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

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

Abstract Deletion of exon 9 from Cullin‐3 (CUL3, residues 403–459: CUL3Δ403–459) 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 comp...

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Main Authors: Frances‐Rose Schumacher, Keith Siew, Jinwei Zhang, Clare Johnson, Nicola Wood, Sarah E Cleary, Raya S Al Maskari, James T Ferryman, Iris Hardege, Yasmin, Nichola L Figg, Radoslav Enchev, Axel Knebel, Kevin M O'Shaughnessy, Thimo Kurz
Format: Article
Language:English
Published: Springer Nature 2015-08-01
Series:EMBO Molecular Medicine
Subjects:
cullin
CUL3
monogenic hypertension syndromes
proteasome
ubiquitin
WNK/SPAK/OSR1 pathway
Online Access:https://doi.org/10.15252/emmm.201505444
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