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Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.

EMBO Mol Med. 2015; 
SchumacherFrances-Rose,SiewKeith,ZhangJinwei,JohnsonClare,WoodNicola,ClearySarah E,Al MaskariRaya S,FerrymanJames T,HardegeIris,Yasmin,FiggNichola L,EnchevRadoslav,KnebelAxel,O'ShaughnessyKevin M,KurzT
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摘要

Deletion of exon 9 from Cullin-3 (CUL3, residues 403-459: CUL3(Δ403-459)) causes pseudohypoaldosteronism type IIE (PHA2E), a severe form of familial hyperkalaemia and hypertension (FHHt). CUL3 binds the RING protein RBX1 and various substrate adaptors to form Cullin-RING-ubiquitin-ligase complexes. Bound to KLHL3, CUL3-RBX1 ubiquitylates WNK kinases, promoting their ubiquitin-mediated proteasomal degradation. Since WNK kinases activate Na/Cl co-transporters to promote salt retention, CUL3 regulates blood pressure. Mutations in both KLHL3 and WNK kinases cause PHA2 by disrupting Cullin-RING-ligase formation. We report here that the PHA2E mutant, CUL3(Δ403-459), is severely compromised in its abil... More

关键词

CUL3,WNK/SPAK/OSR1 pathway,cullin,monogenic hypertension syndromes,proteasome,ubiqu