Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins.
Disease-causing mutant WNK4 increases paracellular chloride permeability and phosphorylates claudins.
K. Yamauchi,T. Rai,7 Authors,S. Uchida
2004 · DOI: 10.1073/PNAS.0306924101
Proceedings of the National Academy of Sciences of the United States of America · 273 Citations
TLDR
Results clearly indicate that the pathogenic WNK4 mutant possesses a gain-of-function activity and that the claudins may be important molecular targets of WNK2 kinase, and the increased paracellular "chloride shunt" caused by the mutant W NK4 could be the pathogen mechanism of PHAII.