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Article

Deficiency in PHD2-mediated hydroxylation of HIF2α underlies Pacak-Zhuang syndrome.

Communications biology - 28 Feb 2024

Ferens Fraser G, Taber Cassandra C, Stuart Sarah, Hubert Mia, Tarade Daniel, Lee Jeffrey E, Ohh Michael

Abstract excerpt

Pacak-Zhuang syndrome is caused by mutations in the EPAS1 gene, which encodes for one of the three hypoxia-inducible factor alpha (HIFα) paralogs HIF2α and is associated with defined but varied phenotypic presentations including neuroendocrine tumors and polycythemia. However, the mechanisms underlying the complex genotype-phenotype correlations remain incompletely understood. Here, we devised a quantitative...

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Share to Adrenal and Paraganglionic Tumors
Share to Cancer, Hypoxia, and Metabolism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mitochondrial Function and Pathology

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Identifiers

PMID: 38418569
DOI: 10.1038/s42003-024-05904-4
PMCID: PMC10902354

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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