NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

(2010) Jessica Nouws et al.   Cell Metabolism

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

(2010) Saskia J.G. Hoefs et al.   MOLECULAR GENETICS AND METABOLISM

The architecture of respiratory complex I

(2010) Rouslan G. Efremov et al.   NATURE

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

(2009) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Baculovirus complementation restores a novelNDUFAF2mutation causing complex I deficiency

(2009) Saskia J.G. Hoefs et al.   HUMAN MUTATION

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NDUFA2 Complex I Mutation Leads to Leigh Disease

(2008) Saskia J.G. Hoefs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

(2008) Canny Sugiana et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

(2008) Itai Berger et al.   ANNALS OF NEUROLOGY

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

Electrophoresis techniques to investigate defects in oxidative phosphorylation

(2008) Maria Antonietta Calvaruso et al.   METHODS