Human diseases associated with defects in assembly of OXPHOS complexes

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency

(2018) Adriana P Rebelo et al.   BRAIN

Assembly of mammalian oxidative phosphorylation complexes I–V and supercomplexes

(2018) Alba Signes et al.   Essays in Biochemistry

Clinical and genetic aspects of defects in the mitochondrial iron–sulfur cluster synthesis pathway

(2018) A. V. Vanlander et al.   JOURNAL OF BIOLOGICAL INORGANIC CHEMISTRY

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

(2017) G. H. Renkema et al.   HUMAN GENETICS

A novel de novo dominant mutation inISCUassociated with mitochondrial myopathy

(2017) Andrea Legati et al.   JOURNAL OF MEDICAL GENETICS

Mutations in mitochondrial complex I assembly factor NDUFAF3 cause Leigh syndrome

(2017) Fabian Baertling et al.   MOLECULAR GENETICS AND METABOLISM

Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

(2017) Bertold Schrank et al.   NEUROMUSCULAR DISORDERS

Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

(2017) René G. Feichtinger et al.   Oxidative Medicine and Cellular Longevity

Genetic diagnosis of Mendelian disorders via RNA sequencing

(2017) Laura S. Kremer et al.   Nature Communications

Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency

(2016) Rikke K.J. Olsen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency

(2016) Laura Sánchez-Caballero et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

(2016) Charlotte L. Alston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects

(2016) Nikola Kovářová et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

LYRM7mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance

(2016) Cristina Dallabona et al.   BRAIN

Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB

(2016) Nunziata Maio et al.   Cell Metabolism

Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6

(2016) Hana Hartmannová et al.   HUMAN MOLECULAR GENETICS

Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules

(2016) Nancy Leslie et al.   HUMAN PATHOLOGY

Severe respiratory complex III defect prevents liver adaptation to prolonged fasting

(2016) Laura S. Kremer et al.   JOURNAL OF HEPATOLOGY

COA7(C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency

(2016) Anabel Martinez Lyons et al.   JOURNAL OF MEDICAL GENETICS

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism

(2016) Laura Kytövuori et al.   JOURNAL OF NEUROLOGY

Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes

(2016) Alessandra Torraco et al.   JOURNAL OF NEUROLOGY

Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency

(2016) Carolina Ribeiro et al.   MITOCHONDRION

A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II

(2016) Olga Zurita Rendón et al.   MOLECULAR AND CELLULAR BIOLOGY

Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients

(2016) Joseph P. Dewulf et al.   MOLECULAR GENETICS AND METABOLISM

Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh gene

(2016) Laura Bianciardi et al.   MOLECULAR GENETICS AND METABOLISM

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies

(2016) Masakazu Kohda et al.   PLoS Genetics

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

(2015) Marie Collet et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Germline mutations and genotype–phenotype associations in head and neck paraganglioma patients with negative family history in China

(2015) W.D. Zhu et al.   European Journal of Medical Genetics

COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2

(2015) David A. Stroud et al.   HUMAN MOLECULAR GENETICS

Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

(2015) Manuel Schiff et al.   HUMAN MOLECULAR GENETICS

Mutations inCOA3cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature

(2015) Elsebet Ostergaard et al.   JOURNAL OF MEDICAL GENETICS

C11orf83, a Mitochondrial Cardiolipin-Binding Protein Involved inbc1Complex Assembly and Supercomplex Stabilization

(2015) Marjorie Desmurs et al.   MOLECULAR AND CELLULAR BIOLOGY

Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

(2015) Johannes Koch et al.   Orphanet Journal of Rare Diseases

Nuclear gene mutations as the cause of mitochondrial complex III deficiency

(2015) Erika Fernández-Vizarra et al.   Frontiers in Genetics

Mutations in APOPT1, Encoding a Mitochondrial Protein, Cause Cavitating Leukoencephalopathy with Cytochrome c Oxidase Deficiency

(2014) Laura Melchionda et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

(2014) Sze Chern Lim et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial iron–sulfur protein biogenesis and human disease

(2014) Oliver Stehling et al.   BIOCHIMIE

Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

(2014) Hiroyuki Morino et al.   BMC Neurology

Cochaperone Binding to LYR Motifs Confers Specificity of Iron Sulfur Cluster Delivery

(2014) Nunziata Maio et al.   Cell Metabolism

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

(2014) Monika Oláhová et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency

(2014) A. Ghosh et al.   HUMAN MOLECULAR GENETICS

A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability

(2014) Bas F.J. Wanschers et al.   HUMAN MOLECULAR GENETICS

Mutations inCOA6cause CytochromecOxidase Deficiency and Neonatal Hypertrophic Cardiomyopathy

(2014) Fabian Baertling et al.   HUMAN MUTATION

Universal Genetic Screening Uncovers a Novel Presentation of an SDHAF2 Mutation

(2014) Ruth Casey et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

TMEM70 deficiency: long-term outcome of 48 patients

(2014) Martin Magner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Leukodystrophy associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFAF1 gene

(2014) Liwen Wu et al.   Mitochondrial DNA

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

(2014) Lindsay C. Burrage et al.   MOLECULAR GENETICS AND METABOLISM

Long Survival in Leigh Syndrome: New Cases and Review of Literature

(2014) Charlotte Thiels et al.   NEUROPEDIATRICS

Mutations in SCO2 Are Associated with Autosomal-Dominant High-Grade Myopia

(2013) Khanh-Nhat Tran-Viet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Novel Mutations inSCO1as a Cause of Fatal Infantile Encephalopathy and Lactic Acidosis

(2013) Scot C. Leary et al.   HUMAN MUTATION

A Homozygous Mutation inLYRM7/MZM1LAssociated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity

(2013) Federica Invernizzi et al.   HUMAN MUTATION

A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

(2013) Eleanor Rattenberry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

(2013) Sarah Doss et al.   JOURNAL OF NEUROLOGY

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

(2013) Célia Nogueira et al.   NEUROGENETICS

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

(2013) S. H. Kevelam et al.   NEUROLOGY

SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease

(2013) A. Echaniz-Laguna et al.   NEUROLOGY

Supercomplex Assembly Determines Electron Flux in the Mitochondrial Electron Transport Chain

(2013) E. Lapuente-Brun et al.   SCIENCE

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

(2013) Elena J. Tucker et al.   PLoS Genetics

Respiratory supercomplexes: structure, function and assembly

(2013) Rasika Vartak et al.   Protein & Cell

Mutations in C12orf62, a Factor that Couples COX I Synthesis with Cytochrome c Oxidase Assembly, Cause Fatal Neonatal Lactic Acidosis

(2012) Woranontee Weraarpachai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

MITRAC Links Mitochondrial Protein Translocation to Respiratory-Chain Assembly and Translational Regulation

(2012) David U. Mick et al.   CELL

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia

(2012) Radek Szklarczyk et al.   HUMAN MOLECULAR GENETICS

Adult-onset spinocerebellar ataxia syndromes due toMTATP6mutations

(2012) Gerald Pfeffer et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency

(2012) Andreas Ohlenbusch et al.   Orphanet Journal of Rare Diseases

Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidase

(2012) Radek Szklarczyk et al.   GENOME BIOLOGY

BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency

(2012) A. M. Lynn et al.   ANNALS OF CLINICAL BIOCHEMISTRY

A Mutation in C2orf64 Causes Impaired Cytochrome c Oxidase Assembly and Mitochondrial Cardiomyopathy

(2011) Merei Huigsloot et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

(2011) Ann Saada et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy

(2011) E. Fassone et al.   JOURNAL OF MEDICAL GENETICS

Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies

(2011) Daniele Ghezzi et al.   NATURE GENETICS

Mitochondrial encephalocardio-myopathy with early neonatal onset due to TMEM70 mutation

(2010) T. Honzik et al.   ARCHIVES OF DISEASE IN CHILDHOOD

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

Warburg tumours and the mechanisms of mitochondrial tumour suppressor genes. Barking up the right tree?

(2010) Jean-Pierre Bayley et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

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

Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1   subunit

(2010) J. A. Mayr et al.   HUMAN MOLECULAR GENETICS

Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

(2010) María Morán et al.   HUMAN MUTATION

TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome

(2010) R. Spiegel et al.   JOURNAL OF MEDICAL GENETICS

SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma

(2010) Jean-Pierre Bayley et al.   LANCET ONCOLOGY

Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization

(2010) Jessie M. Cameron et al.   MITOCHONDRION

Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation

(2010) Helen A.L. Tuppen et al.   MOLECULAR GENETICS AND METABOLISM

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

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

Loss of function of Sco1 and its interaction with cytochrome c oxidase

(2009) Lukas Stiburek et al.   AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY

The inheritance of pathogenic mitochondrial DNA mutations

(2009) L.M. Cree et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Clinical and biochemical spectrum of mitochondrial complex III deficiency caused by mutations in theBCS1Lgene

(2009)   CLINICAL GENETICS

SURF1missense mutations promote a mild Leigh phenotype

(2009) D Piekutowska-Abramczuk et al.   CLINICAL GENETICS

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

(2009) Maciej Pronicki et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Batteries not included: diagnosis and management of mitochondrial disease

(2009) R. McFarland et al.   JOURNAL OF INTERNAL MEDICINE

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes

(2009) S M Ware et al.   JOURNAL OF MEDICAL GENETICS

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

SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy

(2009) Daniele Ghezzi et al.   NATURE GENETICS

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

(2009) H.-X. Hao et al.   SCIENCE

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada 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

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

(2008) Katrine Bych et al.   EMBO JOURNAL

Respiratory Active Mitochondrial Supercomplexes

(2008) Rebeca Acín-Pérez et al.   MOLECULAR CELL

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

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

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS