-
1
-
-
0037252462
-
Replication and transcription of mammalian mitochondrial DNA
-
Fernández-Silva P, Enríquez JA, Montoya J. Replication and transcription of mammalian mitochondrial DNA. Exp Physiol 2003; 88: 41-56.
-
(2003)
Exp Physiol
, vol.88
, pp. 41-56
-
-
Fernández-Silva, P.1
Enríquez, J.A.2
Montoya, J.3
-
2
-
-
0032471351
-
The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
-
Loeffen J, Smeitink A, Triepels R, Smeets R, Schuelke M, Sengers R, et al. The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. Am J Hum Genet 1998; 63: 1598-608.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1598-1608
-
-
Loeffen, J.1
Smeitink, A.2
Triepels, R.3
Smeets, R.4
Schuelke, M.5
Sengers, R.6
-
3
-
-
0029159804
-
Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency
-
Bourgerom T, Rustin P, Chretien D, Birch-Machin M, Bourgeois M, Viegas-Pequignot E, et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nat Genet 1995; 11: 144-9.
-
(1995)
Nat Genet
, vol.11
, pp. 144-149
-
-
Bourgerom, T.1
Rustin, P.2
Chretien, D.3
Birch-Machin, M.4
Bourgeois, M.5
Viegas-Pequignot, E.6
-
4
-
-
0032816291
-
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency
-
Tiranti V, Jaksch M, Hofmann S, Galimberti C, Hoertnagel K, Lulli L, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999; 46: 161-6.
-
(1999)
Ann Neurol
, vol.46
, pp. 161-166
-
-
Tiranti, V.1
Jaksch, M.2
Hofmann, S.3
Galimberti, C.4
Hoertnagel, K.5
Lulli, L.6
-
5
-
-
0028116345
-
Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy
-
De Meirleir L, Lissens W, Benelli C, Ponsot G, Desguerre I, Marsac C, et al. Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy. Pediatr Res 1994; 36: 707-12.
-
(1994)
Pediatr Res
, vol.36
, pp. 707-712
-
-
De Meirleir, L.1
Lissens, W.2
Benelli, C.3
Ponsot, G.4
Desguerre, I.5
Marsac, C.6
-
7
-
-
18544384889
-
Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids
-
Baracca A, Solaini G, Sgarbi G, Lenaz G, Baruzzi A, Schapira AH, et al. Severe impairment of complex I-driven adenosine triphosphate synthesis in Leber hereditary optic neuropathy cybrids. Arch Neurol 2005; 62: 730-6.
-
(2005)
Arch Neurol
, vol.62
, pp. 730-736
-
-
Baracca, A.1
Solaini, G.2
Sgarbi, G.3
Lenaz, G.4
Baruzzi, A.5
Schapira, A.H.6
-
8
-
-
0034434583
-
Mitochondrial DNA disorders
-
Naviaux RK. Mitochondrial DNA disorders. Eur J Pediat 2000; 159: S219-26.
-
(2000)
Eur J Pediat
, vol.159
-
-
Naviaux, R.K.1
-
9
-
-
0031034482
-
Clustering of caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
-
Brown MD, Sun FZ, Wallace DC. Clustering of caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet 1997; 60: 381-7.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 381-387
-
-
Brown, M.D.1
Sun, F.Z.2
Wallace, D.C.3
-
10
-
-
0347356538
-
Effects of purifying and adaptive selection on regional variation in human mtDNA
-
Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 2004; 303: 223-6.
-
(2004)
Science
, vol.303
, pp. 223-226
-
-
Ruiz-Pesini, E.1
Mishmar, D.2
Brandon, M.3
Procaccio, V.4
Wallace, D.C.5
-
11
-
-
0347003512
-
Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family
-
Zhao H, Li R, Wang Q, Yan Q, Deng JH, Han D, et al. Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family. Am J Hum Genet 2004; 74: 139-52.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 139-152
-
-
Zhao, H.1
Li, R.2
Wang, Q.3
Yan, Q.4
Deng, J.H.5
Han, D.6
-
12
-
-
0036714966
-
Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy
-
Funalot B, Reynier P, Vighetto A, Ranoux D, Bonnefont JP, Godinot C, et al. Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy. Ann Neurol 2002; 52: 374-7.
-
(2002)
Ann Neurol
, vol.52
, pp. 374-377
-
-
Funalot, B.1
Reynier, P.2
Vighetto, A.3
Ranoux, D.4
Bonnefont, J.P.5
Godinot, C.6
-
13
-
-
0033623822
-
Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
-
Kirby DM, Kahler SG, Freckmann ML, Reddihough D, Thorburn DR. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families. Ann Neurol 2000; 48: 102-4.
-
(2000)
Ann Neurol
, vol.48
, pp. 102-104
-
-
Kirby, D.M.1
Kahler, S.G.2
Freckmann, M.L.3
Reddihough, D.4
Thorburn, D.R.5
-
14
-
-
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, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, 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: 223-31.
-
(2001)
Nat Genet
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
-
15
-
-
10344253295
-
Deoxyribonucleotides and disorders of mitochondrial DNA integrity
-
Saada A. Deoxyribonucleotides and disorders of mitochondrial DNA integrity. DNA Cell Biol 2004; 23: 797-806.
-
(2004)
DNA Cell Biol
, vol.23
, pp. 797-806
-
-
Saada, A.1
-
16
-
-
2642580016
-
Premature ageing in mice expressing defective mitochondrial DNA polymerase
-
Trifunovic A, Wredenberg A, Falkenberg M, Spelbrink JN, Rovio AT, Bruder CE, et al. Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 2004; 429: 417-23.
-
(2004)
Nature
, vol.429
, pp. 417-423
-
-
Trifunovic, A.1
Wredenberg, A.2
Falkenberg, M.3
Spelbrink, J.N.4
Rovio, A.T.5
Bruder, C.E.6
-
17
-
-
2942672611
-
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
-
Wanrooij S, Luoma P, Van Goethem G, Van Broeckhoven C, Suomalainen A, Spelbrink JN. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res 2004; 32: 3053-64.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 3053-3064
-
-
Wanrooij, S.1
Luoma, P.2
Van Goethem, G.3
Van Broeckhoven, C.4
Suomalainen, A.5
Spelbrink, J.N.6
-
18
-
-
0037417898
-
Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes
-
Zhang J, Asín-Cayuela J, Fish J, Michikawa Y, Bonafe M, Olivieri F, et al. Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes. Proc Natl Acad Sci U S A 2003; 100: 1116-21.
-
(2003)
Proc Natl Acad Sci U S A
, vol.100
, pp. 1116-1121
-
-
Zhang, J.1
Asín-Cayuela, J.2
Fish, J.3
Michikawa, Y.4
Bonafe, M.5
Olivieri, F.6
-
19
-
-
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: 10726-31.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 10726-10731
-
-
Coskun, P.E.1
Beal, M.F.2
Wallace, D.C.3
-
20
-
-
0033967568
-
Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects
-
Loeffen JLCM, Smeitink JAM, Trijbels JMF, Janssen AJM, Triepels RH, Sengers RCA, et al. Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects. Hum Mutat 2000; 15: 123-34.
-
(2000)
Hum Mutat
, vol.15
, pp. 123-134
-
-
Loeffen, J.L.C.M.1
Smeitink, J.A.M.2
Trijbels, J.M.F.3
Janssen, A.J.M.4
Triepels, R.H.5
Sengers, R.C.A.6
-
21
-
-
0030925929
-
Mitochondrial acyl carrier protein is involved in lipoic acid synthesis in Saccharomyces cerevisiae
-
Brody S, Oh C, Hoja U, Schweizer E. Mitochondrial acyl carrier protein is involved in lipoic acid synthesis in Saccharomyces cerevisiae. FEBS Lett 1997; 408: 217-20.
-
(1997)
FEBS Lett
, vol.408
, pp. 217-220
-
-
Brody, S.1
Oh, C.2
Hoja, U.3
Schweizer, E.4
-
22
-
-
26444488636
-
A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy
-
Ogilvie I, Kennaway NG, Shoubridge EA. A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. J Clin Invest 2005; 115: 2784-92.
-
(2005)
J Clin Invest
, vol.115
, pp. 2784-2792
-
-
Ogilvie, I.1
Kennaway, N.G.2
Shoubridge, E.A.3
-
23
-
-
0035024320
-
Diagnosis of mitochondrial disorders: Clinical and biochemical approach
-
Thorburn DR, Smeitink J. Diagnosis of mitochondrial disorders: clinical and biochemical approach. J Inherit Metab Dis 2001; 24: 312-6.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 312-316
-
-
Thorburn, D.R.1
Smeitink, J.2
-
24
-
-
4344595430
-
The role of the LRPPRC gene in cytochrome oxidase assembly: Mutation causes lowered levels of COX I and COX III mRNA
-
Xu F, Morin C, Mitchell G, Ackerley C, Robinson BH. The role of the LRPPRC gene in cytochrome oxidase assembly: mutation causes lowered levels of COX I and COX III mRNA. Biochem J 2004; 382: 331-6.
-
(2004)
Biochem J
, vol.382
, pp. 331-336
-
-
Xu, F.1
Morin, C.2
Mitchell, G.3
Ackerley, C.4
Robinson, B.H.5
-
25
-
-
9144268494
-
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
-
Miller C, Saada A, Shaul N, Shabtai N, Ben-Shalom E, Shaag A, et al. Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol 2004; 56: 734-8.
-
(2004)
Ann Neurol
, vol.56
, pp. 734-738
-
-
Miller, C.1
Saada, A.2
Shaul, N.3
Shabtai, N.4
Ben-Shalom, E.5
Shaag, A.6
-
26
-
-
8344259033
-
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
-
Coenen MJ, Antonicka H, Ugalde C, Sasarman F, Rossi R, Heister JG, et al. Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med 2004; 351: 2080-6.
-
(2004)
N Engl J Med
, vol.351
, pp. 2080-2086
-
-
Coenen, M.J.1
Antonicka, H.2
Ugalde, C.3
Sasarman, F.4
Rossi, R.5
Heister, J.G.6
-
27
-
-
21244449941
-
Mitochondrial myopathy and sideroblastic anemia (MLASA): Missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA psedouridylation
-
Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA psedouridylation. J Biol Chem 2005; 280: 823-8.
-
(2005)
J Biol Chem
, vol.280
, pp. 823-828
-
-
Patton, J.R.1
Bykhovskaya, Y.2
Mengesha, E.3
Bertolotto, C.4
Fischel-Ghodsian, N.5
-
28
-
-
0038714406
-
Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain
-
Kanamori T, Nishimaki K, Asoh S, Ishibashi Y, Takata I, Kuwabara T, et al. Truncated product of the bifunctional DLST gene involved in biogenesis of the respiratory chain. EMBO J 2003; 22: 2913-23.
-
(2003)
EMBO J
, vol.22
, pp. 2913-2923
-
-
Kanamori, T.1
Nishimaki, K.2
Asoh, S.3
Ishibashi, Y.4
Takata, I.5
Kuwabara, T.6
-
29
-
-
20444364919
-
Characterization of lymphoblast mitochondria from patients with Barth syndrome
-
Xu Y, Sutachan JJ, Plesken H, Kelley RI, Schlame M. Characterization of lymphoblast mitochondria from patients with Barth syndrome. Lab Invest 2005; 85: 831.
-
(2005)
Lab Invest
, vol.85
, pp. 831
-
-
Xu, Y.1
Sutachan, J.J.2
Plesken, H.3
Kelley, R.I.4
Schlame, M.5
-
30
-
-
0032509149
-
Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain
-
Rubio JC, Martin MA, Bautista J, Campos Y, Segura D, Cabello A, et al. Myophosphorylase deficiency associated with a defect in complex I of the mitochondrial respiratory chain. J Neurol Sci 1998; 161: 110-3.
-
(1998)
J Neurol Sci
, vol.161
, pp. 110-113
-
-
Rubio, J.C.1
Martin, M.A.2
Bautista, J.3
Campos, Y.4
Segura, D.5
Cabello, A.6
-
31
-
-
0033832914
-
A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I
-
Scharfe C, Hauschild M, Klopstock T, Janssen AJ, Heidemann PH, Meitinger T, et al. A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I. J Med Genet 2000; 37: 669-73.
-
(2000)
J Med Genet
, vol.37
, pp. 669-673
-
-
Scharfe, C.1
Hauschild, M.2
Klopstock, T.3
Janssen, A.J.4
Heidemann, P.H.5
Meitinger, T.6
-
32
-
-
0030273410
-
Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation
-
Tyni T, Majander A, Kalimo H, Rapola J, Pihko H. Pathology of skeletal muscle and impaired respiratory chain function in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency with the G1528C mutation. Neuromuscul Disord 1996; 6: 327-37.
-
(1996)
Neuromuscul Disord
, vol.6
, pp. 327-337
-
-
Tyni, T.1
Majander, A.2
Kalimo, H.3
Rapola, J.4
Pihko, H.5
-
33
-
-
0020680904
-
Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
-
Langston JW, Ballard P, Tetrud JW, Irwin I. Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science 1983; 219: 979-80.
-
(1983)
Science
, vol.219
, pp. 979-980
-
-
Langston, J.W.1
Ballard, P.2
Tetrud, J.W.3
Irwin, I.4
-
34
-
-
0141533187
-
The mitochondrial complex I inhibitor annonacin is toxic to mesencephalic dopaminergic neurons by impairment of energy metabolism
-
Lannuzel A, Michel PP, Hoglinger GU, Champy P, Jousset A, Medja F, et al. The mitochondrial complex I inhibitor annonacin is toxic to mesencephalic dopaminergic neurons by impairment of energy metabolism. Neuroscience 2003; 121: 287-96.
-
(2003)
Neuroscience
, vol.121
, pp. 287-296
-
-
Lannuzel, A.1
Michel, P.P.2
Hoglinger, G.U.3
Champy, P.4
Jousset, A.5
Medja, F.6
-
35
-
-
0036051323
-
Effects of HMG-CoA reductase inhibitors on skeletal muscle: Are all statins the same?
-
Evans M, Rees A. Effects of HMG-CoA reductase inhibitors on skeletal muscle: are all statins the same?. Drug Safe 2002; 25: 649-63.
-
(2002)
Drug Safe
, vol.25
, pp. 649-663
-
-
Evans, M.1
Rees, A.2
-
36
-
-
0037385480
-
Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease
-
Van der Walt JM, Nicodemus KK, Martin ER, Scott WK, Nance MA, Watts RL, et al. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am J Hum Genet 2003; 72: 804-11.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 804-811
-
-
Van der Walt, J.M.1
Nicodemus, K.K.2
Martin, E.R.3
Scott, W.K.4
Nance, M.A.5
Watts, R.L.6
-
37
-
-
3242707016
-
Analysis of European mitochondrial haplogroups with Alzheimer disease risk
-
Van der Walt JM, Dementieva YA, Martin ER, Scott WK, Nicodemus KK, Kroner CC, et al. Analysis of European mitochondrial haplogroups with Alzheimer disease risk. Neurosci Lett 2004; 365: 28-32.
-
(2004)
Neurosci Lett
, vol.365
, pp. 28-32
-
-
Van der Walt, J.M.1
Dementieva, Y.A.2
Martin, E.R.3
Scott, W.K.4
Nicodemus, K.K.5
Kroner, C.C.6
-
38
-
-
0043066954
-
Increased variation in mtDNA in patients with familial sensorineural hearing impairment
-
Lehtonen MS, Moilanen JS, Majamaa K. Increased variation in mtDNA in patients with familial sensorineural hearing impairment. Hum Genet 2003; 113: 220-7.
-
(2003)
Hum Genet
, vol.113
, pp. 220-227
-
-
Lehtonen, M.S.1
Moilanen, J.S.2
Majamaa, K.3
-
39
-
-
0032612858
-
Mitochondrial DNA variations in patients with type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239
-
Sherratt EJ, Thomas AW, Gagg JW, Majid A, Alcolado JC. Mitochondrial DNA variations in patients with type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. Hum Mutat 1999; 13: 412-3.
-
(1999)
Hum Mutat
, vol.13
, pp. 412-413
-
-
Sherratt, E.J.1
Thomas, A.W.2
Gagg, J.W.3
Majid, A.4
Alcolado, J.C.5
-
40
-
-
20044364344
-
mtDNA mutations increase tumorigenicity in prostate cancer
-
Petros JA, Baumann AK, Ruiz-Pesini E, Amin MB, Sun CQ, Hall J, et al. mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A 2005; 102: 719-24.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 719-724
-
-
Petros, J.A.1
Baumann, A.K.2
Ruiz-Pesini, E.3
Amin, M.B.4
Sun, C.Q.5
Hall, J.6
|