A Novel Regulatory Defect in the Branched-Chain α-Keto Acid Dehydrogenase Complex Due to a Mutation in the PPM1K Gene Causes a Mild Variant Phenotype of Maple Syrup Urine Disease

Human Mutation

Volumn 34, Issue 2, 2013, Pages 355-362

  Oyarzabal, Alfonso ^a   Martínez Pardo, Mercedes ^b   Merinero, Begoña ^a   Navarrete, Rosa ^a   Desviat, Lourdes R ^a   Ugarte, Magdalena ^a   Rodríguez Pombo, Pilar ^a  

^a CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^b HOSPITAL RAMÓN Y CAJAL   (Spain)

Author keywords

MAP kinase; Maple syrup urine disease; PP2Cm phosphatase; PPM1K

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); PPM1K PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; APOPTOSIS; ARTICLE; CASE REPORT; CELL METABOLISM; CELL SURVIVAL; CHROMOSOME 4; FEMALE; FIBROBLAST; GENE MUTATION; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MAPLE SYRUP URINE DISEASE; NEWBORN SCREENING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN INTAKE; SINGLE NUCLEOTIDE POLYMORPHISM; WESTERN BLOTTING; WILD TYPE;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); APOPTOSIS; BLOTTING, WESTERN; CELL SURVIVAL; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GENE FREQUENCY; GENOTYPE; HUMANS; INFANT; ISOLEUCINE; LEUCINE; MAPLE SYRUP URINE DISEASE; MICROSCOPY, FLUORESCENCE; MUTATION; PHENOTYPE; PHOSPHOPROTEIN PHOSPHATASES; PYRUVATE DEHYDROGENASE COMPLEX; REACTIVE OXYGEN SPECIES; SEQUENCE ANALYSIS, DNA; SKIN;

ACER;

EID: 84873083880     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22242     Document Type: Article

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