Article
Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice.
Human molecular genetics - 1 Oct 2014
Susa Koichiro, Sohara Eisei, Rai Tatemitsu, Zeniya Moko, Mori Yutaro, Mori Takayasu, Chiga Motoko, Nomura Naohiro, Nishida Hidenori, Takahashi Daiei, Isobe Kiyoshi, Inoue Yuichi, Takeishi Kenta, Takeda Naoki, Sasaki Sei, Uchida Shinichi
Abstract excerpt
Pseudohypoaldosteronism type II (PHAII) is a hereditary disease characterized by salt-sensitive hypertension, hyperkalemia and metabolic acidosis, and genes encoding with-no-lysine kinase 1 (WNK1) and WNK4 kinases are known to be responsible. Recently, Kelch-like 3 (KLHL3) and Cullin3, components of KLHL3-Cullin3 E3 ligase, were newly identified as responsible for PHAII. We have reported that WNK4 is the...
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