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

Abstract 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 wit...

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Bibliographic Details
Main Authors: Omar Zgheib, Kamonwan Chamchoy, Thierry Nouspikel, Jean-Louis Blouin, Laurent Cimasoni, Lina Quteineh, Usa Boonyuen
Format: Article
Language:English
Published: Nature Portfolio 2023-12-01
Series:Communications Biology
Online Access:https://doi.org/10.1038/s42003-023-05599-z