Article
Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.
EMBO molecular medicine - 1 Oct 2015
Schumacher Frances-Rose, Siew Keith, Zhang Jinwei, Johnson Clare, Wood Nicola, Cleary Sarah E, Al Maskari Raya S, Ferryman James T, Hardege Iris, Yasmin, Figg Nichola L, Enchev Radoslav, Knebel Axel, O'Shaughnessy Kevin M, Kurz Thimo
Abstract excerpt
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....
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