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Article

Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.

JCI insight - 21 Dec 2017

Ferdaus Mohammed Z, Miller Lauren N, Agbor Larry N, Saritas Turgay, Singer Jeffrey D, Sigmund Curt D, McCormick James A

Abstract excerpt

Mutations in the ubiquitin ligase scaffold protein Cullin 3 (CUL3) cause the disease familial hyperkalemic hypertension (FHHt). In the kidney, mutant CUL3 (CUL3-Δ9) increases abundance of With-No-Lysine [K] Kinase 4 (WNK4), with excessive activation of the downstream Sterile 20 (STE20)/SPS-1-related proline/alanine-rich kinase (SPAK) increasing phosphorylation of the Na+-Cl- cotransporter (NCC). CUL3-Δ9 promotes...

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Source

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Identifiers

PMID: 29263298
DOI: 10.1172/jci.insight.96700
PMCID: PMC5752287

Genes

CUL3
WNK4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

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Mutant Cullin 3 causes familial hyperkalemic hypertension via dominant effects.PMID 29263298Read ↗

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Distal convoluted tubule-specific disruption of the COP9 signalosome but not its regulatory target cullin 3 causes tubular injury.Semantic proximity Read ↗

Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities.Semantic proximity Read ↗

Dual gain and loss of cullin 3 function mediates familial hyperkalemic hypertension.Semantic proximity Read ↗

Characterisation of the Cullin-3 mutation that causes a severe form of familial hypertension and hyperkalaemia.Semantic proximity Read ↗

Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.Semantic proximity Read ↗

Regulation of blood pressure and renal electrolyte balance by Cullin-RING ligases.Semantic proximity Read ↗

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Impaired degradation of WNK1 and WNK4 kinases causes PHAII in mutant KLHL3 knock-in mice.Semantic proximity Read ↗

ROMK expression remains unaltered in a mouse model of familial hyperkalemic hypertension caused by the CUL3Δ403-459 mutation.Semantic proximity Read ↗

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