A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1822, Issue 6, 2012, Pages 1062-1069

  Assouline, Z ^a,b   Jambou, M ^a,b   Rio, M ^a,b   Bole Feysot, C ^b   de Lonlay, P ^a,b   Barnerias, C ^a,b   Desguerre, I ^a,b   Bonnemains, C ^c   Guillermet, C ^d   Steffann, J ^a,b   Munnich, A ^a,b   Bonnefont, J P ^a,b   Rotig A ^a,b   Lebre, A S ^a,b  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c CHU NANCY BRABOIS   (France)

^d HÔPITAL SAINT JACQUES   (France)

Author keywords

BN PAGE; Founder mutation; Leigh syndrome; Mitochondrial disorder; NDUFS4 gene; Respiratory chain complex I assembly

Indexed keywords

CITRATE SYNTHASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE);

ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COMPLEX I DEFICIENCY; ENZYME ACTIVITY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIAL GENE; NDUFS4 GENE; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RESPIRATORY CHAIN; SKIN FIBROBLAST;

BRAIN; CYCLIC AMP-DEPENDENT PROTEIN KINASES; ELECTRON TRANSPORT COMPLEX I; FEMALE; FIBROBLASTS; HUMANS; INFANT; LEIGH DISEASE; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION; NADH DEHYDROGENASE; PHOSPHORYLATION; SKIN;

EID: 84859359272     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.01.013     Document Type: Article

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