Characterisation of the Cullin‐3 mutation that causes a severe form of familial hypertension and hyperkalaemia - 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; et al. (EMBO molecular medicine, 2015)
Keywords: Adaptor proteins; Animal models; Animals; Blood pressure; CUL3; Cullin; Cullin Proteins - genetics; Cullin Proteins - metabolism; Disease Models, Animal; Electrolytes; EMBO16; EMBO31; EMBO45; Gene deletion; Genotype & phenotype; HEK293 Cells; Human subjects; Humans; Hypertension; Intracellular Signaling Peptides and Proteins - metabolism; Kinases; Mice; Mice, Knockout; monogenic hypertension syndromes; Mutation; Phenotypes; proteasome; Proteasomes; Protein Serine-Threonine Kinases - metabolism; Proteins; Pseudohypoaldosteronism; Pseudohypoaldosteronism - genetics; Pseudohypoaldosteronism - metabolism; Pseudohypoaldosteronism - physiopathology; Research Article; Ubiquitin; Ubiquitin-protein ligase; WNK/SPAK/OSR1 pathway; proteasome; cullin; CUL3; monogenic hypertension syndromes; ubiquitin; WNK/SPAK/OSR1 pathway