Article
KLHL3 Knockout Mice Reveal the Physiological Role of KLHL3 and the Pathophysiology of Pseudohypoaldosteronism Type II Caused by Mutant KLHL3.
Molecular and cellular biology - 1 Apr 2017
Sasaki Emi, Susa Koichiro, Mori Takayasu, Isobe Kiyoshi, Araki Yuya, Inoue Yuichi, Yoshizaki Yuki, Ando Fumiaki, Mori Yutaro, Mandai Shintaro, Zeniya Moko, Takahashi Daiei, Nomura Naohiro, Rai Tatemitsu, Uchida Shinichi, Sohara Eisei
Abstract excerpt
Mutations in the with-no-lysine kinase 1 (WNK1), WNK4, kelch-like 3 (KLHL3), and cullin3 (CUL3) genes are known to cause the hereditary disease pseudohypoaldosteronism type II (PHAII). It was recently demonstrated that this results from the defective degradation of WNK1 and WNK4 by the KLHL3/CUL3 ubiquitin ligase complex. However, the other physiological in vivo roles of KLHL3 remain unclear. Therefore, here we...
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