Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.

doi:10.1172/JCI94171

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Article

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.

The Journal of clinical investigation - 1 Dec 2020

Louis-Dit-Picard Hélène, Kouranti Ilektra, Rafael Chloé, Loisel-Ferreira Irmine, Chavez-Canales Maria, Abdel-Khalek Waed, Argaiz Eduardo R, Baron Stéphanie, Vacle Sarah, Migeon Tiffany, Coleman Richard, Do Cruzeiro Marcio, Hureaux Marguerite, Thurairajasingam Nirubiah, Decramer Stéphane, Girerd Xavier, O'Shaugnessy Kevin, Mulatero Paolo, Roussey Gwenaëlle, Tack Ivan, Unwin Robert, Vargas-Poussou Rosa, Staub Olivier, Grimm Richard, Welling Paul A, Gamba Gerardo, Clauser Eric, Hadchouel Juliette, Jeunemaitre Xavier

Abstract excerpt

Gain-of-function mutations in with no lysine (K) 1 (WNK1) and WNK4 genes are responsible for familial hyperkalemic hypertension (FHHt), a rare, inherited disorder characterized by arterial hypertension and hyperkalemia with metabolic acidosis. More recently, FHHt-causing mutations in the Kelch-like 3-Cullin 3 (KLHL3-CUL3) E3 ubiquitin ligase complex have shed light on the importance of WNK's cellular degradation...

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PMID: 32790646
DOI: 10.1172/JCI94171
PMCID: PMC7685730

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