Regular ArticleChronic non-spherocytic haemolytic disorders associated with glucose-6-phosphate dehydrogenase variants
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Glucose-6-Phosphate Dehydrogenase Deficiency
2016, Hematology/Oncology Clinics of North AmericaCitation Excerpt :For the rare cases of CNSHA that are associated with G6PD deficiency, the management is different from that discussed previously; it is more similar to that of CNSHA related to other causes (eg, hereditary spherocytosis and pyruvate kinase deficiency). This specialized topic is discussed in other reviews.15,78 Knocking out G6PD in mouse embryonic stem cells revealed that the cells were viable, but transfer into blastocysts has proved that a G6PD-null mutation is lethal in embryonic life24; this explains why G6PD-null mutations are never found in humans and also proves conclusively that the irreplaceable function of G6PD is not pentose synthesis but defense against oxidative stress.79,80
Dual anti-platelet therapy in patients with G6PD deficiency after percutaneous coronary intervention
2013, International Journal of CardiologyG6PD Deficiency. Global Distribution, Genetic Variants and Primaquine Therapy
2013, Advances in ParasitologyCitation Excerpt :For example, many of the most severe mutations map to exon 10 (Mehta et al., 2000) which encodes the binding interface of the subunits and therefore disrupt its quaternary structure and stability. These mutations cause the most severe clinical symptoms and as such do not reach polymorphic frequencies; instead they usually result from independent spontaneous mutations (Fiorelli et al., 2000). Mutations which do not cause such severe reductions in enzyme activity are widely distributed across the gene’s coding region and throughout the enzyme structure (Fig. 4.2), and have been found to reduce the efficacy of protein folding, for example (Gomez-Gallego et al. (1996)).
An Overall View of the Functional and Structural Characterization of Glucose-6-Phosphate Dehydrogenase Variants in the Mexican Population
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