The genetics and pathology of mitochondrial disease

Sequence and organization of the human mitochondrial genome

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A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

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Mitochondrial Respiratory-Chain Diseases

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Maternal inheritance of human mitochondrial DNA.

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Mitochondria and calcium: from cell signalling to cell death

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MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

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The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease

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A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

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Crystal structure of the entire respiratory complex I

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CLARITY for mapping the nervous system

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Mitochondrial Complex I

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

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A Rapid One-Step Trichrome Stain*

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

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Rapid examination of muscle tissue: An improved trichrome method for fresh‐frozen biopsy sections

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

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Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics

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Genes Lost and Genes Found: Evolution of Bacterial Pathogenesis and Symbiosis

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mtDNA Variation and Analysis Using Mitomap and Mitomaster

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Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion

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Minimum birth prevalence of mitochondrial respiratory chain disorders in children

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Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

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Pearson's marrow–pancreas syndrome. A multisystem mitochondrial disorder in infancy

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Biochemical Assays of Respiratory Chain Complex Activity

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NDUFA4 Is a Subunit of Complex IV of the Mammalian Electron Transport Chain

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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies

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

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Mutations of the SCO1 Gene in Mitochondrial Cytochrome c Oxidase Deficiency with Neonatal-Onset Hepatic Failure and Encephalopathy

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Mutations causing mitochondrial disease: What is new and what challenges remain?

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Mutations in COX15 Produce a Defect in the Mitochondrial Heme Biosynthetic Pathway, Causing Early-Onset Fatal Hypertrophic Cardiomyopathy

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Cytochrome c oxidase deficiency

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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure

de Lonlay, P., Valnot, I., Barrientos, A., Gorbatyuk, M., Tzagoloff, A., Taanman, J.-W., Benayoun, E., Chrétien, D., Kadhom, N., Lombès, A., et al. (2001) · Nature Genetics · doi:10.1038/ng706 · Cited by 320

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

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A neurological perspective on mitochondrial disease

McFarland, R., Taylor, R. W., & Turnbull, D. M. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70116-2 · Cited by 316

Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome

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A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency

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Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy

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Mitochondrial DNA and disease

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Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects

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

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A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy

Ogilvie, I. (2005) · Journal of Clinical Investigation · doi:10.1172/jci26020 · Cited by 279

Complexome Profiling Identifies TMEM126B as a Component of the Mitochondrial Complex I Assembly Complex

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

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Respiratory chain complex I deficiency: An underdiagnosed energy generation disorder

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Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

Floyd, B. J., Wilkerson, E. M., Veling, M. T., Minogue, C. E., Xia, C., Beebe, E. T., Wrobel, R. L., Cho, H., Kremer, L. S., Alston, C. L., et al. (2016) · Molecular Cell · doi:10.1016/j.molcel.2016.06.033 · Cited by 264

Large-Scale Deletion and Point Mutations of the Nuclear NDUFV1 and NDUFS1 Genes in Mitochondrial Complex I Deficiency

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Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations

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Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

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

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The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.

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

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Whole exome sequencing of suspected mitochondrial patients in clinical practice

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Risk of developing a mitochondrial DNA deletion disorder

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Mitochondria-specific RNA-modifying Enzymes Responsible for the Biosynthesis of the Wobble Base in Mitochondrial tRNAs

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The Role of Mitochondria in Cellular Iron-Sulfur Protein Biogenesis: Mechanisms, Connected Processes, and Diseases

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Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

Parfait, B., Chretien, D., Rötig, A., Marsac, C., Munnich, A., & Rustin, P. (2000) · Human Genetics · doi:10.1007/s004390051033 · Cited by 211

Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome

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TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

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Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12

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Severe Infantile Encephalomyopathy Caused by a Mutation in COX6B1, a Nucleus-Encoded Subunit of Cytochrome C Oxidase

Massa, V., Fernandez-Vizarra, E., Alshahwan, S., Bakhsh, E., Goffrini, P., Ferrero, I., Mereghetti, P., D'Adamo, P., Gasparini, P., & Zeviani, M. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.05.002 · Cited by 198

The diagnosis of mitochondrial muscle disease

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I

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

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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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Methods of microphotometric assay of succinate dehydrogenase and cytochromec oxidase activities for use on human skeletal muscle

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Endothelial dysfunction in MELAS improved by l-arginine supplementation

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

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[43]Cytochemistry and immunocytochemistry of mitochondria in tissue sections

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Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

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Targeted exome sequencing of suspected mitochondrial disorders

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Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

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A partial deficiency of cytochrome c oxidase in chronic progressive external ophthalmoplegia

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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

Sugiana, C., Pagliarini, D. J., McKenzie, M., Kirby, D. M., Salemi, R., Abu-Amero, K. K., Dahl, H.-H. M., Hutchison, W. M., Vascotto, K. A., Smith, S. M., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.09.009 · Cited by 178

Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing

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

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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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Mitochondrial cytochrome c oxidase deficiency

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Epigenetics, epidemiology and mitochondrial DNA diseases

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Presentation and clinical investigation of mitochondrial respiratory chain disease. A study of 51 patients

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy: NDUFV2 AND CARDIOMYOPATHY/ENCEPHALOPATHY

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Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

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Epileptic phenotypes associated with mitochondrial disorders

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Spectrum of combined respiratory chain defects

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Redefining phenotypes associated with mitochondrial DNA single deletion

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

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Functional Genomic Analysis of Human Mitochondrial RNA Processing

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

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Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneck

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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

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

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A national perspective on prenatal testing for mitochondrial disease

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Mitochondrial Matrix Ca2+ Accumulation Regulates Cytosolic NAD+/NADH Metabolism, Protein Acetylation, and Sirtuin Expression

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Extensive respiratory chain defects in inhibitory interneurones in patients with mitochondrial disease

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A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency

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Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients

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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease

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Development of passive CLARITY and immunofluorescent labelling of multiple proteins in human cerebellum: understanding mechanisms of neurodegeneration in mitochondrial disease

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Mitochondrial Diseases Part I: Mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors

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Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

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

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Mutations of theSCO1Gene in Mitochondrial CytochromecOxidase Deficiency with Neonatal‐Onset Hepatic Failure and Encephalopathy

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Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability

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Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis

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Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

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Mitochondrial dysfunction in myofibrillar myopathy

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A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

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CEP89 is required for mitochondrial metabolism and neuronal function in man and fly

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Loss of Myelin-Associated Glycoprotein in Kearns-Sayre Syndrome

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Concise Review: Heteroplasmic Mitochondrial DNA Mutations and Mitochondrial Diseases: Toward iPSC-Based Disease Modeling, Drug Discovery, and Regenerative Therapeutics

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Mitochondrial encephalomyopathy with lactic acidosis and stroke like episodes (MELAS) with prominent degeneration of the intestinal wall and cactus-like cerebellar pathology

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Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome

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Role for peroxisome proliferator-activated receptor-gamma in Alzheimer's disease.

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Pathology of the cerebellar dentate nucleus in sporadic olivopontocerebellar atrophy: a morphometric investigation

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Tissue specific differences in mitochondrial DNA maintenance and expression

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Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome

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CLPP deficiency protects against metabolic syndrome but hinders adaptive thermogenesis

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Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

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