A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria

Proceedings of the National Academy of Sciences of the United States of America

Volumn 101, Issue 48, 2004, Pages 16849-16854

  Rzem, Rim ^a   Veiga Da Cunha, Maria ^a   Noël, Gaëtane ^a   Goffette, Sophie ^b   Nassogne, Marie Cécile ^b   Tabarki, Brahim ^c   Schöller, Christina ^d   Marquardt, Thorsten ^d   Vikkula, Miikka ^a   Van Schaftingen, Emile ^a  

^a DE DUVE INSTITUTE   (Belgium)

^b CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^c FARHAT HACHED HOSPITAL   (Tunisia)

^d UNIVERSITY HOSPITAL MÜNSTER   (Germany)

Author keywords

Ataxia; Inborn error of metabolism; Leukoencephalopathy

Indexed keywords

2 OXOGLUTARIC ACID; FLAVINE ADENINE NUCLEOTIDE; GLUTAMINE; LYSINE; MALATE DEHYDROGENASE; OXIDOREDUCTASE;

ADULT; ARTICLE; BRAIN TISSUE; CATALYSIS; CELL FRACTIONATION; CELL MEMBRANE; CHILD; CHROMOSOME 14Q; CONSANGUINITY; DATA BASE; ENZYME ACTIVITY; EXON; FAMILY; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; HOMOZYGOSITY; HUMAN; HYDROXYGLUTARIC ACIDURIA; INFORMATION; KIDNEY PARENCHYMA; LIVER; MALE; METABOLIC DISORDER; MITOCHONDRION; OXIDATION; PRIORITY JOURNAL; PROTEIN BINDING;

ALCOHOL OXIDOREDUCTASES; AMINO ACID SEQUENCE; FEMALE; FLAVIN-ADENINE DINUCLEOTIDE; GLUTARATES; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; SEQUENCE HOMOLOGY, AMINO ACID; SUBCELLULAR FRACTIONS;

BACTERIA (MICROORGANISMS); MAMMALIA;

EID: 10044239247     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.0404840101     Document Type: Article

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