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

The architecture of respiratory complex I

(2010) Rouslan G. Efremov et al.   NATURE

Mitochondrial protein import: from proteomics to functional mechanisms

(2010) Oliver Schmidt et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

(2009) R. J.R.J. Janssen et al.   HUMAN MOLECULAR GENETICS

Baculovirus complementation restores a novelNDUFAF2mutation causing complex I deficiency

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

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

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

Diagnosis and therapy in neuromuscular disorders: diagnosis and new treatments in mitochondrial diseases

(2009) S Rahman et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

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

Assembly of mitochondrial complex I and defects in disease

(2008) Michael Lazarou et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

(2008) Flora Barghuti et al.   MOLECULAR GENETICS AND METABOLISM