Trends in Genetics
ReviewThe molecular basis of glucose-6-phosphate dehydrogenase deficiency
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Cited by (128)
Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway
2020, Molecular Genetics and MetabolismCitation Excerpt :Depending on the demands of the cell, the metabolites of the non-oxidative portion can reversibly be directed to form the glycolytic intermediates, glyceraldehyde 3-phosphate and fructose 6-phosphate, catalyzed by the enzymes transketolase (TKT) and transaldolase (TALDO). The clinical importance of the PPP has until recently centered around glucose 6-phosphate dehydrogenase (G6PD) deficiency (OMIM: 305900), a condition that affects hundreds of millions worldwide with potentially life-threatening hemolysis secondary to NADPH depletion [5,23,27]. Enzymatic deficiencies in the remainder of the PPP, particularly those involved in the non-oxidative branch, are far less common and less well understood.
On the Allosteric Effect of nsSNPs and the Emerging Importance of Allosteric Polymorphism
2019, Journal of Molecular BiologyDetailed functional analysis of two clinical glucose-6-phosphate dehydrogenase (G6PD) variants, G6PD<inf>Viangchan</inf> and G6PD<inf>Viangchan + Mahidol</inf>: Decreased stability and catalytic efficiency contribute to the clinical phenotype
2016, Molecular Genetics and MetabolismCitation Excerpt :Glucose-6-phosphate dehydrogenase (G6PD, E.C. 1.1.1.49) is a metabolic enzyme that catalyzes the oxidation of glucose-6-phosphate (G6P) to 6-phosphogluconolactone, a key step in the pentose phosphate pathway, and produces the reduced form of nicotinamide adenine dinucleotide phosphate (NADPH). NADPH is necessary for protection of the cells against oxidative stress [1–3]. It is particularly important in red blood cells where G6PD activity is the only source of NADPH and where lacking a nucleus no new G6PD can be synthesized.
Is it accurate to separate glucose-6-phosphate dehydrogenase activity in neonatal hyperbilirubinemia as deficient and normal?
2014, Pediatrics and Neonatology