Coupling between Protein Stability and Catalytic Activity Determines Pathogenicity of G6PD Variants.

Cunningham, Anna D; Colavin, Alexandre; Huang, Kerwyn Casey; Mochly-Rosen, Daria

Cunningham, Anna D; Colavin, Alexandre; Huang, Kerwyn Casey; Mochly-Rosen, Daria.

Afiliación

Cunningham AD; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Colavin A; Biophysics Program, Stanford University, Stanford, CA 94305, USA.
Huang KC; Biophysics Program, Stanford University, Stanford, CA 94305, USA; Department of Bioengineering, Stanford University, Stanford, CA 94305, USA; Department of Microbiology and Immunology, Stanford University School of Medicine, Stanford, CA 94305, USA.
Mochly-Rosen D; Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA 94305, USA. Electronic address: mochly@stanford.edu.

Cell Rep ; 18(11): 2592-2599, 2017 03 14.

Article en En | MEDLINE | ID: mdl-28297664

Asunto(s)

Biocatálisis; Glucosafosfato Deshidrogenasa/genética; Glucosafosfato Deshidrogenasa/metabolismo; Mutación/genética; Sustitución de Aminoácidos; Bases de Datos de Proteínas; Glucosafosfato Deshidrogenasa/química; Humanos; Modelos Moleculares; Análisis de Componente Principal; Estabilidad Proteica

Palabras clave

ExAC database; G6PD; G6PD deficiency; PCA; VUS; enzyme activity; enzymopathy; missense variants; protein stability; variants of unknown significance

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Biocatálisis / Glucosafosfato Deshidrogenasa / Mutación Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Revista: Cell Rep Año: 2017 Tipo del documento: Article País de afiliación: Estados Unidos

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