-
1
-
-
0019423856
-
Sequence and organization of human mitochondrial genome
-
Anderson S., Bankier A.T., Barrell B.G., et al. Sequence and organization of human mitochondrial genome. Nature. 290:1981;457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
-
2
-
-
0016327931
-
The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. Quantitative isolation of mitochondrial deoxyribonucleic acid
-
Bogenhagen D., Clayton D.A. The number of mitochondrial deoxyribonucleic acid genomes in mouse L and human HeLa cells. Quantitative isolation of mitochondrial deoxyribonucleic acid. J Biol Chem. 249:1974;7991-7995.
-
(1974)
J Biol Chem
, vol.249
, pp. 7991-7995
-
-
Bogenhagen, D.1
Clayton, D.A.2
-
3
-
-
0017758576
-
Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle
-
Bogenhagen D., Clayton D.A. Mouse L cell mitochondrial DNA molecules are selected randomly for replication throughout the cell cycle. Cell. 11:1977;719-727.
-
(1977)
Cell
, vol.11
, pp. 719-727
-
-
Bogenhagen, D.1
Clayton, D.A.2
-
4
-
-
0030920779
-
Mitochondrial DNA maintenance in vertebrates
-
Shadel G.S., Clayton D.A. Mitochondrial DNA maintenance in vertebrates. Annu Rev Biochem. 66:1997;409-435.
-
(1997)
Annu Rev Biochem
, vol.66
, pp. 409-435
-
-
Shadel, G.S.1
Clayton, D.A.2
-
5
-
-
0030587492
-
Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase γ
-
Ropp P.A., Copeland W.C. Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase γ Genomics. 36:1996;449-458.
-
(1996)
Genomics
, vol.36
, pp. 449-458
-
-
Ropp, P.A.1
Copeland, W.C.2
-
6
-
-
0032488920
-
Differential expression of mitochondrial replication factors in mammalian tissues
-
Schultz R.A., Swoaps S.J., McDaniel L.D., et al. Differential expression of mitochondrial replication factors in mammalian tissues. J Biol Chem. 273:1998;3447-3451.
-
(1998)
J Biol Chem
, vol.273
, pp. 3447-3451
-
-
Schultz, R.A.1
Swoaps, S.J.2
McDaniel, L.D.3
-
8
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace D.C. Diseases of the mitochondrial DNA. Annu Rev Biochem. 61:1992;1175-1212.
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
10
-
-
0029962873
-
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A)
-
Santorelli F.M., Mak S.C., El-Schahawi M., et al. Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A). Am J Hum Genet. 58:1996;933-939.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 933-939
-
-
Santorelli, F.M.1
Mak, S.C.2
El-Schahawi, M.3
-
11
-
-
0028574053
-
Mitochondrial DNA sequence variation in human evolution and disease
-
Wallace D.C. Mitochondrial DNA sequence variation in human evolution and disease. Proc Natl Acad Sci U S A. 91:1994;8739-8746.
-
(1994)
Proc Natl Acad Sci U S a
, vol.91
, pp. 8739-8746
-
-
Wallace, D.C.1
-
12
-
-
0023883150
-
Deletions of mtDNA in patients with mitochondrial myopathies
-
Holt I.J., Harding A.E., Morgan-Hughes J.A. Deletions of mtDNA in patients with mitochondrial myopathies. Nature. 331:1988;717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
13
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., DiMauro S., Zeviani M., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med. 320:1989;1293-1299.
-
(1989)
N Engl J Med
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
Dimauro, S.2
Zeviani, M.3
-
14
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani M., Moraes C.T., DiMauro S., et al. Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology. 38:1988;1339-1346.
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
Dimauro, S.3
-
15
-
-
0025133424
-
Pearson's marrow-pancreas syndrome
-
Rotig A., Cormier V., Blanche S., et al. Pearson's marrow-pancreas syndrome. J Clin Invest. 86:1990;1601-1608.
-
(1990)
J Clin Invest
, vol.86
, pp. 1601-1608
-
-
Rotig, A.1
Cormier, V.2
Blanche, S.3
-
16
-
-
0030010205
-
Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy
-
Marin-Garcia J., Goldenthal M.J., Ananthakrishnan R., et al. Specific mitochondrial DNA deletions in idiopathic dilated cardiomyopathy. Cardiovasc Res. 31:1996;306-314.
-
(1996)
Cardiovasc Res
, vol.31
, pp. 306-314
-
-
Marin-Garcia, J.1
Goldenthal, M.J.2
Ananthakrishnan, R.3
-
17
-
-
0029072026
-
Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy
-
Li Y.Y., Hengstenberg C., Maisch B. Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy. Biochem Biophys Res Commun. 210:1995;211-218.
-
(1995)
Biochem Biophys Res Commun
, vol.210
, pp. 211-218
-
-
Li, Y.Y.1
Hengstenberg, C.2
Maisch, B.3
-
18
-
-
0029996721
-
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy
-
Bohlega S., Tanji K., Santorelli F.M., Hirano M., al-Jishi A., DiMauro S. Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. Neurology. 46:1996;1329-1334.
-
(1996)
Neurology
, vol.46
, pp. 1329-1334
-
-
Bohlega, S.1
Tanji, K.2
Santorelli, F.M.3
Hirano, M.4
Al-Jishi, A.5
Dimauro, S.6
-
19
-
-
0025873627
-
Clinical syndromes associated with ragged red fibers
-
Rowland L.P., Blake D., Hirano M., et al. Clinical syndromes associated with ragged red fibers. Rev Neurol. 147:1991;467-473.
-
(1991)
Rev Neurol
, vol.147
, pp. 467-473
-
-
Rowland, L.P.1
Blake, D.2
Hirano, M.3
-
20
-
-
0024596946
-
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
-
Schon E.A., Rizzuto R., Moraes C.T., Nakase H., Zeviani M., DiMauro S. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science. 244:1989;346-349.
-
(1989)
Science
, vol.244
, pp. 346-349
-
-
Schon, E.A.1
Rizzuto, R.2
Moraes, C.T.3
Nakase, H.4
Zeviani, M.5
Dimauro, S.6
-
22
-
-
0024601360
-
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D loop region
-
Zeviani M., Servidei S., Gellera C., Bertini E., DiMauro S., DiDonato S. An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D loop region. Nature. 339:1989;309-311.
-
(1989)
Nature
, vol.339
, pp. 309-311
-
-
Zeviani, M.1
Servidei, S.2
Gellera, C.3
Bertini, E.4
Dimauro, S.5
Didonato, S.6
-
23
-
-
0026637067
-
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia
-
Suomalainen A., Majander A., Haltia M., et al. Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest. 90:1992;61-66.
-
(1992)
J Clin Invest
, vol.90
, pp. 61-66
-
-
Suomalainen, A.1
Majander, A.2
Haltia, M.3
-
24
-
-
0028930787
-
Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?
-
Poulton J., Sewry C., Potter C.G., et al. Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome? J Inherit Metab Dis. 18:1995;4-20.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 4-20
-
-
Poulton, J.1
Sewry, C.2
Potter, C.G.3
-
25
-
-
0032802683
-
Skeletal muscle mitochondrial defects in nonspecific neurological disorders
-
Marin-Garcia J., Ananthakrishnan R., Goldenthal M.J., Filiano J.J., Sarnat H.B. Skeletal muscle mitochondrial defects in nonspecific neurological disorders. Pediatr Neurol. 21:1999;538-542.
-
(1999)
Pediatr Neurol
, vol.21
, pp. 538-542
-
-
Marin-Garcia, J.1
Ananthakrishnan, R.2
Goldenthal, M.J.3
Filiano, J.J.4
Sarnat, H.B.5
-
26
-
-
0026541124
-
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA
-
Tritschler H.J., Andreetta F., Moraes C.T., et al. Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA. Neurology. 42:1992;209-217.
-
(1992)
Neurology
, vol.42
, pp. 209-217
-
-
Tritschler, H.J.1
Andreetta, F.2
Moraes, C.T.3
-
27
-
-
0026015896
-
MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes C.T., Shanske S., Tritschler H.J., et al. mtDNA depletion with variable tissue expression A novel genetic abnormality in mitochondrial diseases . Am J Hum Genet. 48:1991;492-501.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
-
28
-
-
0029869935
-
Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease
-
Bakker H.D., Scholte H.R., Dingemans K.P., Spelbrink J.N., Wijburg F.A., Van den Bogert C. Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease. J Pediatr. 128:1996;683-687.
-
(1996)
J Pediatr
, vol.128
, pp. 683-687
-
-
Bakker, H.D.1
Scholte, H.R.2
Dingemans, K.P.3
Spelbrink, J.N.4
Wijburg, F.A.5
Van Den Bogert, C.6
-
29
-
-
0030821822
-
Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy
-
Marin-Garcia J., Ananthakrishnan R., Goldenthal M.J., Filiano J.J., Perez-Atayde A. Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy. J Inherit Metab Dis. 20:1997;674-680.
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 674-680
-
-
Marin-Garcia, J.1
Ananthakrishnan, R.2
Goldenthal, M.J.3
Filiano, J.J.4
Perez-Atayde, A.5
-
30
-
-
0027403570
-
Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: Duplications may be a transient intermediate form
-
Poulton J., Deadman M.E., Bindoff L., Morten K., Land J., Brown G. Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions Duplications may be a transient intermediate form . Hum Mol Genet. 2:1993;23-30.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 23-30
-
-
Poulton, J.1
Deadman, M.E.2
Bindoff, L.3
Morten, K.4
Land, J.5
Brown, G.6
-
31
-
-
0032504656
-
Mitochondria in neuromuscular disorders
-
DiMauro S., Bonilla E., Davidson M., Hirano M., Schon E.A. Mitochondria in neuromuscular disorders. Biochim Biophys Acta. 1366:1998;199-210.
-
(1998)
Biochim Biophys Acta
, vol.1366
, pp. 199-210
-
-
Dimauro, S.1
Bonilla, E.2
Davidson, M.3
Hirano, M.4
Schon, E.A.5
-
32
-
-
0030854939
-
Association of myopathy with large-scale mitochondrial DNA duplications and deletions: Which is pathogenic?
-
Manfredi G., Vu T., Bonilla E., et al. Association of myopathy with large-scale mitochondrial DNA duplications and deletions Which is pathogenic? Ann Neurol. 42:1997;180-188.
-
(1997)
Ann Neurol
, vol.42
, pp. 180-188
-
-
Manfredi, G.1
Vu, T.2
Bonilla, E.3
-
33
-
-
0033525577
-
Can mitochondrial clocks keep time?
-
Strauss E. Can mitochondrial clocks keep time? Science. 283:1999;1435-1438.
-
(1999)
Science
, vol.283
, pp. 1435-1438
-
-
Strauss, E.1
-
34
-
-
0025968499
-
In vitro genetic transfer of protein synthesis defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
-
Chomyn A., Meola G., Bresolin N., Lai S.T., Scarlato G., Attardi G. In vitro genetic transfer of protein synthesis defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol Cell Biol. 11:1991;2236-2244.
-
(1991)
Mol Cell Biol
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
Lai, S.T.4
Scarlato, G.5
Attardi, G.6
-
35
-
-
0029027557
-
Searching for genes affecting the structural integrity of the mitochondrial genome
-
Zeviani M., Amati P., Comi G., Fratta G., Mariotti C., Tiranti V. Searching for genes affecting the structural integrity of the mitochondrial genome. Biochem Biophys Acta. 1271:1995;153-158.
-
(1995)
Biochem Biophys Acta
, vol.1271
, pp. 153-158
-
-
Zeviani, M.1
Amati, P.2
Comi, G.3
Fratta, G.4
Mariotti, C.5
Tiranti, V.6
-
36
-
-
0024317560
-
Spontaneous Kearns-Sayre chronic ophthalmoplegia plus syndrome associated with mitochondrial DNA deletion: A slip replication model and metabolic therapy
-
Shoffner J.M., Lott M.T., Viljavec A.S., Soueidan S.A., Costigan D.A., Wallace D.C. Spontaneous Kearns-Sayre chronic ophthalmoplegia plus syndrome associated with mitochondrial DNA deletion A slip replication model and metabolic therapy . Proc Natl Acad Sci U S A. 86:1989;7952-7956.
-
(1989)
Proc Natl Acad Sci U S a
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lott, M.T.2
Viljavec, A.S.3
Soueidan, S.A.4
Costigan, D.A.5
Wallace, D.C.6
-
37
-
-
0020586274
-
Excision sequences in the mitochondrial genome of yeast
-
De Zamaroczy M., Faugeron-Fonty G., Bernardi G. Excision sequences in the mitochondrial genome of yeast. Gene. 21:1983;193-202.
-
(1983)
Gene
, vol.21
, pp. 193-202
-
-
De Zamaroczy, M.1
Faugeron-Fonty, G.2
Bernardi, G.3
-
38
-
-
0026028226
-
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine induced myopathy
-
Arnaudo E., Dalakas M.C., Shanske S., Moraes C.T., DiMauro S., Schon E.A. Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine induced myopathy. Lancet. 337:1991;508-510.
-
(1991)
Lancet
, vol.337
, pp. 508-510
-
-
Arnaudo, E.1
Dalakas, M.C.2
Shanske, S.3
Moraes, C.T.4
Dimauro, S.5
Schon, E.A.6
-
39
-
-
0028990381
-
Mitochondrial toxicity of antiviral drugs
-
Lewis W., Dalakas M. Mitochondrial toxicity of antiviral drugs. Nat Med. 1:1995;417-422.
-
(1995)
Nat Med
, vol.1
, pp. 417-422
-
-
Lewis, W.1
Dalakas, M.2
-
40
-
-
0026326871
-
Partial cytochrome c oxidase deficiency and cytoplasmic bodies in patients with zidovudine myopathy
-
Chariot P., Gherardi R. Partial cytochrome c oxidase deficiency and cytoplasmic bodies in patients with zidovudine myopathy. Neuromuscul Disord. 1:1991;357-363.
-
(1991)
Neuromuscul Disord
, vol.1
, pp. 357-363
-
-
Chariot, P.1
Gherardi, R.2
-
41
-
-
0028029271
-
Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion
-
Poulton J., Morten K., Freeman-Emmerson C., et al. Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion. Hum Mol Genet. 3:1994;1763-1769.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1763-1769
-
-
Poulton, J.1
Morten, K.2
Freeman-Emmerson, C.3
-
42
-
-
0023518420
-
Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos
-
Piko L., Taylor K.D. Amounts of mitochondrial DNA and abundance of some mitochondrial gene transcripts in early mouse embryos. Dev Biol. 123:1987;364-374.
-
(1987)
Dev Biol
, vol.123
, pp. 364-374
-
-
Piko, L.1
Taylor, K.D.2
-
43
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V., Montermini L., Molto M.D., et al. Friedreich's ataxia Autosomal recessive disease caused by an intronic GAA triplet repeat expansion . Science. 271:1996;1423-1427.
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
-
44
-
-
0032568610
-
Localization of the Wilson's disease protein product to mitochondria
-
Lutsenko S., Cooper M.J. Localization of the Wilson's disease protein product to mitochondria. Proc Natl Acad Sci U S A. 95:1998;6004-6009.
-
(1998)
Proc Natl Acad Sci U S a
, vol.95
, pp. 6004-6009
-
-
Lutsenko, S.1
Cooper, M.J.2
-
45
-
-
0029914301
-
Deficiency of the voltage-dependent anion channel: A novel cause of mitochondriopathy
-
Huizing M., Ruitenbeek W., Thinnes F.P., et al. Deficiency of the voltage-dependent anion channel A novel cause of mitochondriopathy . Pediatr Res. 39:1996;760-765.
-
(1996)
Pediatr Res
, vol.39
, pp. 760-765
-
-
Huizing, M.1
Ruitenbeek, W.2
Thinnes, F.P.3
-
46
-
-
0031011211
-
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in heart/muscle isoform of the adenine nucleotide translocator
-
Graham B.H., Waymire K.G., Cottrell B., Trounce I.A., MacGregor G.R., Wallace D.C. A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in heart/muscle isoform of the adenine nucleotide translocator. Nat Genet. 16:1997;226-234.
-
(1997)
Nat Genet
, vol.16
, pp. 226-234
-
-
Graham, B.H.1
Waymire, K.G.2
Cottrell, B.3
Trounce, I.A.4
MacGregor, G.R.5
Wallace, D.C.6
-
47
-
-
0029838063
-
Neurodegeneration, myocardial injury and perinatal death in mitochondrial superoxide dismutase-deficient mice
-
Lebovitz R.M., Zhang H., Vogel H., et al. Neurodegeneration, myocardial injury and perinatal death in mitochondrial superoxide dismutase-deficient mice. Proc Natl Acad Sci U S A. 93:1996;9782-9788.
-
(1996)
Proc Natl Acad Sci U S a
, vol.93
, pp. 9782-9788
-
-
Lebovitz, R.M.1
Zhang, H.2
Vogel, H.3
-
48
-
-
0032924872
-
Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression
-
Wang J, Wilhelmsson H, Graff C, et al. Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression. Nat Genet 1999;21:133-7.
-
(1999)
Nat Genet
, vol.21
, pp. 133-137
-
-
Wang, J.1
Wilhelmsson, H.2
Graff, C.3
-
49
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace D.C. Mitochondrial diseases in man and mouse. Science. 283:1999;1482-1488.
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
50
-
-
0030835615
-
Inborn errors of the Krebs cycle: A group of unusual mitochondrial diseases in human
-
Rustin P., Bourgeron T., Parfait B., Chretien D., Munnich A., Rotig A. Inborn errors of the Krebs cycle A group of unusual mitochondrial diseases in human . Biochim Biophys Acta. 1361:1997;185-197.
-
(1997)
Biochim Biophys Acta
, vol.1361
, pp. 185-197
-
-
Rustin, P.1
Bourgeron, T.2
Parfait, B.3
Chretien, D.4
Munnich, A.5
Rotig, A.6
|