메뉴 건너뛰기




Volumn 123, Issue 4, 2013, Pages 1405-1412

A mitochondrial bioenergetic etiology of disease

Author keywords

[No Author keywords available]

Indexed keywords

CELL NUCLEUS DNA; FORMYLMETHIONINE; MITOCHONDRIAL DNA; REACTIVE OXYGEN METABOLITE;

EID: 84875868055     PISSN: 00219738     EISSN: 15588238     Source Type: Journal    
DOI: 10.1172/JCI61398     Document Type: Article
Times cited : (261)

References (97)
  • 1
    • 23844558266 scopus 로고    scopus 로고
    • A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine
    • Wallace DC. A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: A dawn for evolutionary medicine. Annu Rev Genet. 2005;39:359-407.
    • (2005) Annu Rev Genet. , vol.39 , pp. 359-407
    • Wallace, D.C.1
  • 2
    • 34548614520 scopus 로고    scopus 로고
    • Why do we have a maternally inherited mitochondrial DNA? Insights from Evolutionary Medicine
    • Wallace DC. Why do we have a maternally inherited mitochondrial DNA? Insights from Evolutionary Medicine. Annu Rev Biochem. 2007;76:781-821.
    • (2007) Annu Rev Biochem. , vol.76 , pp. 781-821
    • Wallace, D.C.1
  • 3
    • 84875845045 scopus 로고    scopus 로고
    • Mitochondrial medicine: The mitochondrial biology and genetics of metabolic and degenerative diseases, cancer, and aging
    • Rimoin DL, Pyeritz RE, Korf BR, eds. Philadelphia, Pennsylvania, USA: Churchill Livingstone Elsevier
    • Wallace DC, Lott MT, Procaccio V. Mitochondrial medicine: The mitochondrial biology and genetics of metabolic and degenerative diseases, cancer, and aging. In: Rimoin DL, Pyeritz RE, Korf BR, eds. Emery and Rimoin's Principles and Practice of Medical Genetics. Philadelphia, Pennsylvania, USA: Churchill Livingstone Elsevier; 2013.
    • (2013) Emery and Rimoin's Principles and Practice of Medical Genetics
    • Wallace, D.C.1    Lott, M.T.2    Procaccio, V.3
  • 4
    • 0024242545 scopus 로고
    • Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
    • Wallace DC, et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science. 1988;242(4884):1427-1430.
    • (1988) Science. , vol.242 , Issue.4884 , pp. 1427-1430
    • Wallace, D.C.1
  • 5
    • 33846094306 scopus 로고    scopus 로고
    • An enhanced MITOMAP with a global mtDNA mutational phylogeny
    • (database issue)
    • Ruiz-Pesini E, et al. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res. 2007;35(database issue):D823-D828.
    • (2007) Nucleic Acids Res. , vol.35
    • Ruiz-Pesini, E.1
  • 7
    • 0024163051 scopus 로고
    • Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease
    • Wallace DC, et al. Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease. Cell. 1988;55(4):601-610.
    • (1988) Cell. , vol.55 , Issue.4 , pp. 601-610
    • Wallace, D.C.1
  • 8
    • 0025368281 scopus 로고
    • Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation
    • Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation. Cell. 1990;61(6):931-937.
    • (1990) Cell. , vol.61 , Issue.6 , pp. 931-937
    • Shoffner, J.M.1    Lott, M.T.2    Lezza, A.M.3    Seibel, P.4    Ballinger, S.W.5    Wallace, D.C.6
  • 9
    • 0025666322 scopus 로고
    • A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
    • Goto Y, Nonaka I, Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature. 1990;348(6302):651-653.
    • (1990) Nature. , vol.348 , Issue.6302 , pp. 651-653
    • Goto, Y.1    Nonaka, I.2    Horai, S.3
  • 10
    • 49849088591 scopus 로고    scopus 로고
    • Mitochondria as chi
    • Wallace DC. Mitochondria as chi. Genetics. 2008;179(2):727-735.
    • (2008) Genetics. , vol.179 , Issue.2 , pp. 727-735
    • Wallace, D.C.1
  • 11
    • 77955364142 scopus 로고    scopus 로고
    • Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups
    • Gomez-Duran A, et al. Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet. 2010;19(17):3343-3353.
    • (2010) Hum Mol Genet. , vol.19 , Issue.17 , pp. 3343-3353
    • Gomez-Duran, A.1
  • 12
    • 39349105943 scopus 로고    scopus 로고
    • A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations
    • Fan W, et al. A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations. Science. 2008;319(5865):958-962.
    • (2008) Science. , vol.319 , Issue.5865 , pp. 958-962
    • Fan, W.1
  • 13
    • 49949119847 scopus 로고    scopus 로고
    • Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease
    • Stewart JB, Freyer C, Elson JL, Larsson NG. Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease. Nat Rev Genet. 2008;9(9):657-662.
    • (2008) Nat Rev Genet. , vol.9 , Issue.9 , pp. 657-662
    • Stewart, J.B.1    Freyer, C.2    Elson, J.L.3    Larsson, N.G.4
  • 14
    • 0028574053 scopus 로고
    • Mitochondrial DNA sequence variation in human evolution and disease
    • Wallace DC. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci U S A. 1994;91(19):8739-8746.
    • (1994) Proc Natl Acad Sci U S A. , vol.91 , Issue.19 , pp. 8739-8746
    • Wallace, D.C.1
  • 15
    • 0032833421 scopus 로고    scopus 로고
    • Mitochondrial DNA variation in human evolution and disease
    • Wallace DC, Brown MD, Lott MT. Mitochondrial DNA variation in human evolution and disease. Gene. 1999;238(1):211-230.
    • (1999) Gene. , vol.238 , Issue.1 , pp. 211-230
    • Wallace, D.C.1    Brown, M.D.2    Lott, M.T.3
  • 16
    • 33748087125 scopus 로고    scopus 로고
    • Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics
    • Kazuno AA, et al. Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLoS Genet. 2006;2(8):e128.
    • (2006) PLoS Genet , vol.2 , Issue.8
    • Kazuno, A.A.1
  • 17
    • 0027200741 scopus 로고
    • Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients
    • Shoffner JM, et al. Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients. Genomics. 1993;17(1):171-184.
    • (1993) Genomics. , vol.17 , Issue.1 , pp. 171-184
    • Shoffner, J.M.1
  • 18
    • 0028788493 scopus 로고
    • Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations
    • Brown MD, Torroni A, Reckord CL, Wallace DC. Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutat. 1995;6(4):311-325.
    • (1995) Hum Mutat. , vol.6 , Issue.4 , pp. 311-325
    • Brown, M.D.1    Torroni, A.2    Reckord, C.L.3    Wallace, D.C.4
  • 19
    • 67349269486 scopus 로고    scopus 로고
    • Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation
    • Liang M, et al. Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation. Biochem Biophys Res Commun. 2009;383(3):286-292.
    • (2009) Biochem Biophys Res Commun. , vol.383 , Issue.3 , pp. 286-292
    • Liang, M.1
  • 20
    • 84860806864 scopus 로고    scopus 로고
    • Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans
    • Ji F, et al. Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. Proc Natl Acad Sci U S A. 2012;109(19):7391-7396.
    • (2012) Proc Natl Acad Sci U S A. , vol.109 , Issue.19 , pp. 7391-7396
    • Ji, F.1
  • 21
    • 62849119061 scopus 로고    scopus 로고
    • Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder
    • Rollins B, et al. Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. PLoS One. 2009;4(3):e4913.
    • (2009) PLoS One , vol.4 , Issue.3
    • Rollins, B.1
  • 22
    • 57349130113 scopus 로고    scopus 로고
    • A mitochondrial etiology of neurodegenerative diseases: Evidence from Parkinson's disease
    • Khusnutdinova E, et al. A mitochondrial etiology of neurodegenerative diseases: Evidence from Parkinson's disease. Ann N Y Acad Sci. 2008;1147:1-20.
    • (2008) Ann N Y Acad Sci. , vol.1147 , pp. 1-20
    • Khusnutdinova, E.1
  • 23
    • 33847191391 scopus 로고    scopus 로고
    • Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians
    • Fuku N, et al. Mitochondrial haplogroup N9a confers resistance against type 2 diabetes in Asians. Am J Hum Genet. 2007;80(3):407-415.
    • (2007) Am J Hum Genet. , vol.80 , Issue.3 , pp. 407-415
    • Fuku, N.1
  • 24
    • 0023883150 scopus 로고
    • Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
    • Holt IJ, Harding AE, Morgan-Hughes JA. Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature. 1988; 331(6158):717-719.
    • (1988) Nature. , vol.331 , Issue.6158 , pp. 717-719
    • Holt, I.J.1    Harding, A.E.2    Morgan-Hughes, J.A.3
  • 25
    • 0000278613 scopus 로고
    • Accumulation of mitochondrial DNA mutation in normal aging brain and muscle
    • DiMauro S, Wallace DS, eds. New York, New York, USA: Raven Press
    • Cortopassi G, Arnheim N. Accumulation of mitochondrial DNA mutation in normal aging brain and muscle. In: DiMauro S, Wallace DS, eds. Mitochondrial DNA in Human Pathology. New York, New York, USA: Raven Press; 1992:125-136.
    • (1992) Mitochondrial DNA in Human Pathology , pp. 125-136
    • Cortopassi, G.1    Arnheim, N.2
  • 26
    • 0027017232 scopus 로고
    • Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age
    • Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, Beal MF, Wallace DC. Mitochondrial DNA deletions in human brain: Regional variability and increase with advanced age. Nat Genet. 1992;2(4):324-329.
    • (1992) Nat Genet. , vol.2 , Issue.4 , pp. 324-329
    • Corral-Debrinski, M.1    Horton, T.2    Lott, M.T.3    Shoffner, J.M.4    Beal, M.F.5    Wallace, D.C.6
  • 27
    • 0027021442 scopus 로고
    • Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain
    • Soong NW, Hinton DR, Cortopassi G, Arnheim N. Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat Genet. 1992;2(4):318-323.
    • (1992) Nat Genet. , vol.2 , Issue.4 , pp. 318-323
    • Soong, N.W.1    Hinton, D.R.2    Cortopassi, G.3    Arnheim, N.4
  • 28
    • 84870839107 scopus 로고    scopus 로고
    • Mitochondrial mutations and polymorphisms in psychiatric disorders
    • Sequeira A, et al. Mitochondrial mutations and polymorphisms in psychiatric disorders. Front Genet. 2012;3:103.
    • (2012) Front Genet. , Issue.3 , pp. 103
    • Sequeira, A.1
  • 29
    • 0033595684 scopus 로고    scopus 로고
    • Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication
    • Michikawa Y, Mazzucchelli F, Bresolin N, Scarlato G, Attardi G. Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science. 1999;286(5440):774-779.
    • (1999) Science. , vol.286 , Issue.5440 , pp. 774-779
    • Michikawa, Y.1    Mazzucchelli, F.2    Bresolin, N.3    Scarlato, G.4    Attardi, G.5
  • 30
    • 0034327572 scopus 로고    scopus 로고
    • The agerelated accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method
    • Murdock DG, Christacos NC, Wallace DC. The agerelated accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method. Nucleic Acids Res. 2000;28(21):4350-4355.
    • (2000) Nucleic Acids Res. , vol.28 , Issue.21 , pp. 4350-4355
    • Murdock, D.G.1    Christacos, N.C.2    Wallace, D.C.3
  • 31
    • 2642580016 scopus 로고    scopus 로고
    • Premature ageing in mice expressing defective mitochondrial DNA polymerase
    • Trifunovic A, et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature. 2004;429(6990):417-423.
    • (2004) Nature. , vol.429 , Issue.6990 , pp. 417-423
    • Trifunovic, A.1
  • 32
    • 22344456832 scopus 로고    scopus 로고
    • Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging
    • Kujoth GC, et al. Mitochondrial DNA mutations, oxidative stress, and apoptosis in mammalian aging. Science. 2005;309(5733):481-484.
    • (2005) Science. , vol.309 , Issue.5733 , pp. 481-484
    • Kujoth, G.C.1
  • 33
    • 21144434217 scopus 로고    scopus 로고
    • Extension of murine life span by overexpression of catalase targeted to mitochondria
    • Schriner SE, et al. Extension of murine life span by overexpression of catalase targeted to mitochondria. Science. 2005;308(5730):1909-1911.
    • (2005) Science. , vol.308 , Issue.5730 , pp. 1909-1911
    • Schriner, S.E.1
  • 34
    • 0026074885 scopus 로고
    • Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease
    • Corral-Debrinski M, Stepien G, Shoffner JM, Lott MT, Kanter K, Wallace DC. Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease. JAMA. 1991;266(13):1812-1816.
    • (1991) JAMA. , vol.266 , Issue.13 , pp. 1812-1816
    • Corral-Debrinski, M.1    Stepien, G.2    Shoffner, J.M.3    Lott, M.T.4    Kanter, K.5    Wallace, D.C.6
  • 35
    • 0027933135 scopus 로고
    • Marked changes in mitochondrial DNA deletion levels in Alzheimer brains
    • Corral-Debrinski M, et al. Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics. 1994;23(2):471-476.
    • (1994) Genomics. , vol.23 , Issue.2 , pp. 471-476
    • Corral-Debrinski, M.1
  • 36
    • 3242668604 scopus 로고    scopus 로고
    • Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication
    • Coskun PE, Beal MF, Wallace DC. Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci U S A. 2004;101(29):10726-10731.
    • (2004) Proc Natl Acad Sci U S A. , vol.101 , Issue.29 , pp. 10726-10731
    • Coskun, P.E.1    Beal, M.F.2    Wallace, D.C.3
  • 37
    • 77956197653 scopus 로고    scopus 로고
    • Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia
    • Coskun PE, et al. Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia. J Alzheimers Dis. 2010;20(suppl 2):S293-S310.
    • (2010) J Alzheimers Dis. , vol.20 , Issue.SUPPL. 2
    • Coskun, P.E.1
  • 38
    • 84859421209 scopus 로고    scopus 로고
    • A mitochondrial etiology of Alzheimer and Parkinson disease
    • Coskun P, et al. A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta. 2011;1820(5):553-564.
    • (2011) Biochim Biophys Acta. , vol.1820 , Issue.5 , pp. 553-564
    • Coskun, P.1
  • 39
    • 33646375711 scopus 로고    scopus 로고
    • High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
    • Bender A, et al. High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat Genet. 2006;38(5):515-517.
    • (2006) Nat Genet. , vol.38 , Issue.5 , pp. 515-517
    • Bender, A.1
  • 40
    • 0029431871 scopus 로고
    • Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of huntington's disease patients
    • Horton TM, et al. Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's Disease patients. Neurology. 1995; 45(10):1879-1883.
    • (1995) Neurology. , vol.45 , Issue.10 , pp. 1879-1883
    • Horton, T.M.1
  • 41
    • 77950275298 scopus 로고    scopus 로고
    • Circulating mitochondrial DAMPs cause inflammatory responses to injury
    • Zhang Q, et al. Circulating mitochondrial DAMPs cause inflammatory responses to injury. Nature. 2010;464(7285):104-107.
    • (2010) Nature. , vol.464 , Issue.7285 , pp. 104-107
    • Zhang, Q.1
  • 42
    • 79953068336 scopus 로고    scopus 로고
    • Emerging role of damage-associated molecular patterns derived from mitochondria in inflammation
    • Krysko DV, et al. Emerging role of damage-associated molecular patterns derived from mitochondria in inflammation. Trends Immunol. 2011;32(4):157-164.
    • (2011) Trends Immunol. , vol.32 , Issue.4 , pp. 157-164
    • Krysko, D.V.1
  • 43
    • 84860705893 scopus 로고    scopus 로고
    • Mitochondrial DNA that escapes from autophagy causes inflammation and heart failure
    • Oka T, et al. Mitochondrial DNA that escapes from autophagy causes inflammation and heart failure. Nature. 2012;485(7397):251-255.
    • (2012) Nature. , vol.485 , Issue.7397 , pp. 251-255
    • Oka, T.1
  • 45
    • 0034943967 scopus 로고    scopus 로고
    • Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    • Van Goethem G, Dermaut B, Lofgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet. 2001;28(3):211-212.
    • (2001) Nat Genet. , vol.28 , Issue.3 , pp. 211-212
    • Van Goethem, G.1    Dermaut, B.2    Lofgren, A.3    Martin, J.J.4    Van Broeckhoven, C.5
  • 46
    • 0034938364 scopus 로고    scopus 로고
    • Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
    • Spelbrink JN, et al. 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;28(3):223-231.
    • (2001) Nat Genet. , vol.28 , Issue.3 , pp. 223-231
    • Spelbrink, J.N.1
  • 47
    • 0035183256 scopus 로고    scopus 로고
    • The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
    • Mandel H, et al. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet. 2001;29(3):337-341.
    • (2001) Nat Genet. , vol.29 , Issue.3 , pp. 337-341
    • Mandel, H.1
  • 48
    • 0035179561 scopus 로고    scopus 로고
    • Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
    • Saada A, Shaag A, Mandel H, Nevo Y, Eriksson S, Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat Genet. 2001;29(3):342-344.
    • (2001) Nat Genet. , vol.29 , Issue.3 , pp. 342-344
    • Saada, A.1    Shaag, A.2    Mandel, H.3    Nevo, Y.4    Eriksson, S.5    Elpeleg, O.6
  • 49
    • 0033613865 scopus 로고    scopus 로고
    • Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
    • Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999;283(5402):689-692.
    • (1999) Science. , vol.283 , Issue.5402 , pp. 689-692
    • Nishino, I.1    Spinazzola, A.2    Hirano, M.3
  • 50
    • 0034604506 scopus 로고    scopus 로고
    • Role of adenine nucleotide translocator 1 in mtDNA maintenance
    • Kaukonen J, et al. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science. 2000;289(5480):782-785.
    • (2000) Science. , vol.289 , Issue.5480 , pp. 782-785
    • Kaukonen, J.1
  • 51
    • 27544494568 scopus 로고    scopus 로고
    • Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy
    • Palmieri L, et al. Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy. Hum Mol Genet. 2005; 14(20):3079-3088.
    • (2005) Hum Mol Genet. , vol.14 , Issue.20 , pp. 3079-3088
    • Palmieri, L.1
  • 52
    • 62149099561 scopus 로고    scopus 로고
    • A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease
    • Potluri P, et al. A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol Genet Metab. 2009;96(4):189-195.
    • (2009) Mol Genet Metab. , vol.96 , Issue.4 , pp. 189-195
    • Potluri, P.1
  • 53
    • 70450231612 scopus 로고    scopus 로고
    • Energetics, epigenetics, mitochondrial genetics
    • Wallace DC, Fan W. Energetics, epigenetics, mitochondrial genetics. Mitochondrion. 2010;10(1):12-31.
    • (2010) Mitochondrion. , vol.10 , Issue.1 , pp. 12-31
    • Wallace, D.C.1    Fan, W.2
  • 55
    • 84867417361 scopus 로고    scopus 로고
    • Bioenergetic origins of complexity and disease
    • Wallace DC. Bioenergetic origins of complexity and disease. Cold Spring Harb Symp Quant Biol. 2011;76:1-16.
    • (2011) Cold Spring Harb Symp Quant Biol. , Issue.76 , pp. 1-16
    • Wallace, D.C.1
  • 56
    • 77955398958 scopus 로고    scopus 로고
    • Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells
    • Suen DF, Narendra DP, Tanaka A, Manfredi G, Youle RJ. Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells. Proc Natl Acad Sci U S A. 2010;107(26):11835-11840.
    • (2010) Proc Natl Acad Sci U S A. , vol.107 , Issue.26 , pp. 11835-11840
    • Suen, D.F.1    Narendra, D.P.2    Tanaka, A.3    Manfredi, G.4    Youle, R.J.5
  • 57
    • 77951737783 scopus 로고    scopus 로고
    • Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations
    • Chen H, et al. Mitochondrial fusion is required for mtDNA stability in skeletal muscle and tolerance of mtDNA mutations. Cell. 2010;141(2):280-289.
    • (2010) Cell. , vol.141 , Issue.2 , pp. 280-289
    • Chen, H.1
  • 58
    • 33646351299 scopus 로고    scopus 로고
    • Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
    • Kraytsberg Y, Kudryavtseva E, McKee AC, Geula C, Kowall NW, Khrapko K. Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat Genet. 2006;38(5):518-520.
    • (2006) Nat Genet. , vol.38 , Issue.5 , pp. 518-520
    • Kraytsberg, Y.1    Kudryavtseva, E.2    McKee, A.C.3    Geula, C.4    Kowall, N.W.5    Khrapko, K.6
  • 59
    • 33644861975 scopus 로고    scopus 로고
    • Common structure and toxic function of amyloid oligomers implies a common mechanism of pathogenesis
    • Glabe CG, Kayed R. Common structure and toxic function of amyloid oligomers implies a common mechanism of pathogenesis. Neurology. 2006; 66(2 suppl 1):S74-S78.
    • (2006) Neurology. , vol.66 , Issue.2 SUPPL. 1
    • Glabe, C.G.1    Kayed, R.2
  • 60
    • 19944433571 scopus 로고    scopus 로고
    • Copper-dependent inhibition of human cytochrome c oxidase by a dimeric conformer of amyloid-beta1-42
    • Crouch PJ, et al. Copper-dependent inhibition of human cytochrome c oxidase by a dimeric conformer of amyloid-beta1-42. J Neurosci. 2005; 25(3):672-679.
    • (2005) J Neurosci. , vol.25 , Issue.3 , pp. 672-679
    • Crouch, P.J.1
  • 61
    • 77956203927 scopus 로고    scopus 로고
    • Is Alzheimer's disease a disorder of mitochondria-associated membranes?
    • Schon EA, Area-Gomez E. Is Alzheimer's disease a disorder of mitochondria-associated membranes? J Alzheimers Dis. 2010;20(suppl 2):S281-S292.
    • (2010) J Alzheimers Dis. , vol.20 , Issue.SUPPL. 2
    • Schon, E.A.1    Area-Gomez, E.2
  • 63
    • 31144448204 scopus 로고    scopus 로고
    • Medical aspects of autism
    • In: Volkmar FR Klin A Paul R Cohen DJ Eds. New York New York USA: John Wiley and Sons
    • Filipek PA. Medical aspects of autism. In: Volkmar FR, Klin A, Paul R, Cohen DJ, eds. Handbook of Autism and Pervasive Developmental Disorders. New York, New York, USA: John Wiley and Sons; 2005:534-578.
    • (2005) Handbook Of Autism And Pervasive Developmental Disorders , pp. 534-578
    • Filipek, P.A.1
  • 64
    • 42449098371 scopus 로고    scopus 로고
    • Mitochondrial energy-deficient endophenotype in autism
    • Gargus JJ, Imtiaz F. Mitochondrial energy-deficient endophenotype in autism. Am J Biochem Biotech. 2008;4(2):198-207.
    • (2008) Am J Biochem Biotech. , vol.4 , Issue.2 , pp. 198-207
    • Gargus, J.J.1    Imtiaz, F.2
  • 65
    • 78649758904 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in autism
    • Giulivi C, et al. Mitochondrial dysfunction in autism. JAMA. 2010;304(21):2389-2396.
    • (2010) JAMA. , vol.304 , Issue.21 , pp. 2389-2396
    • Giulivi, C.1
  • 66
    • 79953723451 scopus 로고    scopus 로고
    • Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism
    • Chauhan A, et al. Brain region-specific deficit in mitochondrial electron transport chain complexes in children with autism. J Neurochem. 2011;117(2):209-220.
    • (2011) J Neurochem. , vol.117 , Issue.2 , pp. 209-220
    • Chauhan, A.1
  • 67
    • 84864704318 scopus 로고    scopus 로고
    • Mitochondrial and ion channel gene alterations in autism
    • Smith M, et al. Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta. 2012;1817(10):1796-1802.
    • (2012) Biochim Biophys Acta. , vol.1817 , Issue.10 , pp. 1796-1802
    • Smith, M.1
  • 68
    • 72949098166 scopus 로고    scopus 로고
    • Altered calcium homeostasis in autism-spectrum disorders: Evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1
    • Palmieri L, et al. Altered calcium homeostasis in autism-spectrum disorders: Evidence from biochemical and genetic studies of the mitochondrial aspartate/glutamate carrier AGC1. Mol Psychiatry. 2010;15(1):38-52.
    • (2010) Mol Psychiatry. , vol.15 , Issue.1 , pp. 38-52
    • Palmieri, L.1
  • 69
    • 0019881041 scopus 로고
    • A comparative study of the regulation of Ca2+ of the activities of the 2-oxoglutarate dehydrogenase complex and NAD+-isocitrate dehydrogenase from a variety of sources
    • McCormack JG, Denton RM. A comparative study of the regulation of Ca2+ of the activities of the 2-oxoglutarate dehydrogenase complex and NAD+-isocitrate dehydrogenase from a variety of sources. Biochem J. 1981;196(2):619-624.
    • (1981) Biochem J. , vol.196 , Issue.2 , pp. 619-624
    • McCormack, J.G.1    Denton, R.M.2
  • 70
    • 0025319665 scopus 로고
    • Role of calcium ions in regulation of mammalian intramitochondrial metabolism
    • McCormack JG, Halestrap AP, Denton RM. Role of calcium ions in regulation of mammalian intramitochondrial metabolism. Physiol Rev. 1990;70(2):391-425.
    • (1990) Physiol Rev. , vol.70 , Issue.2 , pp. 391-425
    • McCormack, J.G.1    Halestrap, A.P.2    Denton, R.M.3
  • 71
    • 20444426877 scopus 로고    scopus 로고
    • Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
    • Splawski I, et al. Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005;102(23):8089-8096.
    • (2005) Proc Natl Acad Sci U S A. , vol.102 , Issue.23 , pp. 8089-8096
    • Splawski, I.1
  • 72
    • 79952254931 scopus 로고    scopus 로고
    • A population genetic approach to mapping neurological disorder genes using deep resequencing
    • Myers RA, et al. A population genetic approach to mapping neurological disorder genes using deep resequencing. PLoS Genet. 2011;7(2):e1001318.
    • (2011) PLoS Genet. , vol.7 , Issue.2
    • Myers, R.A.1
  • 73
    • 34247481814 scopus 로고    scopus 로고
    • Strong association of de novo copy number mutations with autism
    • Sebat J, et al. Strong association of de novo copy number mutations with autism. Science. 2007;316(5823):445-449.
    • (2007) Science. , vol.316 , Issue.5823 , pp. 445-449
    • Sebat, J.1
  • 74
    • 34547886497 scopus 로고    scopus 로고
    • A unified genetic theory for sporadic and inherited autism
    • Zhao X, et al. A unified genetic theory for sporadic and inherited autism. Proc Natl Acad Sci U S A. 2007;104(31):12831-12836.
    • (2007) Proc Natl Acad Sci U S A. , vol.104 , Issue.31 , pp. 12831-12836
    • Zhao, X.1
  • 75
    • 67349182343 scopus 로고    scopus 로고
    • Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
    • Glessner JT, et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature. 2009;459(7246):569-573.
    • (2009) Nature. , vol.459 , Issue.7246 , pp. 569-573
    • Glessner, J.T.1
  • 76
    • 84859009895 scopus 로고    scopus 로고
    • Rare structural variation of synapse and neurotransmission genes in autism
    • Gai X, et al. Rare structural variation of synapse and neurotransmission genes in autism. Mol Psychiatry. 2012;17(4):402-411.
    • (2012) Mol Psychiatry. , vol.17 , Issue.4 , pp. 402-411
    • Gai, X.1
  • 77
    • 58149314211 scopus 로고    scopus 로고
    • Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
    • Narendra D, Tanaka A, Suen DF, Youle RJ. Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol. 2008;183(5):795-803.
    • (2008) J Cell Biol. , vol.183 , Issue.5 , pp. 795-803
    • Narendra, D.1    Tanaka, A.2    Suen, D.F.3    Youle, R.J.4
  • 78
    • 78650211337 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
    • Su H, et al. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett. 2011;487(2):129-133.
    • (2011) Neurosci Lett. , vol.487 , Issue.2 , pp. 129-133
    • Su, H.1
  • 79
    • 44449090109 scopus 로고    scopus 로고
    • Parental psychiatric disorders associated with autism spectrum disorders in the offspring
    • Daniels JL, et al. Parental psychiatric disorders associated with autism spectrum disorders in the offspring. Pediatrics. 2008;121(5):e1357-e1362.
    • (2008) Pediatrics. , vol.121 , Issue.5
    • Daniels, J.L.1
  • 80
    • 84860347597 scopus 로고    scopus 로고
    • Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
    • Talkowski ME, et al. Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries. Cell. 2012;149(3):525-537.
    • (2012) Cell. , vol.149 , Issue.3 , pp. 525-537
    • Talkowski, M.E.1
  • 81
    • 79954578338 scopus 로고    scopus 로고
    • Beyond the serotonin hypothesis: Mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders
    • Gardner A, Boles RG. Beyond the serotonin hypothesis: Mitochondria, inflammation and neurodegeneration in major depression and affective spectrum disorders. Prog Neuropsychopharmacol Biol Psychiatry. 2011;35(3):730-743.
    • (2011) Prog Neuropsychopharmacol Biol Psychiatry. , vol.35 , Issue.3 , pp. 730-743
    • Gardner, A.1    Boles, R.G.2
  • 83
    • 84861809553 scopus 로고    scopus 로고
    • New evidence for the involvement of mitochondrial inheritance in schizophrenia: Results from a cross-sectional study evaluating the risk of illness in relatives of schizophrenia patients
    • Verge B, et al. New evidence for the involvement of mitochondrial inheritance in schizophrenia: Results from a cross-sectional study evaluating the risk of illness in relatives of schizophrenia patients. J Clin Psychiatry. 2012;73(5):684-690.
    • (2012) J Clin Psychiatry. , vol.73 , Issue.5 , pp. 684-690
    • Verge, B.1
  • 84
    • 68149099553 scopus 로고    scopus 로고
    • The pathophysiology of mitochondrial disease as modeled in the mouse
    • Wallace DC, Fan W. The pathophysiology of mitochondrial disease as modeled in the mouse. Genes Dev. 2009;23(15):1714-1736.
    • (2009) Genes Dev. , vol.23 , Issue.15 , pp. 1714-1736
    • Wallace, D.C.1    Fan, W.2
  • 85
    • 39349106253 scopus 로고    scopus 로고
    • Generating animal models of human mitochondrial genetic disease using mouse ES cells
    • Notarianni E, Evans MJ, eds. New York, New York, USA: Oxford University Press
    • MacGregor GR, Fan WW, Waymire KG, Wallace DC. Generating animal models of human mitochondrial genetic disease using mouse ES cells. In: Notarianni E, Evans MJ, eds. Embryonic Stem Cells. New York, New York, USA: Oxford University Press; 2006:72-104.
    • (2006) Embryonic Stem Cells. , pp. 72-104
    • MacGregor, G.R.1    Fan, W.W.2    Waymire, K.G.3    Wallace, D.C.4
  • 86
    • 0032780102 scopus 로고    scopus 로고
    • Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease
    • Marchington DR, Barlow D, Poulton J. Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: Developing the first mouse model of mitochondrial DNA disease. Nat Med. 1999;5(8):957-960.
    • (1999) Nat Med. , vol.5 , Issue.8 , pp. 957-960
    • Marchington, D.R.1    Barlow, D.2    Poulton, J.3
  • 87
    • 0034687797 scopus 로고    scopus 로고
    • Maternal germ-line transmission of mutant mtDNAs from embryonic stem cellderived chimeric mice
    • Sligh JE, et al. Maternal germ-line transmission of mutant mtDNAs from embryonic stem cellderived chimeric mice. Proc Natl Acad Sci U S A. 2000;97(26):14461-14466.
    • (2000) Proc Natl Acad Sci U S A. , vol.97 , Issue.26 , pp. 14461-14466
    • Sligh, J.E.1
  • 88
    • 38949091096 scopus 로고    scopus 로고
    • Strong purifying selection in transmission of mammalian mitochondrial DNA
    • Stewart JB, et al. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol. 2008;6(1):e10.
    • (2008) PLoS Biol , vol.6 , Issue.1
    • Stewart, J.B.1
  • 89
    • 34447636774 scopus 로고    scopus 로고
    • Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy
    • Malfatti E, et al. Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. Brain. 2007;130(pt 7):1894-1904.
    • (2007) Brain. , vol.130 , Issue.PART 7 , pp. 1894-1904
    • Malfatti, E.1
  • 90
    • 84870623870 scopus 로고    scopus 로고
    • A mouse mtDNA mutant model of Leber's Hereditary Optic Neuropathy
    • Lin CS, et al. A mouse mtDNA mutant model of Leber's Hereditary Optic Neuropathy. Proc Natl Acad Sci U S A. 2012;109(49):20065-20070.
    • (2012) Proc Natl Acad Sci U S A. , vol.109 , Issue.49 , pp. 20065-20070
    • Lin, C.S.1
  • 91
    • 0033772263 scopus 로고    scopus 로고
    • Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes
    • Inoue K, et al. Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes. Nat Genet. 2000;26(2):176-181.
    • (2000) Nat Genet. , vol.26 , Issue.2 , pp. 176-181
    • Inoue, K.1
  • 92
    • 33750059763 scopus 로고    scopus 로고
    • Mitochondria-related male infertility
    • Nakada K, et al. Mitochondria-related male infertility. Proc Natl Acad Sci U S A. 2006;103(41):15148-15153.
    • (2006) Proc Natl Acad Sci U S A. , vol.103 , Issue.41 , pp. 15148-15153
    • Nakada, K.1
  • 93
    • 84867522393 scopus 로고    scopus 로고
    • Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition
    • Sharpley MS, et al. Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition. Cell. 2012;151(2):333-343.
    • (2012) Cell. , vol.151 , Issue.2 , pp. 333-343
    • Sharpley, M.S.1
  • 94
    • 0030951244 scopus 로고    scopus 로고
    • Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
    • Jenuth JP, Peterson AC, Shoubridge EA. Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat Genet. 1997;16(1):93-95.
    • (1997) Nat Genet. , vol.16 , Issue.1 , pp. 93-95
    • Jenuth, J.P.1    Peterson, A.C.2    Shoubridge, E.A.3
  • 95
    • 84866665390 scopus 로고    scopus 로고
    • Mitochondria and cancer
    • Wallace DC. Mitochondria and cancer. Nat Rev Cancer. 2012;12(10):685-698.
    • (2012) Nat Rev Cancer. , vol.12 , Issue.10 , pp. 685-698
    • Wallace, D.C.1
  • 97
    • 34547412109 scopus 로고    scopus 로고
    • Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis
    • Hudjashov G, et al. Revealing the prehistoric settlement of Australia by Y chromosome and mtDNA analysis. Proc Natl Acad Sci U S A. 2007; 104(21):8726-8730.
    • (2007) Proc Natl Acad Sci U S A. , vol.104 , Issue.21 , pp. 8726-8730
    • Hudjashov, G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.