Life and death of the distal nephron: WNK4 and NCC as major players.
Missense mutations in the WNK4 gene lead to the development of familial hyperkalemic hypertension, a rare form of human hypertension. It was shown in vitro that WNK4 regulates the surface expression and activity of a number of ion channels and transporters. The in vivo analysis of wild-type and mutant WNK4 overexpression in transgenic mice models demonstrated that this serine-threonine kinase controls ion handling in the kidney mainly, and probably exclusively, through the regulation of the Na-Cl contransporter NCC activity.
Hadchouel
Juliette
J
INSERM Unit 772, Collège de France, Faculté de Médecine Paris-Descartes, Paris, France.
Jeunemaitre
Xavier
X
D000818:Animals; D017209:Apoptosis; D005786:Gene Expression Regulation; D006801:Humans; D017136:Ion Transport; D007686:Kidney Tubules, Distal / Q000378:metabolism* / Q000503:physiopathology; D051379:Mice; D008954:Models, Biological; D009154:Mutation; D017346:Protein Serine-Threonine Kinases / Q000235:genetics* / Q000494:pharmacology / Q000502:physiology*; D049992:Sodium Chloride Symporters / Q000187:drug effects / Q000502:physiology*
D049992:Sodium Chloride Symporters; D017346:Protein Serine-Threonine Kinases; C433806:WNK4 protein, human