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http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2446| Título : | Functional and Biochemical Characterization of Three Recombinant Human Glucose-6-Phosphate Dehydrogenase Mutants: Zacatecas, Vanua-Lava and Viangchan |
| Creador: | Gómez Manzo, Saúl |
| Nivel de acceso: | Open access |
| Palabras clave : | Grupo de Ascendencia Continental Nativa Americana - genética Dominio Catalítico Clonación Molecular Biología Computacional - métodos Cristalografía por Rayos X Glucosafosfato Deshidrogenasa - química Glucosafosfato Deshidrogenasa - genétics Glucosafosfato Deshidrogenasa - metabolismo Deficiencia de Glucosafosfato Deshidrogenasa - genética Humanos Cinética México Modelos Moleculares Mutación Estabilidad Proteica Estructura Terciaria de Proteína Proteínas Recombinantes - química Proteínas Recombinantes - metabolismo American Native Continental Ancestry Group - genetics Catalytic Domain Cloning, Molecular Computational Biology - methods Crystallography, X-Ray Glucosephosphate Dehydrogenase - chemistry Glucosephosphate Dehydrogenase - genetics Glucosephosphate Dehydrogenase - metabolism Glucosephosphate Dehydrogenase Deficiency - genetics Humans Kinetics Mexico Models, Molecular Mutation Protein Stability Protein Structure, Tertiary Recombinant Proteins - chemistry Recombinant Proteins - metabolism deficiencia de glucosa-6-fosfato deshidrogenasa (G6PD); humanos mutantes de G6PD; cinética de estado estacionario; caracterización estructural; termoestabilidad glucose-6-phosphate dehydrogenase (G6PD) deficiency; human G6PD mutants; steady state kinetics; structural characterization; thermostability |
| Descripción : | Glucose-6-phosphate dehydrogenase (G6PD) deficiency in humans causes severe disease, varying from mostly asymptomatic individuals to patients showing neonatal jaundice, acute hemolysis episodes or chronic nonspherocytic hemolytic anemia. In order to understand the effect of the mutations in G6PD gene function and its relation with G6PD deficiency severity, we report the construction, cloning and expression as well as the detailed kinetic and stability characterization of three purified clinical variants of G6PD that present in the Mexican population: G6PD Zacatecas (Class I), Vanua-Lava (Class II) and Viangchan (Class II). For all the G6PD mutants, we obtained low purification yield and altered kinetic parameters compared withWild Type (WT). Our results show that the mutations, regardless of the distance from the active site where they are located, affect the catalytic properties and structural parameters and that these changes could be associated with the clinical presentation of the deficiency. Specifically, the structural characterization of the G6PD Zacatecas mutant suggests that the R257L mutation have a strong effect on the global stability of G6PD favoring an unstable active site. Using computational analysis, we offer a molecular explanation of the effects of these mutations on the active site. © 2016 by the authors; licensee MDPI, Basel, Switzerland. |
| Colaborador(es) u otros Autores: | Marcial-Quino J Vanoye-Carlo America Serrano-Posada H González-Valdez A Martínez-Rosas V Hernández-Ochoa B Sierra-Palacios E Castillo-Rodríguez Ra Cuevas-Cruz M Rodríguez-Bustamante E Arreguin-Espinosa R |
| Fecha de publicación : | 2016 |
| Tipo de publicación: | Artículo |
| Formato: | |
| Identificador del Recurso : | 10.3390/ijms17050787 |
| Fuente: | International Journal of Molecular Sciences 17(5):1 - 18 |
| URI : | http://repositorio.pediatria.gob.mx:8180/handle/20.500.12103/2446 |
| Idioma: | eng |
| Aparece en las colecciones: | Artículos |
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