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AIF deficiency compromises oxidative phosphorylation

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

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

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Structures and Proton-Pumping Strategies of Mitochondrial Respiratory Enzymes

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The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

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Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

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Functional Analysis of Lymphoblast and Cybrid Mitochondria Containing the 3460, 11778, or 14484 Leber's Hereditary Optic Neuropathy Mitochondrial DNA Mutation

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A mechanistic principle for proton pumping by cytochrome c oxidase

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Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

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

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Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I)

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The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA

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Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

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Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency

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The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J

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Assembly of mitochondrial complex I and defects in disease

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Transmembrane topology of the NuoL, M and N subunits of NADH:quinone oxidoreductase and their homologues among membrane-bound hydrogenases and bona fide antiporters

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

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Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assemblyPreprint

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Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease

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NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

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

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Dissociating the dual roles of apoptosis‐inducing factor in maintaining mitochondrial structure and apoptosis

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Respiratory chain complex I deficiency

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

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De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency

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AIF: Not Just an Apoptosis‐Inducing Factor

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Mutations of the mitochondrial ND1 gene as a cause of MELAS

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

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Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies

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Aspartoacylase gene transfer to the mammalian central nervous system with therapeutic implications for Canavan disease

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Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency

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Identification of a Novel Mutation in the mtDNA ND5 Gene Associated with MELAS

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

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The iron–sulphur protein Ind1 is required for effective complex I assembly

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Identification of the Signal Directing Tim9 and Tim10 into the Intermembrane Space of Mitochondria

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

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C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

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Import and assembly of proteins into mitochondria of mammalian cells

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Identification of Mitochondrial Complex I Assembly Intermediates by Tracing Tagged NDUFS3 Demonstrates the Entry Point of Mitochondrial Subunits

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Human mitochondrial complex I assembly: A dynamic and versatile process

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The gross structure of the respiratory complex I: a Lego System

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X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy

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AIF suppresses chemical stress‐induced apoptosis and maintains the transformed state of tumor cells

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

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Pathological Mutations of the Human NDUFS4 Gene of the 18-kDa (AQDQ) Subunit of Complex I Affect the Expression of the Protein and the Assembly and Function of the Complex

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Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin

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NDUFA2 Complex I Mutation Leads to Leigh Disease

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Human mitochondrial complex I assembly is mediated by NDUFAF1

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

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Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

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Assembly of NADH: Ubiquinone reductase (complex I) in Neurospora mitochondria

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Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation

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Impact of Mutations Affecting ND Mitochondria-encoded Subunits on the Activity and Assembly of Complex I in Chlamydomonas. Implication for the Structural Organization of the Enzyme

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The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

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