-
1
-
-
23844558266
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
62
-
-
77953811190
-
Mitochondria: The calcium connection
-
Contreras L, Drago I, Zampese E, Pozzan T. Mitochondria: The calcium connection. Biochim Biophys Acta. 2010;1797(6-7):607-618.
-
(2010)
Biochim Biophys Acta.
, vol.1797
, Issue.6-7
, pp. 607-618
-
-
Contreras, L.1
Drago, I.2
Zampese, E.3
Pozzan, T.4
-
63
-
-
31144448204
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
82
-
-
0029021719
-
Patterns of maternal transmission in bipolar affective disorder
-
McMahon FJ, Stine OC, Meyers DA, Simpson SG, DePaulo Jr. Patterns of maternal transmission in bipolar affective disorder. Am J Hum Genet. 1995;56(6):1277-1286.
-
(1995)
Am J Hum Genet.
, vol.56
, Issue.6
, pp. 1277-1286
-
-
McMahon, F.J.1
Stine, O.C.2
Meyers, D.A.3
Simpson, S.G.4
DePaulo, J.R.5
-
83
-
-
84861809553
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
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
-
96
-
-
33748651202
-
Mitochondrial genomics identifies major haplogroups in Aboriginal Australians
-
van Holst Pellekaan SM, Ingman M, Roberts-Thomson J, Harding RM. Mitochondrial genomics identifies major haplogroups in Aboriginal Australians. Am J Phys Anthropol. 2006;131(2):282-294.
-
(2006)
Am J Phys Anthropol.
, vol.131
, Issue.2
, pp. 282-294
-
-
Van Holst Pellekaan, S.M.1
Ingman, M.2
Roberts-Thomson, J.3
Harding, R.M.4
-
97
-
-
34547412109
-
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
|