Riboflavin-responsive oxidative phosphorylation complex i deficiency caused by defective ACAD9: New function for an old gene

Brain

Volumn 134, Issue 1, 2011, Pages 210-219

  Gerards, Mike ^a   Van Den Bosch, Bianca J C ^a   Danhauser, Katharina ^b,c   Serre, Valérie ^d   Van Weeghel, Michel ^a   Wanders, Ronald J A ^e   Nicolaes, Gerry A F ^f   Sluiter, Wim ^g   Schoonderwoerd, Kees ^g   Scholte, Hans R ^g   Prokisch, Holger ^b,c   Rötig, Agns ^d   De Coo, Irenaeus F M ^g   Smeets, Hubert J M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITY OF AMSTERDAM   (Netherlands)

^f MAASTRICHT UNIVERSITY   (Netherlands)

^g ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

ACAD9; oxidative phosphorylation; riboflavin

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ARGININE; GLUTAMINE; RIBOFLAVIN; TRYPTOPHAN;

ALPHA HELIX; AMINO ACID SUBSTITUTION; ARTICLE; CELL PROLIFERATION; CHROMOSOME; CHROMOSOME MAP; CLINICAL ARTICLE; CONTROLLED STUDY; FATIGUE; FEMALE; FIBROBLAST; GENE FUNCTION; GENE MUTATION; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HYDROGEN BOND; LACTIC ACIDOSIS; MALE; MUTANT; NUCLEOTIDE SEQUENCE; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STRUCTURE; RIBOFLAVIN DEFICIENCY; RIBOFLAVIN RESPONSIVE OXIDATIVE PHOSPHORYLATION COMPLEX I DEFICIENCY; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; TREATMENT RESPONSE;

ACYL-COA DEHYDROGENASES; ELECTRON TRANSPORT COMPLEX I; EXERCISE; GENOTYPE; HOMOZYGOTE; HUMANS; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; PEDIGREE; PHENOTYPE; RIBOFLAVIN;

EID: 78650693584     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awq273     Document Type: Article

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