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

EMBO Molecular Medicine

Volumn 7, Issue 10, 2015, Pages 1285-1306

  Schumacher, Frances Rose ^a,e   Siew, Keith ^b   Zhang, Jinwei ^a   Johnson, Clare ^a   Wood, Nicola ^a   Cleary, Sarah E ^b   Al Maskari, Raya S ^b   Ferryman, James T ^b   Hardege, Iris ^b   Yasmin, ^b   Figg, Nichola L ^c   Enchev, Radoslav ^d   Knebel, Axel ^a   O'Shaughnessy, Kevin M ^b   Kurz, Thimo ^a  

^a UNIVERSITY OF DUNDEE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d ETH ZURICH   (Switzerland)

^e GENENTECH INC   (United States)

Author keywords

CUL3; Cullin; Monogenic hypertension syndromes; Proteasome; Ubiquitin; WNK SPAK OSR1 pathway

Indexed keywords

ADAPTOR PROTEIN; CAND1 PROTEIN; COP9 SIGNALOSOME; CULLIN; CULLIN 3; CULLIN RING LIGASE; KLHL3 PROTEIN; LIGASE; NEDD8 PROTEIN; PROTEIN KINASE; PROTEIN KINASE WNK1; PROTEIN KINASE WNK4; REGULATOR PROTEIN; SPS1 RELATED PROLINE ALANINE RICH KINASE; UNCLASSIFIED DRUG; CUL3 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE; SIGNAL PEPTIDE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTERIAL WALL THICKENING; ARTICLE; CONTROLLED STUDY; ELECTROLYTE DISTURBANCE; ENZYME ACTIVITY; FAMILIAL HYPERKALEMIA AND HYPERTENSION; FEMALE; GENE MUTATION; HEREDITARY HYPERTENSION; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERKALEMIA; KIDNEY DISTAL TUBULE; MALE; MOUSE; MOUSE MODEL; NONHUMAN; PRIORITY JOURNAL; PROTEIN STRUCTURE; PULSE WAVE; UBIQUITINATION; ANIMAL; DISEASE MODEL; GENETICS; HEK293 CELL LINE; KNOCKOUT MOUSE; METABOLISM; MUTATION; PATHOPHYSIOLOGY; PSEUDOHYPOALDOSTERONISM;

ANIMALS; CULLIN PROTEINS; DISEASE MODELS, ANIMAL; HEK293 CELLS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MICE, KNOCKOUT; MUTATION; PROTEIN-SERINE-THREONINE KINASES; PSEUDOHYPOALDOSTERONISM;

EID: 84942831685     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.15252/emmm.201505444     Document Type: Article

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