-
1
-
-
0033619147
-
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA
-
Andreu A.L., et al. Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA. N. Engl. J. Med. 1999, 341:1037-1044.
-
(1999)
N. Engl. J. Med.
, vol.341
, pp. 1037-1044
-
-
Andreu, A.L.1
-
2
-
-
0031008228
-
The ATP synthase-a splendid molecular machine
-
Boyer P.D. The ATP synthase-a splendid molecular machine. Annu. Rev. Biochem. 1997, 66:717-749.
-
(1997)
Annu. Rev. Biochem.
, vol.66
, pp. 717-749
-
-
Boyer, P.D.1
-
3
-
-
77949565639
-
Targeting mitochondrial dysfunction in neurodegenerative disease: Part I
-
Burchell V.S., et al. Targeting mitochondrial dysfunction in neurodegenerative disease: Part I. Expert Opin. Ther. Targets 2010, 14:369-385.
-
(2010)
Expert Opin. Ther. Targets
, vol.14
, pp. 369-385
-
-
Burchell, V.S.1
-
4
-
-
77951098230
-
Targeting mitochondrial dysfunction in neurodegenerative disease: Part II
-
Burchell V.S., et al. Targeting mitochondrial dysfunction in neurodegenerative disease: Part II. Expert Opin. Ther. Targets 2010, 14:497-511.
-
(2010)
Expert Opin. Ther. Targets
, vol.14
, pp. 497-511
-
-
Burchell, V.S.1
-
5
-
-
0031577531
-
Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene
-
Campos Y., et al. Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene. Biochem. Biophys. Res. Commun. 1997, 238:323-325.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.238
, pp. 323-325
-
-
Campos, Y.1
-
6
-
-
0030820191
-
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA
-
Campos Y., et al. Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 1997, 49:595-597.
-
(1997)
Neurology
, vol.49
, pp. 595-597
-
-
Campos, Y.1
-
7
-
-
0035853011
-
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome
-
Carrozzo R., et al. The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome. Neurology 2001, 56:687-690.
-
(2001)
Neurology
, vol.56
, pp. 687-690
-
-
Carrozzo, R.1
-
8
-
-
34147111890
-
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9, 185 of mitochondrial DNA
-
Castagna A.E., et al. Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9, 185 of mitochondrial DNA. Am. J. Med. Genet. A 2007, 143A:808-816.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 808-816
-
-
Castagna, A.E.1
-
9
-
-
32544439499
-
Mitochondrial encephalomyopathy in Drosophila
-
Celotto A.M., et al. Mitochondrial encephalomyopathy in Drosophila. J. Neurosci. 2006, 26:810-820.
-
(2006)
J. Neurosci.
, vol.26
, pp. 810-820
-
-
Celotto, A.M.1
-
10
-
-
0028810803
-
Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene
-
De Meirleir L., et al. Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene. Pediatr. Neurol. 1995, 13:242-246.
-
(1995)
Pediatr. Neurol.
, vol.13
, pp. 242-246
-
-
De Meirleir, L.1
-
11
-
-
0027166021
-
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
-
de Vries D.D., et al. A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome. Ann. Neurol. 1993, 34:410-412.
-
(1993)
Ann. Neurol.
, vol.34
, pp. 410-412
-
-
de Vries, D.D.1
-
12
-
-
34548329866
-
Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation
-
Debray F.G., et al. Long-term outcome of Leigh syndrome caused by the NARP-T8993C mtDNA mutation. Am. J. Med. Genet. A 2007, 143A:2046-2051.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 2046-2051
-
-
Debray, F.G.1
-
13
-
-
0033917385
-
Mutations in mtDNA: are we scraping the bottom of the barrel?
-
DiMauro S., Andreu A.L. Mutations in mtDNA: are we scraping the bottom of the barrel?. Brain Pathol. 2000, 10:431-441.
-
(2000)
Brain Pathol.
, vol.10
, pp. 431-441
-
-
DiMauro, S.1
Andreu, A.L.2
-
14
-
-
0037972522
-
Mitochondrial respiratory-chain diseases
-
DiMauro S., Schon E.A. Mitochondrial respiratory-chain diseases. N Engl J. Med. 2003, 348:2656-2668.
-
(2003)
N Engl J. Med.
, vol.348
, pp. 2656-2668
-
-
DiMauro, S.1
Schon, E.A.2
-
15
-
-
77649085555
-
Gene expression in a Drosophila model of mitochondrial disease
-
Fernandez-Ayala D.J., et al. Gene expression in a Drosophila model of mitochondrial disease. PLoS One 2010, 5:e8549.
-
(2010)
PLoS One
, vol.5
-
-
Fernandez-Ayala, D.J.1
-
16
-
-
40949103992
-
Drosophila melanogaster as a model system to study mitochondrial biology
-
Fernandez-Moreno M.A., et al. Drosophila melanogaster as a model system to study mitochondrial biology. Meth. Mol. Biol. 2007, 372:33-49.
-
(2007)
Meth. Mol. Biol.
, vol.372
, pp. 33-49
-
-
Fernandez-Moreno, M.A.1
-
17
-
-
1642341366
-
Mitochondriopathies
-
Finsterer J. Mitochondriopathies. Eur. J. Neurol. 2004, 11:163-186.
-
(2004)
Eur. J. Neurol.
, vol.11
, pp. 163-186
-
-
Finsterer, J.1
-
18
-
-
0142025366
-
Review: Mitochondrial medicine-cardiomyopathy caused by defective oxidative phosphorylation
-
Fosslien E. Review: Mitochondrial medicine-cardiomyopathy caused by defective oxidative phosphorylation. Ann. Clin. Lab. Sci. 2003, 33:371-395.
-
(2003)
Ann. Clin. Lab. Sci.
, vol.33
, pp. 371-395
-
-
Fosslien, E.1
-
19
-
-
0025666322
-
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto Y., et al. A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990, 348:651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
-
20
-
-
44349182647
-
Yeast cells depleted in Atp14p fail to assemble Atp6p within the ATP synthase and exhibit altered mitochondrial cristae morphology
-
Goyon V., et al. Yeast cells depleted in Atp14p fail to assemble Atp6p within the ATP synthase and exhibit altered mitochondrial cristae morphology. J. Biol. Chem. 2008, 283:9749-9758.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 9749-9758
-
-
Goyon, V.1
-
21
-
-
77951243014
-
Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease
-
Graham B.H., et al. Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and disease. J. Biol. Chem. 2010, 285:11143-11153.
-
(2010)
J. Biol. Chem.
, vol.285
, pp. 11143-11153
-
-
Graham, B.H.1
-
22
-
-
0028927272
-
Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus
-
Hao H., et al. Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus. Am. J. Hum. Genet. 1995, 56:1017-1025.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1017-1025
-
-
Hao, H.1
-
23
-
-
32544443802
-
-
Butterworth Heinemann, Boston, A.H.V. Schapira, S. DiMauro (Eds.)
-
Hart P., et al. Mitochondrial disorders in neurology 2 2002, Butterworth Heinemann, Boston. A.H.V. Schapira, S. DiMauro (Eds.).
-
(2002)
Mitochondrial disorders in neurology 2
-
-
Hart, P.1
-
24
-
-
0024798264
-
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
-
Holt I.J., et al. Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann. Neurol. 1989, 26:699-708.
-
(1989)
Ann. Neurol.
, vol.26
, pp. 699-708
-
-
Holt, I.J.1
-
25
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt I.J., et al. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet. 1990, 46:428-433.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
-
26
-
-
0025944560
-
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees
-
Howell N., et al. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am. J. Hum. Genet. 1991, 49:939-950.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 939-950
-
-
Howell, N.1
-
27
-
-
9644266769
-
Mitochondrial disease in flies
-
Jacobs H.T., et al. Mitochondrial disease in flies. Biochim. Biophys. Acta 2004, 1659:190-196.
-
(2004)
Biochim. Biophys. Acta
, vol.1659
, pp. 190-196
-
-
Jacobs, H.T.1
-
28
-
-
70349669093
-
Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+antiporter
-
Jiang D., et al. Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+antiporter. Science 2009, 326:144-147.
-
(2009)
Science
, vol.326
, pp. 144-147
-
-
Jiang, D.1
-
29
-
-
0026337654
-
Cytochrome b mutations in Leber hereditary optic neuropathy
-
Johns D.R., Neufeld M.J. Cytochrome b mutations in Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 1991, 181:1358-1364.
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.181
, pp. 1358-1364
-
-
Johns, D.R.1
Neufeld, M.J.2
-
30
-
-
0026757115
-
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
-
Johns D.R., et al. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy. Biochem. Biophys. Res. Commun. 1992, 187:1551-1557.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.187
, pp. 1551-1557
-
-
Johns, D.R.1
-
31
-
-
0028258021
-
Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients
-
Katagiri H., et al. Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNA(Leu(UUR)) gene mutation in Japanese patients. Diabetologia 1994, 37:504-510.
-
(1994)
Diabetologia
, vol.37
, pp. 504-510
-
-
Katagiri, H.1
-
32
-
-
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, 289:782-785.
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
-
34
-
-
4744344532
-
Mutations of the mitochondrial ND1 gene as a cause of MELAS
-
Kirby D.M., et al. Mutations of the mitochondrial ND1 gene as a cause of MELAS. J. Med. Genet. 2004, 41:784-789.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 784-789
-
-
Kirby, D.M.1
-
35
-
-
0028908634
-
A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy
-
Lamminen T., et al. A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 1995, 56:1238-1240.
-
(1995)
Am. J. Hum. Genet.
, vol.56
, pp. 1238-1240
-
-
Lamminen, T.1
-
36
-
-
0034700807
-
Mitochondrial respiratory chain disorders I: mitochondrial DNA defects
-
Leonard J.V., Schapira A.H. Mitochondrial respiratory chain disorders I: mitochondrial DNA defects. Lancet 2000, 355:299-304.
-
(2000)
Lancet
, vol.355
, pp. 299-304
-
-
Leonard, J.V.1
Schapira, A.H.2
-
37
-
-
0034728096
-
Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects
-
Leonard J.V., Schapira A.H. Mitochondrial respiratory chain disorders II: neurodegenerative disorders and nuclear gene defects. Lancet 2000, 355:389-394.
-
(2000)
Lancet
, vol.355
, pp. 389-394
-
-
Leonard, J.V.1
Schapira, A.H.2
-
38
-
-
0026641790
-
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I
-
Lertrit P., et al. A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. Am. J. Hum. Genet. 1992, 51:457-468.
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 457-468
-
-
Lertrit, P.1
-
39
-
-
58549092271
-
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein
-
Lopez-Gallardo E., et al. NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein. J. Med. Genet. 2009, 46:64-67.
-
(2009)
J. Med. Genet.
, vol.46
, pp. 64-67
-
-
Lopez-Gallardo, E.1
-
40
-
-
0029161867
-
Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness
-
Manouvrier S., et al. Point mutation of the mitochondrial tRNA(Leu) gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness. J. Med. Genet. 1995, 32:654-656.
-
(1995)
J. Med. Genet.
, vol.32
, pp. 654-656
-
-
Manouvrier, S.1
-
41
-
-
0034749276
-
Mitochondrial pathology in cardiac failure
-
Marin-Garcia J., et al. Mitochondrial pathology in cardiac failure. Cardiovasc. Res. 2001, 49:17-26.
-
(2001)
Cardiovasc. Res.
, vol.49
, pp. 17-26
-
-
Marin-Garcia, J.1
-
42
-
-
41149170634
-
Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion
-
Martinez-Azorin F., et al. Over-expression of the catalytic core of mitochondrial DNA (mtDNA) polymerase in the nervous system of Drosophila melanogaster reduces median life span by inducing mtDNA depletion. J. Neurochem. 2008, 105:165-176.
-
(2008)
J. Neurochem.
, vol.105
, pp. 165-176
-
-
Martinez-Azorin, F.1
-
43
-
-
50649095537
-
Reactive oxygen species act remotely to cause synapse loss in a Drosophila model of developmental mitochondrial encephalopathy
-
Mast J.D., et al. Reactive oxygen species act remotely to cause synapse loss in a Drosophila model of developmental mitochondrial encephalopathy. Development 2008, 135:2669-2679.
-
(2008)
Development
, vol.135
, pp. 2669-2679
-
-
Mast, J.D.1
-
44
-
-
9144222664
-
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency
-
McFarland R., et al. De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency. Ann. Neurol. 2004, 55:58-64.
-
(2004)
Ann. Neurol.
, vol.55
, pp. 58-64
-
-
McFarland, R.1
-
45
-
-
0028070162
-
Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene
-
Merante F., et al. Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene. Am. J. Hum. Genet. 1994, 55:437-446.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 437-446
-
-
Merante, F.1
-
46
-
-
0025044656
-
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
-
Mita S., et al. Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 1990, 18:561-567.
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 561-567
-
-
Mita, S.1
-
47
-
-
0014202070
-
Chemiosmotic hypothesis of oxidative phosphorylation
-
Mitchell P., Moyle J. Chemiosmotic hypothesis of oxidative phosphorylation. Nature 1967, 213:137-139.
-
(1967)
Nature
, vol.213
, pp. 137-139
-
-
Mitchell, P.1
Moyle, J.2
-
48
-
-
0024328462
-
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome
-
Moraes C.T., et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N. Engl. J. Med. 1989, 320:1293-1299.
-
(1989)
N. Engl. J. Med.
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
-
49
-
-
27144482439
-
Two new mutations in the MTATP6 gene associated with Leigh syndrome
-
Moslemi A.R., et al. Two new mutations in the MTATP6 gene associated with Leigh syndrome. Neuropediatrics 2005, 36:314-318.
-
(2005)
Neuropediatrics
, vol.36
, pp. 314-318
-
-
Moslemi, A.R.1
-
50
-
-
0042026576
-
A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome
-
Nishigaki Y., et al. A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome. Neuromuscul. Disord. 2003, 13:334-340.
-
(2003)
Neuromuscul. Disord.
, vol.13
, pp. 334-340
-
-
Nishigaki, Y.1
-
51
-
-
77953360335
-
Animal models of mitochondrial DNA transactions in disease and ageing
-
Oliveira M.T., et al. Animal models of mitochondrial DNA transactions in disease and ageing. Exp. Gerontol. 2010, 10.1016/j.exger.2010.01.019.
-
(2010)
Exp. Gerontol.
-
-
Oliveira, M.T.1
-
52
-
-
0028209909
-
Mitochondrial cardiomyopathy
-
105-18
-
Ozawa T. Mitochondrial cardiomyopathy. Herz 1994, 19(105-18):125.
-
(1994)
Herz
, vol.19
, pp. 125
-
-
Ozawa, T.1
-
53
-
-
70349783430
-
Mitochondrial dysfunction and Parkinson's disease genes: insights from Drosophila
-
Park J., et al. Mitochondrial dysfunction and Parkinson's disease genes: insights from Drosophila. Dis. Model Mech. 2009, 2:336-340.
-
(2009)
Dis. Model Mech.
, vol.2
, pp. 336-340
-
-
Park, J.1
-
54
-
-
0028355321
-
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
-
Pastores G.M., et al. Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G). Am. J. Med. Genet. 1994, 50:265-271.
-
(1994)
Am. J. Med. Genet.
, vol.50
, pp. 265-271
-
-
Pastores, G.M.1
-
55
-
-
0036470775
-
The ATP synthase is involved in generating mitochondrial cristae morphology
-
Paumard P., et al. The ATP synthase is involved in generating mitochondrial cristae morphology. EMBO J. 2002, 21:221-230.
-
(2002)
EMBO J.
, vol.21
, pp. 221-230
-
-
Paumard, P.1
-
56
-
-
57749093494
-
Restoration of electron transport without proton pumping in mammalian mitochondria
-
Perales-Clemente E., et al. Restoration of electron transport without proton pumping in mammalian mitochondria. Proc. Natl Acad. Sci. USA 2008, 105:18735-18739.
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 18735-18739
-
-
Perales-Clemente, E.1
-
57
-
-
77955844260
-
The mitochondrial fusion-promoting factor mitofusin is a substrate of the PINK1/parkin pathway
-
Poole A.C., et al. The mitochondrial fusion-promoting factor mitofusin is a substrate of the PINK1/parkin pathway. PLoS One 2010, 5:e10054.
-
(2010)
PLoS One
, vol.5
-
-
Poole, A.C.1
-
58
-
-
0027226069
-
Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
-
Prezant T.R., et al. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness. Nat. Genet. 1993, 4:289-294.
-
(1993)
Nat. Genet.
, vol.4
, pp. 289-294
-
-
Prezant, T.R.1
-
59
-
-
34249722612
-
Yeast cells lacking the mitochondrial gene encoding the ATP synthase subunit 6 exhibit a selective loss of complex IV and unusual mitochondrial morphology
-
Rak M., et al. Yeast cells lacking the mitochondrial gene encoding the ATP synthase subunit 6 exhibit a selective loss of complex IV and unusual mitochondrial morphology. J. Biol. Chem. 2007, 282:10853-10864.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 10853-10864
-
-
Rak, M.1
-
60
-
-
0033581879
-
Structural changes linked to proton translocation by subunit c of the ATP synthase
-
Rastogi V.K., Girvin M.E. Structural changes linked to proton translocation by subunit c of the ATP synthase. Nature 1999, 402:263-268.
-
(1999)
Nature
, vol.402
, pp. 263-268
-
-
Rastogi, V.K.1
Girvin, M.E.2
-
61
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid F.M., et al. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat. 1994, 3:243-247.
-
(1994)
Hum. Mutat.
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
-
62
-
-
0025133424
-
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy
-
Rotig A., et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J. Clin. Invest. 1990, 86:1601-1608.
-
(1990)
J. Clin. Invest.
, vol.86
, pp. 1601-1608
-
-
Rotig, A.1
-
63
-
-
0023663056
-
The tko locus, site of a behavioral mutation in D. melanogaster, codes for a protein homologous to prokaryotic ribosomal protein S12
-
Royden C.S., et al. The tko locus, site of a behavioral mutation in D. melanogaster, codes for a protein homologous to prokaryotic ribosomal protein S12. Cell 1987, 51:165-173.
-
(1987)
Cell
, vol.51
, pp. 165-173
-
-
Royden, C.S.1
-
64
-
-
33748985452
-
Modeling human mitochondrial diseases in flies
-
Sanchez-Martinez A., et al. Modeling human mitochondrial diseases in flies. Biochim. Biophys. Acta 2006, 1757:1190-1198.
-
(2006)
Biochim. Biophys. Acta
, vol.1757
, pp. 1190-1198
-
-
Sanchez-Martinez, A.1
-
65
-
-
0027451284
-
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome
-
Santorelli F.M., et al. The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome. Ann. Neurol. 1993, 34:827-834.
-
(1993)
Ann. Neurol.
, vol.34
, pp. 827-834
-
-
Santorelli, F.M.1
-
66
-
-
0028182912
-
A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome
-
Santorelli F.M., et al. A T→C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome. Neurology 1994, 44:972-974.
-
(1994)
Neurology
, vol.44
, pp. 972-974
-
-
Santorelli, F.M.1
-
67
-
-
0031577593
-
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS
-
Santorelli F.M., et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem. Biophys. Res. Commun. 1997, 238:326-328.
-
(1997)
Biochem. Biophys. Res. Commun.
, vol.238
, pp. 326-328
-
-
Santorelli, F.M.1
-
68
-
-
0030818636
-
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation
-
Santorelli F.M., et al. Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation. Neurology 1997, 49:270-273.
-
(1997)
Neurology
, vol.49
, pp. 270-273
-
-
Santorelli, F.M.1
-
69
-
-
0032992930
-
Mitochondrial disorders
-
Schapira A.H. Mitochondrial disorders. Biochim. Biophys. Acta 1999, 1410:99-102.
-
(1999)
Biochim. Biophys. Acta
, vol.1410
, pp. 99-102
-
-
Schapira, A.H.1
-
70
-
-
33745410626
-
Mitochondrial disease
-
Schapira A.H. Mitochondrial disease. Lancet 2006, 368:70-82.
-
(2006)
Lancet
, vol.368
, pp. 70-82
-
-
Schapira, A.H.1
-
71
-
-
0030788482
-
Mitochondrial DNA mutations and pathogenesis
-
Schon E.A., et al. Mitochondrial DNA mutations and pathogenesis. J. Bioenerg. Biomembr. 1997, 29:131-149.
-
(1997)
J. Bioenerg. Biomembr.
, vol.29
, pp. 131-149
-
-
Schon, E.A.1
-
72
-
-
0024596946
-
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
-
Schon E.A., et al. A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science 1989, 244:346-349.
-
(1989)
Science
, vol.244
, pp. 346-349
-
-
Schon, E.A.1
-
73
-
-
9144224757
-
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study
-
Sciacco M., et al. Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation. A morphological, genetic and spectroscopic study. J. Neurol. 2003, 250:1498-1500.
-
(2003)
J. Neurol.
, vol.250
, pp. 1498-1500
-
-
Sciacco, M.1
-
74
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
-
Shoffner J.M., et al. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell 1990, 61:931-937.
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
-
75
-
-
0034521771
-
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome
-
Shtilbans A., et al. G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome. J. Child. Neurol. 2000, 15:759-761.
-
(2000)
J. Child. Neurol.
, vol.15
, pp. 759-761
-
-
Shtilbans, A.1
-
76
-
-
0028012201
-
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy
-
Silvestri G., et al. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy. Hum. Mutat. 1994, 3:37-43.
-
(1994)
Hum. Mutat.
, vol.3
, pp. 37-43
-
-
Silvestri, G.1
-
77
-
-
0034520923
-
The rotary mechanism of ATP synthase
-
Stock D., et al. The rotary mechanism of ATP synthase. Curr. Opin. Struct. Biol. 2000, 10:672-679.
-
(2000)
Curr. Opin. Struct. Biol.
, vol.10
, pp. 672-679
-
-
Stock, D.1
-
78
-
-
41949123425
-
Dimer ribbons of ATP synthase shape the inner mitochondrial membrane
-
Strauss M., et al. Dimer ribbons of ATP synthase shape the inner mitochondrial membrane. EMBO J. 2008, 27:1154-1160.
-
(2008)
EMBO J.
, vol.27
, pp. 1154-1160
-
-
Strauss, M.1
-
79
-
-
0032976423
-
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
-
Sue C.M., et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 1999, 52:1905-1908.
-
(1999)
Neurology
, vol.52
, pp. 1905-1908
-
-
Sue, C.M.1
-
80
-
-
0026660498
-
Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy
-
Taniike M., et al. Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy. Biochem. Biophys. Res. Commun. 1992, 186:47-53.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.186
, pp. 47-53
-
-
Taniike, M.1
-
81
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T--G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch Y., et al. Heteroplasmic mtDNA mutation (T--G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet. 1992, 50:852-858.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
-
82
-
-
0029122341
-
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis
-
Thyagarajan D., et al. A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis. Ann. Neurol. 1995, 38:468-472.
-
(1995)
Ann. Neurol.
, vol.38
, pp. 468-472
-
-
Thyagarajan, D.1
-
83
-
-
0141684569
-
Gene dosage and selective expression modify phenotype in a Drosophila model of human mitochondrial disease
-
Toivonen J.M., et al. Gene dosage and selective expression modify phenotype in a Drosophila model of human mitochondrial disease. Mitochondrion 2003, 3:83-96.
-
(2003)
Mitochondrion
, vol.3
, pp. 83-96
-
-
Toivonen, J.M.1
-
84
-
-
0034910899
-
High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes
-
Tsao C.Y., et al. High mitochondrial DNA T8993G mutation (<90%) without typical features of Leigh's and NARP syndromes. J. Child Neurol. 2001, 16:533-535.
-
(2001)
J. Child Neurol.
, vol.16
, pp. 533-535
-
-
Tsao, C.Y.1
-
85
-
-
0026906885
-
Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness
-
van den Ouweland J.M., et al. Mutation in mitochondrial tRNA(Leu)(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. 1992, 1:368-371.
-
(1992)
Nat. Genet.
, vol.1
, pp. 368-371
-
-
van den Ouweland, J.M.1
-
86
-
-
1542299777
-
Energy metabolism in heart failure
-
Ventura-Clapier R., et al. Energy metabolism in heart failure. J. Physiol. 2004, 555:1-13.
-
(2004)
J. Physiol.
, vol.555
, pp. 1-13
-
-
Ventura-Clapier, R.1
-
87
-
-
0029069147
-
Determination of the structures of respiratory enzyme complexes from mammalian mitochondria
-
Walker J.E. Determination of the structures of respiratory enzyme complexes from mammalian mitochondria. Biochim. Biophys. Acta 1995, 1271:221-227.
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 221-227
-
-
Walker, J.E.1
-
88
-
-
0024242545
-
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
-
Wallace D.C., et al. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science 1988, 242:1427-1430.
-
(1988)
Science
, vol.242
, pp. 1427-1430
-
-
Wallace, D.C.1
-
89
-
-
77949882290
-
Mitochondrial energetics and therapeutics
-
Wallace D.C., et al. Mitochondrial energetics and therapeutics. Annu. Rev. Pathol. 2010, 5:297-348.
-
(2010)
Annu. Rev. Pathol.
, vol.5
, pp. 297-348
-
-
Wallace, D.C.1
-
90
-
-
50949098032
-
Structural organization of mitochondrial ATP synthase
-
Wittig I., Schagger H. Structural organization of mitochondrial ATP synthase. Biochim. Biophys. Acta 2008, 1777:592-598.
-
(2008)
Biochim. Biophys. Acta
, vol.1777
, pp. 592-598
-
-
Wittig, I.1
Schagger, H.2
-
91
-
-
43849109967
-
Characterization of domain interfaces in monomeric and dimeric ATP synthase
-
Wittig I., et al. Characterization of domain interfaces in monomeric and dimeric ATP synthase. Mol. Cell Proteomics 2008, 7:995-1004.
-
(2008)
Mol. Cell Proteomics
, vol.7
, pp. 995-1004
-
-
Wittig, I.1
-
92
-
-
48249139446
-
Manipulating the metazoan mitochondrial genome with targeted restriction enzymes
-
Xu H., et al. Manipulating the metazoan mitochondrial genome with targeted restriction enzymes. Science 2008, 321:575-577.
-
(2008)
Science
, vol.321
, pp. 575-577
-
-
Xu, H.1
-
93
-
-
33746853114
-
A Drosophila model of Barth syndrome
-
Xu Y., et al. A Drosophila model of Barth syndrome. Proc. Natl Acad. Sci. USA 2006, 103:11584-11588.
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 11584-11588
-
-
Xu, Y.1
-
94
-
-
0025807222
-
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR)
-
Zeviani M., et al. Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet 1991, 338:143-147.
-
(1991)
Lancet
, vol.338
, pp. 143-147
-
-
Zeviani, M.1
-
95
-
-
77950384477
-
Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin
-
Ziviani E., et al. Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin. Proc. Natl Acad. Sci. USA 2010, 107:5018-5023.
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 5018-5023
-
-
Ziviani, E.1
|