome type 5 gain-of-function CaR-A843E mutant in renal cells.
Biology of the cell - 1 Apr 2015
Carmosino Monica, Gerbino Andrea, Hendy Geoffrey N, Torretta Silvia, Rizzo Federica, Debellis Lucantonio, Procino Giuseppe, Svelto Maria
Abstract excerpt
BACKGROUND INFORMATION: The gain-of-function A843E mutation of the calcium sensing receptor (CaR) causes Bartter syndrome type 5. Patients carrying this CaR variant show a remarkably reduced renal NaCl reabsorption in the thick ascending limb (TAL) of Henle's loop resulting in renal loss of NaCl in the absence of mutations in renal Na(+) and Cl(-) ion transporters. The molecular mechanisms underlying this...
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