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Familial cases of pseudohypoaldosteronism type II harboring a novel mutation in the Cullin 3 gene.

Nephrology (Carlton, Vic.) - 1 Nov 2020

Nakano Kiyoshi, Kubota Yasuo, Mori Takayuki, Chiga Motoko, Mori Takayasu, Sonoda Shyunya, Ueda Daisuke, Asakura Isao, Ikegaya Takeshi, Kagawa Jiro, Uchida Shinichi, Kubota Akira

Abstract excerpt

Pseudohypoaldosteronism type II (PHA II) is inherited in an autosomal dominant manner and is characterized by hypertension, hyperkalemia, and hyperchloremic metabolic acidosis. The enhancement of with-no-lysine kinase (WNK) functions is correlated to the pathogenesis of the condition. Cullin 3 (CUL3) forms an E3 ubiquitin ligase complex, and it can ubiquitinate WNK. Most CUL3 gene mutations are distributed in...

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PMID: 32619053
DOI: 10.1111/nep.13752

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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