-
1
-
-
0026624980
-
Diseases of the mitochondrial DNA
-
Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992;61:1175-1212
-
(1992)
Annu Rev Biochem
, vol.61
, pp. 1175-1212
-
-
Wallace, D.C.1
-
2
-
-
0024317560
-
Spontaneous Kearns - Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy
-
Shoffner JM, Lott MT, Voljavec AS, Soueidan SA, Costigan DA, Wallace DC. Spontaneous Kearns - Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: A slip-replication model and metabolic therapy. Proc Natl Acad Sci USA 1989;86:7952-56
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 7952-7956
-
-
Shoffner, J.M.1
Lott, M.T.2
Voljavec, A.S.3
Soueidan, S.A.4
Costigan, D.A.5
Wallace, D.C.6
-
3
-
-
0031900991
-
The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics
-
Chomyn A. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics. Am J Hum Genet 1998;62:745-51
-
(1998)
Am J Hum Genet
, vol.62
, pp. 745-751
-
-
Chomyn, A.1
-
5
-
-
0026752276
-
The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: A model for pathogenesis
-
Schon EA, Koga Y, Davidson M, Moreas CT, King MP. The mitochondrial tRNA(Leu)(UUR)) mutation in MELAS: A model for pathogenesis. Biochim Biophys Acta 1992;1101:206-9
-
(1992)
Biochim Biophys Acta
, vol.1101
, pp. 206-209
-
-
Schon, E.A.1
Koga, Y.2
Davidson, M.3
Moreas, C.T.4
King, M.P.5
-
6
-
-
0030779110
-
Pathophysiology of the MELAS 3243 transition mutation
-
Flierl A, Reichmann H, Seibel P. Pathophysiology of the MELAS 3243 transition mutation. J Biol Chem 1997;272:27189-96
-
(1997)
J Biol Chem
, vol.272
, pp. 27189-27196
-
-
Flierl, A.1
Reichmann, H.2
Seibel, P.3
-
7
-
-
0342470992
-
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
-
Börner GV, Zeviani M, Tiranti V, et al. Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum Mol Gen 2000:9:467-75
-
(2000)
Hum Mol Gen
, vol.9
, pp. 467-475
-
-
Börner, G.V.1
Zeviani, M.2
Tiranti, V.3
-
8
-
-
0025836655
-
Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi J, Ohta S, Kikuchi A, Takemitsu M, Goto Y, Nonaka I. Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA 1991;88:10614-18
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 10614-10618
-
-
Hayashi, J.1
Ohta, S.2
Kikuchi, A.3
Takemitsu, M.4
Goto, Y.5
Nonaka, I.6
-
9
-
-
7344241008
-
Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion
-
Porteous WK, James AM, Sheard PW, et al. Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem 1998;257:192-201
-
(1998)
Eur J Biochem
, vol.257
, pp. 192-201
-
-
Porteous, W.K.1
James, A.M.2
Sheard, P.W.3
-
10
-
-
0025986459
-
Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients
-
Yamamoto M, Clemens PR, Engel AG. Mitochondrial DNA deletions in mitochondrial cytopathies: Observations in 19 patients. Neurology 1991;41:1822-88
-
(1991)
Neurology
, vol.41
, pp. 1822-1888
-
-
Yamamoto, M.1
Clemens, P.R.2
Engel, A.G.3
-
11
-
-
0028341210
-
Chronic progressive external ophthalmoplegia: A correlative study of quantitative molecular data and histochemical nd biochemical profile
-
Fassati A, Bordoni A, Amboni P, et al. Chronic progressive external ophthalmoplegia: A correlative study of quantitative molecular data and histochemical nd biochemical profile. J Neurol Sci 1994;123: 140-46
-
(1994)
J Neurol Sci
, vol.123
, pp. 140-146
-
-
Fassati, A.1
Bordoni, A.2
Amboni, P.3
-
12
-
-
0029068494
-
Chronic progressive external ophthalmoplegia with ragged-red fibers: Clinical, morphological and genetic investigations in 43 patients
-
Laforet P, Lombes A, Eymard B, et al. Chronic progressive external ophthalmoplegia with ragged-red fibers: Clinical, morphological and genetic investigations in 43 patients. Neuromuscul Disord 1995;5:399-413
-
(1995)
Neuromuscul Disord
, vol.5
, pp. 399-413
-
-
Laforet, P.1
Lombes, A.2
Eymard, B.3
-
13
-
-
0030716289
-
Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia
-
Kiyomoto BH, Tengan CH, Moraes CT, Oliveira ASB, Gabbai AA. Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia. J Neurol Sci 1997;152:160-65
-
(1997)
J Neurol Sci
, vol.152
, pp. 160-165
-
-
Kiyomoto, B.H.1
Tengan, C.H.2
Moraes, C.T.3
Oliveira, A.S.B.4
Gabbai, A.A.5
-
14
-
-
0029077496
-
The mitochondrial DNA transfer RNA-Leu(UUR) A-G(3243) mutation. A clinical and genetic study
-
Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE. The mitochondrial DNA transfer RNA-Leu(UUR) A-G(3243) mutation. A clinical and genetic study. Brain 1995; 118:721-34
-
(1995)
Brain
, vol.118
, pp. 721-734
-
-
Hammans, S.R.1
Sweeney, M.G.2
Hanna, M.G.3
Brockington, M.4
Morgan-Hughes, J.A.5
Harding, A.E.6
-
15
-
-
0034010157
-
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
-
Chinnery PF, Taylor DJ, Brown DT, Manners D, Styles P, Lodi R. Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo. Ann Neurol 2000;47:381-84
-
(2000)
Ann Neurol
, vol.47
, pp. 381-384
-
-
Chinnery, P.F.1
Taylor, D.J.2
Brown, D.T.3
Manners, D.4
Styles, P.5
Lodi, R.6
-
16
-
-
0035942301
-
No correlation between muscle A3243G mutation load and mitochondrial function in vivo
-
200
-
Chinnery PF, Taylor DJ, Manners D, Styles P, Lodi R. No correlation between muscle A3243G mutation load and mitochondrial function in vivo. Neurology 200;56:1101-4
-
Neurology
, vol.56
, pp. 1101-1104
-
-
Chinnery, P.F.1
Taylor, D.J.2
Manners, D.3
Styles, P.4
Lodi, R.5
-
17
-
-
0039699870
-
New insights into the metabolic consequences of large-scale mtDNA deletions: A quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle
-
Schröder R, Vielhaber S, Wiedemann FR, et al. New insights into the metabolic consequences of large-scale mtDNA deletions: A quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle. J Neuropath Exp Neurol 2000; 59:353-60
-
(2000)
J Neuropath Exp Neurol
, vol.59
, pp. 353-360
-
-
Schröder, R.1
Vielhaber, S.2
Wiedemann, F.R.3
-
18
-
-
0033950567
-
Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree
-
Dubeau F, De Stefano N, Zifkin BG, Arnold DL, Shoubridge EA. Oxidative phosphorylation defect in the brains of carriers of the tRNAleu(UUR) A3243G mutation in a MELAS pedigree. Ann Neurol 2000;47:179-85
-
(2000)
Ann Neurol
, vol.47
, pp. 179-185
-
-
Dubeau, F.1
De Stefano, N.2
Zifkin, B.G.3
Arnold, D.L.4
Shoubridge, E.A.5
-
19
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) 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 tRNA(Lys) mutation. Cell 1990;61:931-37
-
(1990)
Cell
, vol.61
, 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
-
20
-
-
0029890175
-
Spectroscopic determination of cytochrome c oxidase content in tissues containing myoglobin or hemoglobin
-
Balaban RS, Mootha VK, Arai A. Spectroscopic determination of cytochrome c oxidase content in tissues containing myoglobin or hemoglobin. Anal Biochem 1996;237:274-78
-
(1996)
Anal Biochem
, vol.237
, pp. 274-278
-
-
Balaban, R.S.1
Mootha, V.K.2
Arai, A.3
-
21
-
-
0020478942
-
Function of the iron-sulfur protein of the cytochrome b-c1 segment in electron transfer reactions of the mitochondrial respiratory chain
-
Edwards CA, Bowyer JR, Trumpower BL. Function of the iron-sulfur protein of the cytochrome b-c1 segment in electron transfer reactions of the mitochondrial respiratory chain. J Biol Chem 1982; 257:3705-13
-
(1982)
J Biol Chem
, vol.257
, pp. 3705-3713
-
-
Edwards, C.A.1
Bowyer, J.R.2
Trumpower, B.L.3
-
22
-
-
0034023951
-
Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples
-
Wiedemann FR, Vielhaber S, Schröder S, Elger CE, Kunz WS. Evaluation of methods for the determination of mitochondrial respiratory chain enzyme activities in human skeletal muscle samples. Anal Biochem 2000;279:55-60
-
(2000)
Anal Biochem
, vol.279
, pp. 55-60
-
-
Wiedemann, F.R.1
Vielhaber, S.2
Schröder, S.3
Elger, C.E.4
Kunz, W.S.5
-
23
-
-
0021332775
-
Characterization of the interaction of cytochrome c and mitochondrial ubiquinol-cytochrome c reductase
-
Speck SH, Margoliash E. Characterization of the interaction of cytochrome c and mitochondrial ubiquinol-cytochrome c reductase. J Biol Chem 1984;259:1064-72
-
(1984)
J Biol Chem
, vol.259
, pp. 1064-1072
-
-
Speck, S.H.1
Margoliash, E.2
-
25
-
-
0029032410
-
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
-
Mariotti C, Savarese N, Suomalainen A, et al. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J Neurol 1995;242:304-12
-
(1995)
J Neurol
, vol.242
, pp. 304-312
-
-
Mariotti, C.1
Savarese, N.2
Suomalainen, A.3
-
26
-
-
0027767774
-
Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function
-
Hayashi J, Ohta S, Takai D, et al. Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. Biochem Biophys Res Commun 1993;197:1049-55
-
(1993)
Biochem Biophys Res Commun
, vol.197
, pp. 1049-1055
-
-
Hayashi, J.1
Ohta, S.2
Takai, D.3
-
27
-
-
0028326541
-
Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243
-
Petruzzella V, Moraes CT, Sano MC, Bonilla E, DiMauro S, Schon EA. Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243. Hum Mol Genet 1994;3:449-54
-
(1994)
Hum Mol Genet
, vol.3
, pp. 449-454
-
-
Petruzzella, V.1
Moraes, C.T.2
Sano, M.C.3
Bonilla, E.4
DiMauro, S.5
Schon, E.A.6
-
28
-
-
0033976350
-
Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes
-
Koga Y, Koga A, Iwanaga R, et al. Single-fiber analysis of mitochondrial A3243G mutation in four different phenotypes Acta Neuropathol 2000;99:186-90
-
(2000)
Acta Neuropathol
, vol.99
, pp. 186-190
-
-
Koga, Y.1
Koga, A.2
Iwanaga, R.3
|