Article
Severe metabolic acidosis causes early lethality in NBC1 W516X knock-in mice as a model of human isolated proximal renal tubular acidosis.
Kidney international - 1 Apr 2011
Lo Yi-Fen, Yang Sung-Sun, Seki George, Yamada Hideomi, Horita Shoko, Yamazaki Osamu, Fujita Toshiro, Usui Tomohiko, Tsai Jeng-Daw, Yu I-Shing, Lin Shu-Wha, Lin Shih-Hua
Abstract excerpt
We have identified a novel homozygous nonsense mutation (W516X) in the kidney-type electrogenic sodium bicarbonate cotransporter 1 (NBC1) in a patient with isolated proximal renal tubular acidosis (pRTA). To specifically address the pathogenesis of this mutation, we created NBC1 W516X knock-in mice to match the patient's abnormalities. The expression of NBC1 mRNA and protein in the kidneys of NBC1(W516X/W516X)...
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