Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 731-740

  Gallego Villar, Lorena ^a   Pérez Cerdá, Celia ^a   Pérez, Belén ^a   Abia, David ^b   Ugarte, Magdalena ^a   Richard, Eva ^a   Desviat, Lourdes R ^a,c  

^a CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^b CSIC   (Spain)

^c UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

MITOGEN ACTIVATED PROTEIN KINASE P38; PROPIONYL COENZYME A CARBOXYLASE; STRESS ACTIVATED PROTEIN KINASE;

APOPTOSIS; ARTICLE; BINDING SITE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CRYSTAL STRUCTURE; ENZYME ACTIVE SITE; FIBROBLAST; FRAMESHIFT MUTATION; GENE; GENETIC ANALYSIS; GENETIC VARIABILITY; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; OXIDATIVE STRESS; PATHOPHYSIOLOGY; PCCA GENE; PCCB GENE; PHENOTYPE; POINT MUTATION; PROPIONIC ACIDEMIA; SEQUENCE HOMOLOGY; SIGNAL TRANSDUCTION;

APOPTOSIS; FIBROBLASTS; GENETIC ASSOCIATION STUDIES; GENOTYPE; HUMANS; MAP KINASE SIGNALING SYSTEM; MITOCHONDRIA; MUTATION, MISSENSE; OXIDATIVE STRESS; POINT MUTATION; PROPIONIC ACIDEMIA; REACTIVE OXYGEN SPECIES;

EID: 84884349939     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9545-3     Document Type: Article

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