The molecular basis of human complex I deficiency

The Mitochondrial Proteome and Human Disease

(2010) Sarah E. Calvo et al.   Annual Review of Genomics and Human Genetics

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

(2010) Mike Gerards et al.   BRAIN

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

(2010) Jessica Nouws et al.   Cell Metabolism

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

(2010) Elisa Fassone et al.   HUMAN MOLECULAR GENETICS

Assembly factors of human mitochondrial complex I and their defects in disease

(2010) Matthew Mckenzie et al.   IUBMB LIFE

The architecture of respiratory complex I

(2010) Rouslan G. Efremov et al.   NATURE

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

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

(2010) Sarah E Calvo et al.   NATURE GENETICS

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

(2010) M. Herzer et al.   NEUROPEDIATRICS

Functional Modules and Structural Basis of Conformational Coupling in Mitochondrial Complex I

(2010) C. Hunte et al.   SCIENCE

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

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

(2009) M. Gerards et al.   JOURNAL OF MEDICAL GENETICS

Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I

(2009) A. D. Sheftel et al.   MOLECULAR AND CELLULAR BIOLOGY

Rapid screening for nuclear genes mutations in isolated respiratory chain complex I defects

(2009) Hélène Pagniez-Mammeri et al.   MOLECULAR GENETICS AND METABOLISM

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease

(2009) Prasanth Potluri et al.   MOLECULAR GENETICS AND METABOLISM

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

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

Pathogenic Mitochondrial DNA Mutations Are Common in the General Population

(2008) Hannah R. Elliott 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

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL