Mitochondrial DNA mutations in disease and aging
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[1] F. Sterky,et al. Age-associated mosaic respiratory chain deficiency causes trans-neuronal degeneration , 2008, Human molecular genetics.
[2] E. Shoubridge,et al. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA , 1996, Nature Genetics.
[3] J. Nunnari. The machines that divide and fuse mitochondria , 2007, Annual review of biochemistry.
[4] H. Yonekawa,et al. Maternally transmitted histocompatibility antigen of mice: A hydrophobic peptide of a mitochondrially encoded protein , 1990, Cell.
[5] D. Chan,et al. Functions and dysfunctions of mitochondrial dynamics , 2007, Nature Reviews Molecular Cell Biology.
[6] Takahiko Hara,et al. The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells , 2007, Nature Genetics.
[7] T. Shutt,et al. Bacteriophage origins of mitochondrial replication and transcription proteins. , 2006, Trends in genetics : TIG.
[8] Jens C. Brüning,et al. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression , 1999, Nature Genetics.
[9] D. Rousseau,et al. The Layered Structure of Human Mitochondrial DNA Nucleoids* , 2008, Journal of Biological Chemistry.
[10] Howard T. Jacobs,et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase , 2004, Nature.
[11] G. Shadel,et al. Multiple Interactions Involving the Amino-terminal Domain of Yeast mtRNA Polymerase Determine the Efficiency of Mitochondrial Protein Synthesis* , 2003, The Journal of Biological Chemistry.
[12] C. Gustafsson,et al. Mitochondrial RNA polymerase is needed for activation of the origin of light-strand DNA replication. , 2010, Molecular cell.
[13] D. Chan,et al. Physiological functions of mitochondrial fusion , 2010, Annals of the New York Academy of Sciences.
[14] B. Kaufman,et al. Aconitase Couples Metabolic Regulation to Mitochondrial DNA Maintenance , 2005, Science.
[15] D. Wallace,et al. A mitochondrial paradigm for degenerative diseases and ageing. , 2001, Novartis Foundation symposium.
[16] T. Samuelsson,et al. Structure of mitochondrial transcription termination factor 3 reveals a novel nucleic acid-binding domain. , 2010, Biochemical and biophysical research communications.
[17] N. Larsson. Somatic mitochondrial DNA mutations in mammalian aging. , 2010, Annual review of biochemistry.
[18] Max Ingman,et al. Ultra-Deep Sequencing of Mouse Mitochondrial DNA: Mutational Patterns and Their Origins , 2011, PLoS genetics.
[19] A. Karlsson,et al. Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice. , 2008, Human molecular genetics.
[20] M. Parisi,et al. DNA wrapping and bending by a mitochondrial high mobility group-like transcriptional activator protein. , 1992, The Journal of biological chemistry.
[21] G. Barsh,et al. Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice , 1998, Nature Genetics.
[22] D. A. Clayton,et al. Replication of mitochondrial DNA occurs by strand displacement with alternative light-strand origins, not via a strand-coupled mechanism. , 2005, Genes & development.
[23] D. Sankoff,et al. An ancestral mitochondrial DNA resembling a eubacterial genome in miniature , 1997, Nature.
[24] D. Wallace,et al. Mitochondria and cancer: Warburg addressed. , 2005, Cold Spring Harbor symposia on quantitative biology.
[25] J. Allen. Why Chloroplasts and Mitochondria Contain Genomes , 2003, Comparative and functional genomics.
[26] C. Graff,et al. Impaired insulin secretion and β-cell loss in tissue-specific knockout mice with mitochondrial diabetes , 2000, Nature Genetics.
[27] H. Jacobs,et al. Coupled Leading- and Lagging-Strand Synthesis of Mammalian Mitochondrial DNA , 2000, Cell.
[28] R. Youle,et al. Parkin-induced mitophagy in the pathogenesis of Parkinson disease , 2009, Autophagy.
[29] K. Sunagawa,et al. Overexpression of Mitochondrial Transcription Factor A Ameliorates Mitochondrial Deficiencies and Cardiac Failure After Myocardial Infarction , 2005, Circulation.
[30] Kjell Hultenby,et al. Mitochondrial transcription factor A regulates mtDNA copy number in mammals. , 2004, Human molecular genetics.
[31] H. Westerblad,et al. Abnormal Ca(2+) release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy. , 2005, Human molecular genetics.
[32] P. Rustin,et al. Late-Onset Corticohippocampal Neurodepletion Attributable to Catastrophic Failure of Oxidative Phosphorylation in MILON Mice , 2001, The Journal of Neuroscience.
[33] Santiago Costantino,et al. The mitochondrial transcription factor TFAM coordinates the assembly of multiple DNA molecules into nucleoid-like structures. , 2007, Molecular biology of the cell.
[34] D. Temiakov,et al. TFB2 Is a Transient Component of the Catalytic Site of the Human Mitochondrial RNA Polymerase , 2009, Cell.
[35] H. Sandoval,et al. Essential role for Nix in autophagic maturation of erythroid cells , 2008, Nature.
[36] C. Gustafsson,et al. DNA replication and transcription in mammalian mitochondria. , 2007, Annual review of biochemistry.
[37] A. M. van der Bliek,et al. Composition and dynamics of human mitochondrial nucleoids. , 2003, Molecular biology of the cell.
[38] H. Westerblad,et al. Increased mitochondrial Ca2+ and decreased sarcoplasmic reticulum Ca2+ in mitochondrial myopathy. , 2009, Human molecular genetics.
[39] E. Shoubridge,et al. Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation , 2010, PLoS genetics.
[40] Y. Yin,et al. Structural Insight into Processive Human Mitochondrial DNA Synthesis and Disease-Related Polymerase Mutations , 2009, Cell.
[41] B. Spiegelman,et al. Increased muscle PGC-1α expression protects from sarcopenia and metabolic disease during aging , 2009, Proceedings of the National Academy of Sciences.
[42] R. Youle,et al. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy , 2008, The Journal of cell biology.
[43] Michael P. Murphy,et al. How mitochondria produce reactive oxygen species , 2008, The Biochemical journal.
[44] W. Dauer,et al. Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance. , 2008, Human molecular genetics.
[45] H. Yonekawa,et al. Over-expression of Tfam improves the mitochondrial disease phenotypes in a mouse model system. , 2010, Biochemical and biophysical research communications.
[46] R. Menzies,et al. The turnover of mitochondria in a variety of tissues of young adult and aged rats. , 1971, The Journal of biological chemistry.
[47] J. Carrodeguas,et al. Crystal Structure and Deletion Analysis Show that the Accessory Subunit of Mammalian DNA Polymerase γ, PolγB, Functions as a Homodimer , 2001 .
[48] R. Crouch,et al. Failure to produce mitochondrial DNA results in embryonic lethality in Rnaseh1 null mice. , 2003, Molecular cell.
[49] Yusuke Nakamura,et al. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion , 2007, Nature Genetics.
[50] G. Shadel,et al. Human Mitochondrial Transcription Factor B1 Interacts with the C-Terminal Activation Region of h-mtTFA and Stimulates Transcription Independently of Its RNA Methyltransferase Activity , 2003, Molecular and Cellular Biology.
[51] J. Montoya,et al. The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units , 1983, Cell.
[52] G. Shadel,et al. A compendium of human mitochondrial gene expression machinery with links to disease , 2010, Environmental and molecular mutagenesis.
[53] G. Comi,et al. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria , 2001, Nature Genetics.
[54] Laura C. Greaves,et al. The ageing mitochondrial genome , 2007, Nucleic acids research.
[55] H. Westerblad,et al. Increased mitochondrial mass in mitochondrial myopathy mice , 2002, Proceedings of the National Academy of Sciences of the United States of America.
[56] P. Chinnery,et al. Reassessing evidence for a postnatal mitochondrial genetic bottleneck , 2010, Nature Genetics.
[57] Jan Nedergaard,et al. Random point mutations with major effects on protein-coding genes are the driving force behind premature aging in mtDNA mutator mice. , 2009, Cell metabolism.
[58] J. Elson,et al. Strong Purifying Selection in Transmission of Mammalian Mitochondrial DNA , 2008, PLoS biology.
[59] B. Lang,et al. Mitochondrial genomes: anything goes. , 2003, Trends in genetics : TIG.
[60] P. Rustin,et al. Increased in vivo apoptosis in cells lacking mitochondrial DNA gene expression , 2001, Proceedings of the National Academy of Sciences of the United States of America.
[61] Albert Sickmann,et al. The proteome of Saccharomyces cerevisiae mitochondria , 2003, Proceedings of the National Academy of Sciences of the United States of America.
[62] A. Munnich,et al. Clinical spectrum and diagnosis of mitochondrial disorders. , 2001, American journal of medical genetics.
[63] A. Paetau,et al. Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[64] S. Yorifuji,et al. [Deletions of mitochondrial DNA in Kearns-Sayre syndrome]. , 1993, Nihon rinsho. Japanese journal of clinical medicine.
[65] M. Falkenberg,et al. Structure Casts Light on mtDNA Replication , 2009, Cell.
[66] N. Ashley,et al. Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number. , 2004, Human molecular genetics.
[67] 福家 聡,et al. DNA deletions and clonal mutations drive premature aging in mitochondrial mutator mice , 2008 .
[68] D. Wallace,et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. , 1988, Science.
[69] H. Yonekawa,et al. The innate immune system in host mice targets cells with allogenic mitochondrial DNA , 2010, The Journal of experimental medicine.
[70] Atsushi Tanaka,et al. PINK1 Is Selectively Stabilized on Impaired Mitochondria to Activate Parkin , 2010, PLoS biology.
[71] S. Duvezin-Caubet,et al. Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology* , 2006, Journal of Biological Chemistry.
[72] E. Holme,et al. Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome. , 1992, American journal of human genetics.
[73] C R Woese,et al. Mitochondrial origins. , 1985, Proceedings of the National Academy of Sciences of the United States of America.
[74] M. Zeviani,et al. Mitochondrial disorders. , 2004, Brain : a journal of neurology.
[75] T. Prolla,et al. The mtDNA mutation spectrum of the progeroid Polg mutator mouse includes abundant control region multimers. , 2010, Cell metabolism.
[76] B. J. Alpers. DIFFUSE PROGRESSIVE DEGENERATION OF THE GRAY MATTER OF THE CEREBRUM , 1931 .
[77] E. Shoubridge,et al. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes , 2008, Nature Genetics.
[78] G. Attardi,et al. Termination of transcription in human mitochondria: Identification and purification of a DNA binding protein factor that promotes termination , 1989, Cell.
[79] T. Sicheritz-Pontén,et al. The genome sequence of Rickettsia prowazekii and the origin of mitochondria , 1998, Nature.
[80] H. Jacobs,et al. Somatic mtDNA mutations cause aging phenotypes without affecting reactive oxygen species production. , 2005, Proceedings of the National Academy of Sciences of the United States of America.
[81] B. Spiegelman,et al. Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype. , 2008, Cell metabolism.
[82] David C Samuels,et al. A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes , 2008, Nature Genetics.
[83] J. Hayashi,et al. [Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes]. , 2001, Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme.
[84] D. Turnbull,et al. Do mtDNA deletions drive premature aging in mtDNA mutator mice? , 2009, Aging cell.
[85] S. Dimauro,et al. Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region , 1991, Molecular and cellular biology.
[86] D. Wallace,et al. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. , 2000, Proceedings of the National Academy of Sciences of the United States of America.
[87] B. Canlon,et al. Somatic mtDNA mutations cause progressive hearing loss in the mouse. , 2007, Experimental cell research.
[88] T. D. Pugh,et al. Mitochondrial DNA Mutations, Oxidative Stress, and Apoptosis in Mammalian Aging , 2005, Science.
[89] J. Griffith,et al. Termination Factor-Mediated DNA Loop between Termination and Initiation Sites Drives Mitochondrial rRNA Synthesis , 2005, Cell.
[90] J. Elson,et al. Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease , 2008, Nature Reviews Genetics.
[91] H. Endo,et al. Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells. , 2006, Human molecular genetics.
[92] D. A. Clayton,et al. Similarity of human mitochondrial transcription factor 1 to high mobility group proteins. , 1991, Science.
[93] M. García-Díaz,et al. Mitochondrial transcription , 2011, Transcription.
[94] A. Harding,et al. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies , 1988, Nature.
[95] J. Poulton,et al. Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease , 1999, Nature Medicine.
[96] John Calvin Reed,et al. Bcl-2 blocks apoptosis in cells lacking mitochondrial DNA , 1993, Nature.
[97] E. Shoubridge,et al. Selection of a mtDNA sequence variant in hepatocytes of heteroplasmic mice is not due to differences in respiratory chain function or efficiency of replication. , 2001, Human molecular genetics.
[98] D. Wallace. Why do we still have a maternally inherited mitochondrial DNA? Insights from evolutionary medicine. , 2007, Annual review of biochemistry.
[99] D. A. Clayton,et al. Replication and transcription of vertebrate mitochondrial DNA. , 1991, Annual review of cell biology.
[100] H. Cann,et al. Maternal inheritance of human mitochondrial DNA. , 1980, Proceedings of the National Academy of Sciences of the United States of America.
[101] H. Erdjument-Bromage,et al. MTERF2 is a nucleoid component in mammalian mitochondria. , 2009, Biochimica et biophysica acta.
[102] Hiroyuki Tsutsui,et al. High mitochondrial DNA copy number has detrimental effects in mice. , 2010, Human molecular genetics.
[103] Yusuke Nakamura,et al. Impaired function of p53R2 in Rrm2b-null mice causes severe renal failure through attenuation of dNTP pools , 2003, Nature Genetics.
[104] C. Gustafsson,et al. Human Mitochondrial Transcription Revisited , 2010, The Journal of Biological Chemistry.
[105] T. Prolla,et al. Mice expressing an error-prone DNA polymerase in mitochondria display elevated replication pausing and chromosomal breakage at fragile sites of mitochondrial DNA , 2009, Nucleic acids research.
[106] T. Shutt,et al. Homologs of mitochondrial transcription factor B, sparsely distributed within the eukaryotic radiation, are likely derived from the dimethyladenosine methyltransferase of the mitochondrial endosymbiont. , 2006, Molecular biology and evolution.
[107] D. A. Clayton,et al. Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle , 1977, Cell.
[108] H. Yonekawa,et al. New Evidence Confirms That the Mitochondrial Bottleneck Is Generated without Reduction of Mitochondrial DNA Content in Early Primordial Germ Cells of Mice , 2009, PLoS genetics.
[109] A. Trifunovic,et al. Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis. , 2005, Human molecular genetics.
[110] A. Bokov,et al. The role of oxidative damage and stress in aging , 2004, Mechanisms of Ageing and Development.
[111] A. Torraco,et al. mTERF2 regulates oxidative phosphorylation by modulating mtDNA transcription. , 2009, Cell metabolism.
[112] J. Carrodeguas,et al. Crystal structure and deletion analysis show that the accessory subunit of mammalian DNA polymerase gamma, Pol gamma B, functions as a homodimer. , 2001, Molecular cell.
[113] Yonghong Shi,et al. Methylation of 12S rRNA is necessary for in vivo stability of the small subunit of the mammalian mitochondrial ribosome. , 2009, Cell metabolism.
[114] S. Kuroda,et al. Overexpression of mitochondrial transcription factor A (TFAM) ameliorates delayed neuronal death due to transient forebrain ischemia in mice , 2010, Neuropathology : official journal of the Japanese Society of Neuropathology.
[115] Eva Lindqvist,et al. Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons , 2007, Proceedings of the National Academy of Sciences.
[116] D. A. Clayton,et al. Replication of animal mitochondrial DNA , 1982, Cell.
[117] D. Leigh. SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT , 1951, Journal of neurology, neurosurgery, and psychiatry.
[118] H. Jacobs,et al. Replication of vertebrate mitochondrial DNA entails transient ribonucleotide incorporation throughout the lagging strand , 2006, The EMBO journal.
[119] E. Holme,et al. Neuropathology in Kearns-Sayre syndrome , 2004, Acta Neuropathologica.
[120] W. Hauswirth,et al. Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop , 1983, Nature.
[121] Yan Li,et al. Mice deficient in both Mn superoxide dismutase and glutathione peroxidase-1 have increased oxidative damage and a greater incidence of pathology but no reduction in longevity. , 2009, The journals of gerontology. Series A, Biological sciences and medical sciences.
[122] C. Hutchison,et al. Maternal inheritance of mammalian mitochondrial DNA , 1974, Nature.
[123] H. Erdjument-Bromage,et al. MTERF3 Is a Negative Regulator of Mammalian mtDNA Transcription , 2007, Cell.
[124] M. Vannan,et al. A Mouse Model of Mitochondrial Disease Reveals Germline Selection Against Severe mtDNA Mutations , 2008, Science.
[125] S. Srivastava,et al. Double-strand breaks of mouse muscle mtDNA promote large deletions similar to multiple mtDNA deletions in humans. , 2005, Human molecular genetics.
[126] M. García-Díaz,et al. Helix Unwinding and Base Flipping Enable Human MTERF1 to Terminate Mitochondrial Transcription , 2010, Cell.
[127] Linda Partridge,et al. Unraveling the biological roles of reactive oxygen species. , 2011, Cell metabolism.
[128] J. Clarke,et al. Medicine , 1907, Bristol medico-chirurgical journal.
[129] N. Larsson,et al. Molecular genetic aspects of human mitochondrial disorders. , 1995, Annual review of genetics.
[130] C. Perreault,et al. The COI mitochondrial gene encodes a minor histocompatibility antigen presented by H2-M3. , 1996, Journal of immunology.
[131] P. Thorsness,et al. Escape of DNA from mitochondria to the nucleus in Saccharomyces cerevisiae , 1990, Nature.
[132] E. Holme,et al. Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome , 1990, Pediatric Research.
[133] E. Shoubridge,et al. Sidestepping Mutational Meltdown , 2008, Science.
[134] C. Gustafsson,et al. Mitochondrial transcription factors B1 and B2 activate transcription of human mtDNA , 2002, Nature Genetics.
[135] T. Kuroiwa,et al. Organization of multiple nucleoids and DNA molecules in mitochondria of a human cell. , 1991, Experimental cell research.
[136] P. Frachon,et al. Organization and dynamics of human mitochondrial DNA , 2004, Journal of Cell Science.
[137] R. Youle,et al. Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells , 2010, Proceedings of the National Academy of Sciences.