Published in Nat Rev Genet on December 01, 2012
Mitochondrial dynamics and inheritance during cell division, development and disease. Nat Rev Mol Cell Biol (2014) 2.07
An Essential Role of the Mitochondrial Electron Transport Chain in Cell Proliferation Is to Enable Aspartate Synthesis. Cell (2015) 2.03
Mitochondrial encephalomyopathies--fifty years on: the Robert Wartenberg Lecture. Neurology (2013) 2.01
The clinical maze of mitochondrial neurology. Nat Rev Neurol (2013) 1.72
Chlorinated persistent organic pollutants, obesity, and type 2 diabetes. Endocr Rev (2014) 1.71
Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs. Nat Med (2013) 1.61
Mitochondrial replacement in human oocytes carrying pathogenic mitochondrial DNA mutations. Nature (2016) 1.60
Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals. Proc Natl Acad Sci U S A (2014) 1.47
The dynamics of mitochondrial DNA heteroplasmy: implications for human health and disease. Nat Rev Genet (2015) 1.40
Origins and functional consequences of somatic mitochondrial DNA mutations in human cancer. Elife (2014) 1.39
Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease. Nature (2016) 1.33
Mitochondrial genetics. Br Med Bull (2013) 1.30
Mitochondria as a target of environmental toxicants. Toxicol Sci (2013) 1.24
Pathogenic mitochondrial tRNA point mutations: nine novel mutations affirm their importance as a cause of mitochondrial disease. Hum Mutat (2013) 1.12
Concise reviews: Assisted reproductive technologies to prevent transmission of mitochondrial DNA disease. Stem Cells (2015) 1.05
Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle. PLoS One (2014) 1.04
Somatic mtDNA mutation spectra in the aging human putamen. PLoS Genet (2013) 1.04
Disease progression in patients with single, large-scale mitochondrial DNA deletions. Brain (2013) 1.02
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. Neurogenetics (2013) 1.00
Pathophysiology of endotoxin tolerance: mechanisms and clinical consequences. Crit Care (2013) 1.00
A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity. Am J Hum Genet (2014) 0.97
Cytoplasmic genetic variation and extensive cytonuclear interactions influence natural variation in the metabolome. Elife (2013) 0.97
A review of bacteria-animal lateral gene transfer may inform our understanding of diseases like cancer. PLoS Genet (2013) 0.97
Gene Therapy for Leber Hereditary Optic Neuropathy: Initial Results. Ophthalmology (2015) 0.97
Mitochondrial DNA copy number variation across human cancers. Elife (2016) 0.96
Mitonuclear interactions: evolutionary consequences over multiple biological scales. Philos Trans R Soc Lond B Biol Sci (2014) 0.96
α-Synuclein binds to TOM20 and inhibits mitochondrial protein import in Parkinson's disease. Sci Transl Med (2016) 0.95
Oxidative stress and mitochondrial dysfunction across broad-ranging pathologies: toward mitochondria-targeted clinical strategies. Oxid Med Cell Longev (2014) 0.95
Spectrum of combined respiratory chain defects. J Inherit Metab Dis (2015) 0.93
Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy. Hum Reprod (2016) 0.92
Analysis of the whole mitochondrial genome: translation of the Ion Torrent Personal Genome Machine system to the diagnostic bench? Eur J Hum Genet (2014) 0.91
Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints. BMC Genomics (2014) 0.90
Mitochondrial DNA: impacting central and peripheral nervous systems. Neuron (2014) 0.90
Natural underlying mtDNA heteroplasmy as a potential source of intra-person hiPSC variability. EMBO J (2016) 0.89
MitoBreak: the mitochondrial DNA breakpoints database. Nucleic Acids Res (2013) 0.89
A multi-parametric workflow for the prioritization of mitochondrial DNA variants of clinical interest. Hum Genet (2015) 0.89
A national perspective on prenatal testing for mitochondrial disease. Eur J Hum Genet (2014) 0.88
Mitochondrial DNA mutations and breast tumorigenesis. Biochim Biophys Acta (2013) 0.87
Mitochondrial maintenance failure in aging and role of sexual dimorphism. Arch Biochem Biophys (2014) 0.86
Programmed cell death in aging. Ageing Res Rev (2015) 0.86
Maintaining ancient organelles: mitochondrial biogenesis and maturation. Circ Res (2015) 0.85
Mitochondrial disease: genetics and management. J Neurol (2015) 0.84
Mitochondrial dysfunction in inherited renal disease and acute kidney injury. Nat Rev Nephrol (2016) 0.84
Endocrine disorders in mitochondrial disease. Mol Cell Endocrinol (2013) 0.83
Expert consensus document: Mitochondrial function as a therapeutic target in heart failure. Nat Rev Cardiol (2016) 0.83
Somatic alterations in mitochondrial DNA and mitochondrial dysfunction in gastric cancer progression. World J Gastroenterol (2014) 0.82
Frailty and mortality are not influenced by mitochondrial DNA haplotypes in the very old. Neurobiol Aging (2013) 0.82
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. Mol Genet Metab (2016) 0.81
Next-generation sequencing of mitochondrial targeted AAV transfer of human ND4 in mice. Mol Vis (2013) 0.81
Cancer as a mitochondrial metabolic disease. Front Cell Dev Biol (2015) 0.81
Oocyte mitochondrial function and reproduction. Curr Opin Obstet Gynecol (2015) 0.81
Structural analysis of mitochondrial mutations reveals a role for bigenomic protein interactions in human disease. PLoS One (2013) 0.81
Next-generation sequencing for mitochondrial disorders. Br J Pharmacol (2014) 0.80
Crosstalk between mitochondrial stress signals regulates yeast chronological lifespan. Mech Ageing Dev (2013) 0.80
Maternal ancestry and population history from whole mitochondrial genomes. Investig Genet (2015) 0.80
Cumulative mtDNA damage and mutations contribute to the progressive loss of RGCs in a rat model of glaucoma. Neurobiol Dis (2014) 0.80
Epilepsy in adults with mitochondrial disease: A cohort study. Ann Neurol (2015) 0.80
Restoration of normal embryogenesis by mitochondrial supplementation in pig oocytes exhibiting mitochondrial DNA deficiency. Sci Rep (2016) 0.79
Clueless, a protein required for mitochondrial function, interacts with the PINK1-Parkin complex in Drosophila. Dis Model Mech (2015) 0.79
Mitochondrial DNA depletion sensitizes cancer cells to PARP inhibitors by translational and post-translational repression of BRCA2. Oncogenesis (2013) 0.79
Exercise intolerance and developmental delay associated with a novel mitochondrial ND5 mutation. Sci Rep (2015) 0.79
A Drosophila model for mito-nuclear diseases generated by an incompatible interaction between tRNA and tRNA synthetase. Dis Model Mech (2015) 0.79
Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies. Mitochondrion (2015) 0.79
Bcl2 inhibition of mitochondrial DNA repair. BMC Cancer (2015) 0.79
Time-dependent and somatically acquired mitochondrial DNA mutagenesis and respiratory chain dysfunction in a scleroderma model of lung fibrosis. Sci Rep (2014) 0.79
Mitochondrial DNA deletions in Alzheimer's brains: a review. Alzheimers Dement (2013) 0.78
Increased prevalence of malignancy in adult mitochondrial disorders. J Med Life (2013) 0.78
Mitochondrial oxidative DNA damage and exposure to particulate air pollution in mother-newborn pairs. Environ Health (2016) 0.78
Cardiac metabolic alterations in hypertensive obese pigs. Hypertension (2015) 0.78
Modifying the Mitochondrial Genome. Cell Metab (2016) 0.78
Rotenone-induced Impairment of Mitochondrial Electron Transport Chain Confers a Selective Priming Signal for NLRP3 Inflammasome Activation. J Biol Chem (2015) 0.78
A Comprehensive Characterization of Mitochondrial Genome in Papillary Thyroid Cancer. Int J Mol Sci (2016) 0.77
Digital PCR methods improve detection sensitivity and measurement precision of low abundance mtDNA deletions. Sci Rep (2016) 0.77
Genome engineering: Drosophila melanogaster and beyond. Wiley Interdiscip Rev Dev Biol (2015) 0.77
Mitochondrial DNA mutations distinguish bilateral multifocal renal oncocytomas from familial Birt-Hogg-Dubé tumors. Mod Pathol (2015) 0.77
Inborn errors of metabolism underlying primary immunodeficiencies. J Clin Immunol (2014) 0.77
A magic bullet to specifically eliminate mutated mitochondrial genomes from patients' cells. EMBO Mol Med (2014) 0.77
Spectrum of mitochondrial genomic variation and associated clinical presentation of prostate cancer in South African men. Prostate (2015) 0.77
Drosophila mitochondrial topoisomerase III alpha affects the aging process via maintenance of mitochondrial function and genome integrity. J Biomed Sci (2016) 0.77
Mitochondrial Dysfunction in Cancer and Neurodegenerative Diseases: Spotlight on Fatty Acid Oxidation and Lipoperoxidation Products. Antioxidants (Basel) (2016) 0.77
Contribution of non-reference alleles in mtDNA of Alzheimer's disease patients. Ann Clin Transl Neurol (2014) 0.77
Role of mitochondrial dysfunction in cancer progression. Exp Biol Med (Maywood) (2016) 0.77
Sphingolipids and mitochondrial function, lessons learned from yeast. Microb Cell (2014) 0.76
Mitochondrial DNA exhibits resistance to induced point and deletion mutations. Nucleic Acids Res (2016) 0.76
Mitochondrial dysfunction and risk of cancer. Br J Cancer (2015) 0.76
Uniform distributions of glucose oxidation and oxygen extraction in gray matter of normal human brain: No evidence of regional differences of aerobic glycolysis. J Cereb Blood Flow Metab (2016) 0.76
Oxidative DNA damage stalls the human mitochondrial replisome. Sci Rep (2016) 0.76
Population-level expression variability of mitochondrial DNA-encoded genes in humans. Eur J Hum Genet (2014) 0.76
PINK1, Parkin, and Mitochondrial Quality Control: What can we Learn about Parkinson's Disease Pathobiology? J Parkinsons Dis (2016) 0.76
Reprogramming of hepatic fat accumulation and 'browning' of adipose tissue by the short-chain fatty acid acetate. Int J Obes (Lond) (2016) 0.76
Zebrafish lacking functional DNA polymerase gamma survive to juvenile stage, despite rapid and sustained mitochondrial DNA depletion, altered energetics and growth. Nucleic Acids Res (2015) 0.76
Role of diffuse low-level heteroplasmy of mitochondrial DNA in Alzheimer's disease neurodegeneration. Front Aging Neurosci (2015) 0.76
Toxicological assessment of multi-walled carbon nanotubes in vitro: potential mitochondria effects on male reproductive cells. Oncotarget (2016) 0.76
CHCHD4 links AIF to the biogenesis of respiratory chain complex I. Mol Cell Oncol (2015) 0.76
Mitochondrial respiratory dysfunction disturbs neuronal and cardiac lineage commitment of human iPSCs. Cell Death Dis (2017) 0.75
Increased mitochondrial DNA deletions and copy number in transfusion-dependent thalassemia. JCI Insight (2016) 0.75
Mitochondria in pluripotent stem cells: stemness regulators and disease targets. Curr Opin Genet Dev (2016) 0.75
High frequency of mitochondrial DNA mutations in HIV-infected treatment-experienced individuals. HIV Med (2016) 0.75
MitoRS, a method for high throughput, sensitive, and accurate detection of mitochondrial DNA heteroplasmy. BMC Genomics (2017) 0.75
Altered Mitochondrial Signalling and Metabolism in Cancer. Front Oncol (2017) 0.75
Sequence and organization of the human mitochondrial genome. Nature (1981) 57.39
Mitochondrial DNA and human evolution. Nature (1987) 22.33
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science (1989) 9.71
Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-alpha prolyl hydroxylase. Cancer Cell (2005) 9.33
Mitochondrial respiratory-chain diseases. N Engl J Med (2003) 8.68
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. Nat Genet (2002) 8.19
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature (1988) 7.65
THE METABOLISM OF TUMORS IN THE BODY. J Gen Physiol (1927) 7.64
Metabolite profiling identifies a key role for glycine in rapid cancer cell proliferation. Science (2012) 6.79
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet (2006) 6.52
Effects of purifying and adaptive selection on regional variation in human mtDNA. Science (2004) 5.87
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet (2001) 5.09
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet (1990) 4.96
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med (1989) 4.87
Prevalence of mitochondrial DNA disease in adults. Ann Neurol (2008) 4.72
Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet (1998) 4.67
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet (2006) 4.61
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat Genet (1993) 4.49
On the origin of mitosing cells J Theor Biol (1967) 4.36
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science (1999) 4.05
Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med (2012) 4.02
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet (2001) 3.82
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N Engl J Med (1999) 3.76
Pathogenic mitochondrial DNA mutations are common in the general population. Am J Hum Genet (2008) 3.56
Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet (1992) 3.53
Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol (2008) 3.38
Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet (2000) 3.06
Mitochondria: the next (neurode)generation. Neuron (2011) 3.06
An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol (2009) 3.05
RAPID EXAMINATION OF MUSCLE TISSUE. AN IMPROVED TRICHROME METHOD FOR FRESH-FROZEN BIOPSY SECTIONS. Neurology (1963) 2.98
Mitochondria in cancer cells: what is so special about them? Trends Cell Biol (2008) 2.97
Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol (1958) 2.91
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. Ann Neurol (2004) 2.88
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol (1992) 2.83
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc Natl Acad Sci U S A (1992) 2.83
Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons. Proc Natl Acad Sci U S A (2007) 2.77
Molecular poltergeists: mitochondrial DNA copies (numts) in sequenced nuclear genomes. PLoS Genet (2010) 2.70
Isolation of human cell lines lacking mitochondrial DNA. Methods Enzymol (1996) 2.70
Mitochondrial respiration defects in cancer cells cause activation of Akt survival pathway through a redox-mediated mechanism. J Cell Biol (2006) 2.68
Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science (2000) 2.66
Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein. Cell (1990) 2.64
Comprehensive association testing of common mitochondrial DNA variation in metabolic disease. Am J Hum Genet (2006) 2.60
Prevalence of mitochondrial 1555A-->G mutation in adults of European descent. N Engl J Med (2009) 2.57
Voltage-dependent anion channel (VDAC) as mitochondrial governator--thinking outside the box. Biochim Biophys Acta (2005) 2.57
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet (1991) 2.53
Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. Am J Hum Genet (2006) 2.43
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet (2007) 2.40
A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr (1979) 2.32
Monogenic mitochondrial disorders. N Engl J Med (2012) 2.30
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet (1994) 2.16
Mitochondria-specific RNA-modifying enzymes responsible for the biosynthesis of the wobble base in mitochondrial tRNAs. Implications for the molecular pathogenesis of human mitochondrial diseases. J Biol Chem (2004) 1.97
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95
Kearns-Sayre syndrome with muscle mitochondrial DNA deletion. Lancet (1988) 1.93
Reduced mitochondrial DNA copy number is correlated with tumor progression and prognosis in Chinese breast cancer patients. IUBMB Life (2007) 1.92
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci U S A (2005) 1.88
Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome. Proc Natl Acad Sci U S A (1989) 1.88
Akt inhibits apoptosis downstream of BID cleavage via a glucose-dependent mechanism involving mitochondrial hexokinases. Mol Cell Biol (2004) 1.85
Targeting mitochondrial dysfunction: role for PINK1 and Parkin in mitochondrial quality control. Antioxid Redox Signal (2011) 1.82
Mitochondrial DNA and disease. J Pathol (2011) 1.81
A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA. N Engl J Med (1994) 1.72
The Human Genome Project reveals a continuous transfer of large mitochondrial fragments to the nucleus. Mol Biol Evol (2001) 1.69
Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: is there a common mechanism? Lancet (2002) 1.65
Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation. J Cell Biol (2008) 1.63
L-arginine improves the symptoms of strokelike episodes in MELAS. Neurology (2005) 1.63
Gene amplification as double minutes or homogeneously staining regions in solid tumors: origin and structure. Genome Res (2010) 1.62
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest (2003) 1.60
Mechanisms of mitochondrial diseases. Ann Med (2011) 1.59
Mitochondrial stress engages E2F1 apoptotic signaling to cause deafness. Cell (2012) 1.56
Nitric oxide partitioning into mitochondrial membranes and the control of respiration at cytochrome c oxidase. Proc Natl Acad Sci U S A (2001) 1.53
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann Neurol (1993) 1.53
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. Brain (2010) 1.52
Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication. Hum Mol Genet (2001) 1.45
Generation, function and diagnostic value of mitochondrial DNA copy number alterations in human cancers. Life Sci (2011) 1.42
The role of mitochondrial DNA mutations in aging and sarcopenia: implications for the mitochondrial vicious cycle theory of aging. Exp Gerontol (2007) 1.41
Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR. Biochim Biophys Acta (1992) 1.40
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am J Hum Genet (1990) 1.40
The 4977 bp deletion of mitochondrial DNA in human skeletal muscle, heart and different areas of the brain: a useful biomarker or more? Exp Gerontol (2008) 1.37
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J (2010) 1.36
Inhibition of cytochrome c oxidase in turnover by nitric oxide: mechanism and implications for control of respiration. Biochem J (1995) 1.36
Prevalence of mitochondrial 1555A-->G mutation in European children. N Engl J Med (2009) 1.32
Human genetic disease caused by de novo mitochondrial-nuclear DNA transfer. Hum Genet (2003) 1.31
A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann N Y Acad Sci (2008) 1.22
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV. Hum Mutat (2004) 1.22
Approaches to the treatment of mitochondrial diseases. Muscle Nerve (2006) 1.19
Mitochondrial DNA variants of respiratory complex I that uniquely characterize haplogroup T2 are associated with increased risk of age-related macular degeneration. PLoS One (2009) 1.19
Mitochondrial autophagy in cells with mtDNA mutations results from synergistic loss of transmembrane potential and mTORC1 inhibition. Hum Mol Genet (2011) 1.18
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions. Nat Genet (1992) 1.18
A functionally dominant mitochondrial DNA mutation. Hum Mol Genet (2008) 1.17
The pseudo-mitochondrial genome influences mistakes in heteroplasmy interpretation. BMC Genomics (2006) 1.17
Germ line insertion of mtDNA at the breakpoint junction of a reciprocal constitutional translocation. Hum Genet (2001) 1.16
Were inefficient mitochondrial haplogroups selected during migrations of modern humans? A test using modular kinetic analysis of coupling in mitochondria from cybrid cell lines. Biochem J (2007) 1.15
Mitochondrial genome deletion aids in the identification of false- and true-negative prostate needle core biopsy specimens. Am J Clin Pathol (2008) 1.15
Regulation of glucose metabolism by p53: emerging new roles for the tumor suppressor. Oncotarget (2011) 1.15
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet (1994) 1.15
Somatic mitochondrial DNA mutations in prostate cancer and normal appearing adjacent glands in comparison to age-matched prostate samples without malignant histology. J Mol Diagn (2006) 1.14
In vivo inhibition of the pyrimidine de novo enzyme dihydroorotic acid dehydrogenase by brequinar sodium (DUP-785; NSC 368390) in mice and patients. Cancer Res (1990) 1.14
Mitochondrial haplogroup H correlates with ATP levels and age at onset in Huntington disease. J Mol Med (Berl) (2010) 1.13
Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Hum Mol Genet (2001) 1.11
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain (2009) 1.10
A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome. Ann Neurol (1999) 1.10
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet (2006) 3.17
A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet (2005) 2.73
Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations. Am J Hum Genet (2006) 2.66
FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study. Lancet Neurol (2011) 2.36
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome. Ann Neurol (2002) 2.14
ADCK3, an ancestral kinase, is mutated in a form of recessive ataxia associated with coenzyme Q10 deficiency. Am J Hum Genet (2008) 2.04
Nuclear genome transfer in human oocytes eliminates mitochondrial DNA variants. Nature (2012) 1.95
Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol (2012) 1.77
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain (2007) 1.73
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med (2006) 1.73
The clinical maze of mitochondrial neurology. Nat Rev Neurol (2013) 1.72
A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease. Am J Hum Genet (2009) 1.71
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage. Proc Natl Acad Sci U S A (2005) 1.68
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet (2007) 1.67
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis. Am J Med Genet A (2004) 1.64
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J Clin Invest (2003) 1.60
Phospholipid abnormalities in children with Barth syndrome. J Am Coll Cardiol (2003) 1.59
Human NARP mitochondrial mutation metabolism corrected with alpha-ketoglutarate/aspartate: a potential new therapy. Arch Neurol (2009) 1.58
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J Am Coll Cardiol (2003) 1.57
Novel cell lines derived from adult human ventricular cardiomyocytes. J Mol Cell Cardiol (2005) 1.54
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene. Am J Hum Genet (2006) 1.53
Altered thymidine metabolism due to defects of thymidine phosphorylase. J Biol Chem (2001) 1.52
Mitochondrial DNA abnormalities and autistic spectrum disorders. J Pediatr (2004) 1.49
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. Brain (2011) 1.46
Coenzyme Q-responsive Leigh's encephalopathy in two sisters. Ann Neurol (2002) 1.45
Mitochondrial encephalomyopathies: an update. Neuromuscul Disord (2005) 1.45
Atorvastatin decreases the coenzyme Q10 level in the blood of patients at risk for cardiovascular disease and stroke. Arch Neurol (2004) 1.42
Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiency. FASEB J (2008) 1.41
Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature (2011) 1.41
X-linked dominant scapuloperoneal myopathy is due to a mutation in the gene encoding four-and-a-half-LIM protein 1. Am J Hum Genet (2008) 1.40
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene. Neuromuscul Disord (2008) 1.39
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency. FASEB J (2010) 1.36
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. J Biol Chem (2006) 1.35
The spectrum of exercise tolerance in mitochondrial myopathies: a study of 40 patients. Brain (2003) 1.35
Risk of developing a mitochondrial DNA deletion disorder. Lancet (2004) 1.34
Human coenzyme Q10 deficiency. Neurochem Res (2006) 1.34
Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice. Hum Mol Genet (2008) 1.33
Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J (2008) 1.31
Early-onset familial parkinsonism due to POLG mutations. Ann Neurol (2006) 1.31
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet (2013) 1.30
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. Arch Neurol (2003) 1.29
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies. Ann Neurol (2003) 1.28
New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol (2013) 1.26
Treatment of CoQ(10) deficient fibroblasts with ubiquinone, CoQ analogs, and vitamin C: time- and compound-dependent effects. PLoS One (2010) 1.26
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. Hum Mol Genet (2003) 1.26
Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. Hum Mol Genet (2008) 1.26
Definitive diagnosis of mitochondrial neurogastrointestinal encephalomyopathy by biochemical assays. Clin Chem (2003) 1.26
Late-onset MNGIE due to partial loss of thymidine phosphorylase activity. Ann Neurol (2005) 1.25
ETFDH mutations, CoQ10 levels, and respiratory chain activities in patients with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency. Neuromuscul Disord (2009) 1.24
Elevated plasma deoxyuridine in patients with thymidine phosphorylase deficiency. Biochem Biophys Res Commun (2003) 1.22
Mutations in coenzyme Q10 biosynthetic genes. J Clin Invest (2007) 1.21
Approaches to the treatment of mitochondrial diseases. Muscle Nerve (2006) 1.19
POLG mutations and Alpers syndrome. Ann Neurol (2005) 1.19
Therapeutic prospects for mitochondrial disease. Trends Mol Med (2010) 1.17
A functionally dominant mitochondrial DNA mutation. Hum Mol Genet (2008) 1.17
Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations. Biochem J (2002) 1.17
Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol (2002) 1.17
Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency. J Med Genet (2012) 1.16
Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). FEBS Lett (2007) 1.16
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol (2005) 1.16
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain (2012) 1.16
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. Arch Neurol (2006) 1.15
Protean phenotypic features of the A3243G mitochondrial DNA mutation. Arch Neurol (2009) 1.15
Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev (2010) 1.14
Gastrointestinal dysmotility in mitochondrial neurogastrointestinal encephalomyopathy is caused by mitochondrial DNA depletion. Am J Pathol (2008) 1.11
Primary coenzyme Q10 deficiency and the brain. Biofactors (2003) 1.11
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. Brain (2009) 1.10
Short communication: transplacental nucleoside analogue exposure and mitochondrial parameters in HIV-uninfected children. AIDS Res Hum Retroviruses (2011) 1.09
Primary and secondary CoQ(10) deficiencies in humans. Biofactors (2011) 1.09
Neutral lipid storage disease with subclinical myopathy due to a retrotransposal insertion in the PNPLA2 gene. Neuromuscul Disord (2010) 1.09
MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve (2004) 1.09
Does linezolid cause lactic acidosis by inhibiting mitochondrial protein synthesis? Clin Infect Dis (2005) 1.08
Novel mutations in the adipose triglyceride lipase gene causing neutral lipid storage disease with myopathy. Biochem Biophys Res Commun (2008) 1.07
MERRF and Kearns-Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation. Muscle Nerve (2011) 1.07
Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations. Exp Neurol (2008) 1.07
ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. J Neurol (2014) 1.07
Glycogen synthase (GYS1) mutation causes a novel skeletal muscle glycogenosis. Genomics (2008) 1.06