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

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 complexes. Bo...

Full description

Bibliographic Details
Main Authors: Schumacher, Frances-Rose, Siew, Keith, Zhang, Jinwei, Johnson, Clare, Wood, Nicola, Cleary, Sarah E, Al Maskari, Raya S, Ferryman, James T, Hardege, Iris, Figg, Nichola L, Enchev, Radoslav, Knebel, Axel, O’Shaughnessy, Kevin M, Kurz, Thimo
Format: Online
Language:English
Published: John Wiley & Sons, Ltd 2015
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604684/

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4604684/

Similar Items