Article
Mutations of Glucose-6-Phosphate Dehydrogenase Durham, Santa-Maria and A+ Variants Are Associated with Loss Functional and Structural Stability of the Protein.
International journal of molecular sciences - 2 Dec 2015
Gómez-Manzo Saúl, Marcial-Quino Jaime, Vanoye-Carlo America, Enríquez-Flores Sergio, De la Mora-De la Mora Ignacio, González-Valdez Abigail, García-Torres Itzhel, Martínez-Rosas Víctor, Sierra-Palacios Edgar, Lazcano-Pérez Fernando, Rodríguez-Bustamante Eduardo, Arreguin-Espinosa Roberto
Abstract excerpt
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy in the world. More than 160 mutations causing the disease have been identified, but only 10% of these variants have been studied at biochemical and biophysical levels. In this study we report on the functional and structural characterization of three naturally occurring variants corresponding to different classes of disease...
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