Por favor, use este identificador para citar o enlazar este ítem: 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: pdf
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
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