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

Assouline, Z; Jambou, M; Rio, M; Bole-Feysot, C; de Lonlay, P; Barnerias, C; Desguerre, I; Bonnemains, C; Guillermet, C; Steffann, J; Munnich, A; Bonnefont, J P; Rötig, A; Lebre, A S

Assouline, Z; Jambou, M; Rio, M; Bole-Feysot, C; de Lonlay, P; Barnerias, C; Desguerre, I; Bonnemains, C; Guillermet, C; Steffann, J; Munnich, A; Bonnefont, J P; Rötig, A; Lebre, A S.

Affiliation

Assouline Z; Université Paris Descartes, Paris, France.

Biochim Biophys Acta ; 1822(6): 1062-9, 2012 Jun.

Article in En | MEDLINE | ID: mdl-22326555

Subject(s)

Electron Transport Complex I/genetics; Leigh Disease/genetics; Mitochondrial Diseases/genetics; NADH Dehydrogenase/genetics; Brain/pathology; Cyclic AMP-Dependent Protein Kinases/metabolism; Electron Transport Complex I/deficiency; Electron Transport Complex I/metabolism; Female; Fibroblasts/metabolism; Humans; Infant; Leigh Disease/metabolism; Leigh Disease/pathology; Male; Mitochondria/genetics; Mitochondria/metabolism; Mitochondrial Diseases/metabolism; Mitochondrial Diseases/pathology; Mutation; Phosphorylation; Skin/metabolism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Leigh Disease / Mitochondrial Diseases / Electron Transport Complex I / NADH Dehydrogenase Type of study: Diagnostic_studies / Prognostic_studies / Systematic_reviews Limits: Female / Humans / Infant / Male Language: En Journal: Biochim Biophys Acta Year: 2012 Type: Article Affiliation country: France

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