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Article

Substitution of arginine 219 by glycine compromises stability, dimerization, and catalytic activity in a G6PD mutant.

Communications biology - 9 Dec 2023

Zgheib Omar, Chamchoy Kamonwan, Nouspikel Thierry, Blouin Jean-Louis, Cimasoni Laurent, Quteineh Lina, Boonyuen Usa

Abstract excerpt

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies in humans, present in approximately half a billion people worldwide. More than 230 clinically relevant G6PD mutations of different classes have been reported to date. We hereby describe a patient with chronic hemolysis who presents a substitution of arginine by glycine at position 219 in G6PD protein. The variant was never...

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Identifiers

PMID: 38066190
DOI: 10.1038/s42003-023-05599-z
PMCID: PMC10709299

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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