Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency.

@article{GmezGallego2000StructuralDU,
  title={Structural defects underlying protein dysfunction in human glucose-6-phosphate dehydrogenase A(-) deficiency.},
  author={F{\'e}lix G{\'o}mez-Gallego and Amando Garrido-Pertierra and Jos{\'e} Mar{\'i}a Bautista},
  journal={The Journal of biological chemistry},
  year={2000},
  volume={275 13},
  pages={9256-62}
}
The enzyme variant glucose-6-phosphate dehydrogenase (G6PD) A(-), which gives rise to human glucose-6-phosphate dehydrogenase deficiency, is a protein of markedly reduced structural stability. This variant differs from the normal enzyme, G6PD B, in two amino acid substitutions. A further nondeficient variant, G6PD A, bears only one of these two mutations and is structurally stable. In this study, the synergistic structural defect in recombinant G6PD A(-) was reflected by reduced unfolding… CONTINUE READING

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