-
1
-
-
78651126508
-
Severe hypermetabolism of non thyroid origin with a defect in the maintenance of mitochondrial respiratory control: A correlated clinical, biochemical and morphological study
-
Luft, R., Ikkos, D., Palmieri, G., Ernster, L. and Afzelius, B. (1962) Severe hypermetabolism of non thyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical and morphological study. J Clin. Invest. 41, 1776-1804
-
(1962)
J Clin. Invest.
, vol.41
, pp. 1776-1804
-
-
Luft, R.1
Ikkos, D.2
Palmieri, G.3
Ernster, L.4
Afzelius, B.5
-
2
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace, D. (1999) Mitochondrial diseases in man and mouse. Science 283, 1482-1488
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.1
-
3
-
-
0030788482
-
Mitochondrial DNA mutations and pathogenesis
-
Schon, E., Bonilla, E. and DiMauro, S. (1997) Mitochondrial DNA mutations and pathogenesis. J. Bioenerg. Biomembr. 29, 131-149
-
(1997)
J. Bioenerg. Biomembr.
, vol.29
, pp. 131-149
-
-
Schon, E.1
Bonilla, E.2
DiMauro, S.3
-
4
-
-
0032788739
-
Mitochondrial DNA and disease
-
Chinnery, P. F and Turnbull, D. M. (1999) Mitochondrial DNA and disease. Lancet 354, SI17-SI21
-
(1999)
Lancet
, vol.354
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
5
-
-
0035459268
-
Mitochondrial encephalomyopathies: Gene mutation
-
Servidei, S. (2001) Mitochondrial encephalomyopathies: gene mutation. Neuromuscular Disord. 11, 690-695
-
(2001)
Neuromuscular Disord.
, vol.11
, pp. 690-695
-
-
Servidei, S.1
-
6
-
-
0034326946
-
Mitochondrial genetics and diseases
-
Schon, E. (2000) Mitochondrial genetics and diseases. Trends Biochem. Sci 25, 555-559
-
(2000)
Trends Biochem. Sci.
, vol.25
, pp. 555-559
-
-
Schon, E.1
-
7
-
-
0034951327
-
Mitochondrial DNA mutations in human disease
-
DiMauro, S. and Schon, E. A. (2001) Mitochondrial DNA mutations in human disease. Am. J. Med. Genet. 106, 18-26
-
(2001)
Am. J. Med. Genet.
, vol.106
, pp. 18-26
-
-
DiMauro, S.1
Schon, E.A.2
-
8
-
-
0034194090
-
The changing face of mitochondrial research
-
Capaldi, R. (2000) The changing face of mitochondrial research. Trends Biochem. Sci. 25, 212-215
-
(2000)
Trends Biochem. Sci.
, vol.25
, pp. 212-215
-
-
Capaldi, R.1
-
9
-
-
0029317094
-
Human mitochondria: Distinct organelles or dynamic network?
-
Preiss, T., Lowerson, S. A., Weber, K. and Lightowlers, R. N. (1995) Human mitochondria: distinct organelles or dynamic network? Trends Genet. 11, 211-212
-
(1995)
Trends Genet.
, vol.11
, pp. 211-212
-
-
Preiss, T.1
Lowerson, S.A.2
Weber, K.3
Lightowlers, R.N.4
-
10
-
-
0033609846
-
Nonrandom tissue distribution of mutant mtDNA
-
Chinnery, P. F., Zwijnenburg, P. J., Walker, M., Howell, N., Taylor, R. W., Lightowlers, R. N., Bindoff, L. and Turnbull, D. M. (1999) Nonrandom tissue distribution of mutant mtDNA. Am. J. Med. Genet. 85, 498-501
-
(1999)
Am. J. Med. Genet.
, vol.85
, pp. 498-501
-
-
Chinnery, P.F.1
Zwijnenburg, P.J.2
Walker, M.3
Howell, N.4
Taylor, R.W.5
Lightowlers, R.N.6
Bindoff, L.7
Turnbull, D.M.8
-
11
-
-
0034333230
-
The inheritance of mitochondrial DNA heteroplasmy: Random drift, selection or both?
-
Chinnery, P., Thorburn, D., Samuels, D., White, S., Dahl, H., Turnbull, D., Lightowlers, R. and Howell, N. (2000) The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends Genet. 16, 501-505
-
(2000)
Trends Genet.
, vol.16
, pp. 501-505
-
-
Chinnery, P.1
Thorburn, D.2
Samuels, D.3
White, S.4
Dahl, H.5
Turnbull, D.6
Lightowlers, R.7
Howell, N.8
-
12
-
-
0030826380
-
Myodonic Epilepsy and Ragged-Red Fiber (MERRF) syndrome: Selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNA lys mutation in individual neuronal isolates
-
Zhou, L., Chomyn, A., Attardi, G. and Miller, C. (1997) Myodonic Epilepsy and Ragged-Red Fiber (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNA lys mutation in individual neuronal isolates. J. Neurosci. 17, 7746-7753
-
(1997)
J. Neurosci.
, vol.17
, pp. 7746-7753
-
-
Zhou, L.1
Chomyn, A.2
Attardi, G.3
Miller, C.4
-
13
-
-
0035942301
-
No correlation between muscle A3243G mutation load and mitochondrial function in vivo
-
Chinnery, P. F., Tayror, D. J., Manners, D., Styles, P. and Lodi, R. (2001) No correlation between muscle A3243G mutation load and mitochondrial function in vivo. Neurology 56, 1101-1104
-
(2001)
Neurology
, vol.56
, pp. 1101-1104
-
-
Chinnery, P.F.1
Taylor, D.J.2
Manners, D.3
Styles, P.4
Lodi, R.5
-
14
-
-
0029029469
-
Mitochondrial DNA (mtDNA) diseases: Correlation of genotype to phenotype
-
Morgan-Hughes, J. A., Sweeney, M. G., Cooper, J. M., Hammans, S. R., Brockington, M., Schapira, A. H., Harding, A. E. and Clark, J. B. (1995) Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim. Biophys. Acta 1271, 135-140
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 135-140
-
-
Morgan-Hughes, J.A.1
Sweeney, M.G.2
Cooper, J.M.3
Hammans, S.R.4
Brockington, M.5
Schapira, A.H.6
Harding, A.E.7
Clark, J.B.8
-
15
-
-
0031958231
-
Mitochondrial genetics and hearing loss: The missing link between genotype and phenotype
-
Fischel-Ghodsian, N. (1998) Mitochondrial genetics and hearing loss: the missing link between genotype and phenotype. Proc. Soc. Exp. Biol. Med. 218, 1-6
-
(1998)
Proc. Soc. Exp. Biol. Med.
, vol.218
, pp. 1-6
-
-
Fischel-Ghodsian, N.1
-
16
-
-
0033137153
-
The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy
-
Brown, M. (1999) The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy. J. Neurol. Sci. 165, 1-5
-
(1999)
J. Neurol. Sci.
, vol.165
, pp. 1-5
-
-
Brown, M.1
-
17
-
-
0028102480
-
Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation
-
Vernham, G. A., Reid, F. M., Rundle, P. A. and Jacobs, H. T. (1994) Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation. Clin. Otolaryngol. 19, 314-319
-
(1994)
Clin. Otolaryngol.
, vol.19
, pp. 314-319
-
-
Vernham, G.A.1
Reid, F.M.2
Rundle, P.A.3
Jacobs, H.T.4
-
18
-
-
0033808703
-
Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders
-
Fischel-Ghodsian, N. (2000) Homoplasmic mitochondrial DNA diseases as the paradigm to understand the tissue specificity and variable clinical severity of mitochondrial disorders. Mol. Genet. Metab. 71, 93-99
-
(2000)
Mol. Genet. Metab.
, vol.71
, pp. 93-99
-
-
Fischel-Ghodsian, N.1
-
19
-
-
4243414251
-
Genotype-phenotype correlations in patients with SCO2 mutations
-
Venice, Italy, 19-23 September 2001, abstr. book
-
Freisinger, P., Horvath, R., Lochmuller, H., Shoubridge, E. and Jaksch, M. (2001) Genotype-phenotype correlations in patients with SCO2 mutations. In The Fifth European Meeting on Mitochondrial Pathology, Venice, Italy, 19-23 September 2001, abstr. book, p. 67
-
(2001)
The Fifth European Meeting on Mitochondrial Pathology
, pp. 67
-
-
Freisinger, P.1
Horvath, R.2
Lochmuller, H.3
Shoubridge, E.4
Jaksch, M.5
-
20
-
-
0033761979
-
Mitochondrial DNA mutations in the pathogenesis of human disease
-
Chinnery, P. F. and Turnbull, D. M. (2000) Mitochondrial DNA mutations in the pathogenesis of human disease. Mol. Med. Today 6, 425-432
-
(2000)
Mol. Med. Today
, vol.6
, pp. 425-432
-
-
Chinnery, P.F.1
Turnbull, D.M.2
-
21
-
-
0023920693
-
Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA
-
King, M. and Attardi, G. (1988) Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA. Cell 62, 811-819
-
(1988)
Cell
, vol.62
, pp. 811-819
-
-
King, M.1
Attardi, G.2
-
22
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
-
King, M. and Attardi, G. (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246, 500-503
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.1
Attardi, G.2
-
23
-
-
0022652982
-
Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance
-
Wallace, D. C. (1986) Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance. Somat. Cell Mol. Genet. 12, 41-49
-
(1986)
Somat. Cell Mol. Genet.
, vol.12
, pp. 41-49
-
-
Wallace, D.C.1
-
24
-
-
0025368281
-
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA-Lys mutation
-
Shoffner, J. M., Lott, M. T., Lezza, A. M. S., Seibel, P., Ballinger, S. W. and Wallace, D. C. (1990) Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA-Lys mutation. Cell 61, 931-937
-
(1990)
Cell
, vol.61
, pp. 931-937
-
-
Shoffner, J.M.1
Lott, M.T.2
Lezza, A.M.S.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
25
-
-
0026629844
-
Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts
-
Miyabayashi, S., Hanamizu, H., Nakamura, R., Endo, H. and Tada, K. (1992) Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts. J. Inher. Metab. Dis. 15, 797-802
-
(1992)
J. Inher. Metab. Dis.
, vol.15
, pp. 797-802
-
-
Miyabayashi, S.1
Hanamizu, H.2
Nakamura, R.3
Endo, H.4
Tada, K.5
-
26
-
-
0025836655
-
Introduction of disease-related mitohcondrial DNA deletions into Hela cells lacking mitochondrial DNA results in mitochondrial dysfunction
-
Hayashi, J. I., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y. and Nonaka, I. (1991) Introduction of disease-related mitohcondrial DNA deletions into Hela cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc. Natl. Acad. Sci. U.S.A. 88, 10614-10618
-
(1991)
Proc. Natl. Acad. Sci. U.S.A.
, vol.88
, pp. 10614-10618
-
-
Hayashi, J.I.1
Ohta, S.2
Kikuchi, A.3
Takemitsu, M.4
Goto, Y.5
Nonaka, I.6
-
27
-
-
0028352261
-
Tissular distribution of heteroplasmy and ultrastructural studies of mitochondria from a Drosophila subobscura mitochondrial deletion mutant
-
Lécher, P., Béziat, F. and Alziari, S. (1994) Tissular distribution of heteroplasmy and ultrastructural studies of mitochondria from a Drosophila subobscura mitochondrial deletion mutant. Biol. Cell 80, 25-33
-
(1994)
Biol. Cell
, vol.80
, pp. 25-33
-
-
Lécher, P.1
Béziat, F.2
Alziari, S.3
-
28
-
-
0033971346
-
Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria
-
Bai, Y., Shakeley, R. M. and Attardi, G. (2000) Tight control of respiration by NADH dehydrogenase ND5 subunit gene expression in mouse mitochondria. Mol. Cell. Biol. 20, 805-815
-
(2000)
Mol. Cell. Biol.
, vol.20
, pp. 805-815
-
-
Bai, Y.1
Shakeley, R.M.2
Attardi, G.3
-
29
-
-
0000355861
-
Oxidative phosphorylation diseases
-
Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., eds, McGraw Hill, New York
-
Shoffner, J. and Wallace, D. (1995) Oxidative phosphorylation diseases. In The Metabolic Basis of Inherited Disease (Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., eds), pp. 1535-1609, McGraw Hill, New York
-
(1995)
The Metabolic Basis of Inherited Disease
, pp. 1535-1609
-
-
Shoffner, J.1
Wallace, D.2
-
30
-
-
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
-
Petruzzela, V., Moraes, C., Sano, M., Bonilla, E., DiMauro, S. and Schon, E. (1994) 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. 3, 449-454
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 449-454
-
-
Petruzzela, V.1
Moraes, C.2
Sano, M.3
Bonilla, E.4
DiMauro, S.5
Schon, E.6
-
31
-
-
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
-
Schroder, R., Vielhaber, S., Wiedemann, F. R., Kornblum, C., Papassotiropoulos, A., Broich, P., Zierz, S., Elger, C. E., Reichmann, H., Seibel, P. et al. (2000) 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. Neuropathol. Exp. Neurol. 59, 353-360
-
(2000)
J. Neuropathol. Exp. Neurol.
, vol.59
, pp. 353-360
-
-
Schroder, R.1
Vielhaber, S.2
Wiedemann, F.R.3
Kornblum, C.4
Papassotiropoulos, A.5
Broich, P.6
Zierz, S.7
Elger, C.E.8
Reichmann, H.9
Seibel, P.10
-
32
-
-
0031926427
-
Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres
-
Moslemi, A. R., Tulinius, M., Holme, E. and Oldfors, A. (1998) Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres. Neuromuscular Disord. 8, 345-349
-
(1998)
Neuromuscular Disord.
, vol.8
, pp. 345-349
-
-
Moslemi, A.R.1
Tulinius, M.2
Holme, E.3
Oldfors, A.4
-
33
-
-
0034683245
-
Single-fiber PCR in MELAS(3243) patients: Correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype
-
Silvestri, G., Rana, M., Odoardi, F., Modoni, A., Paris, E., Papacci, M., Tonali, P. and Servidei, S. (2000) Single-fiber PCR in MELAS(3243) patients: correlations between intratissue distribution and phenotypic expression of the mtDNA(A3243G) genotype. Am. J. Med. Genet. 94, 201-206
-
(2000)
Am. J. Med. Genet.
, vol.94
, pp. 201-206
-
-
Silvestri, G.1
Rana, M.2
Odoardi, F.3
Modoni, A.4
Paris, E.5
Papacci, M.6
Tonali, P.7
Servidei, S.8
-
34
-
-
0033060854
-
The mitochondrial genome: Structure, transcription, translation and replication
-
Taanman, J. (1999) The mitochondrial genome: structure, transcription, translation and replication. Biochim. Biophys. Acta 1410, 103-123
-
(1999)
Biochim. Biophys. Acta
, vol.1410
, pp. 103-123
-
-
Taanman, J.1
-
35
-
-
0027992780
-
The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion
-
Spelbrink, J., Van Oost, B. and Van den Bogert, C. (1994) The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion. Hum. Mol. Genet. 3, 1989-1997
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1989-1997
-
-
Spelbrink, J.1
Van Oost, B.2
Van Den Bogert, C.3
-
36
-
-
0035861593
-
In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit 1
-
D'Aurelio, M., Pallotti, F., Barrientos, A., Gajewski, C., Kwong, J., Flint Beal, M. and Manfredi, G. (2001) In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit 1. J. Biol. Chem. 276, 46925-46932
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 46925-46932
-
-
D'Aurelio, M.1
Pallotti, F.2
Barrientos, A.3
Gajewski, C.4
Kwong, J.5
Flint Beal, M.6
Manfredi, G.7
-
37
-
-
0034705419
-
The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode syndrome-associated human mitochondrial tRNAleu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes
-
Chomyn, A., Enriquez, J., Micol, V., Fernandez-Silva, P. and Attardi, G. (2000) The mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episode syndrome-associated human mitochondrial tRNAleu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. J. Biol. Chem. 275, 19198-19209
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 19198-19209
-
-
Chomyn, A.1
Enriquez, J.2
Micol, V.3
Fernandez-Silva, P.4
Attardi, G.5
-
38
-
-
0029059067
-
MtDNA mutation in MERRF syndrome cause defective aminoacylation of tRNAlys and premature translational termination
-
Enriquez, J., Chomyn, A. and Attardi, G. (1995) MtDNA mutation in MERRF syndrome cause defective aminoacylation of tRNAlys and premature translational termination. Nat. Genet. 10, 47-52
-
(1995)
Nat. Genet.
, vol.10
, pp. 47-52
-
-
Enriquez, J.1
Chomyn, A.2
Attardi, G.3
-
39
-
-
0031900991
-
Mitochondrial genetics '98. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human function and genetics
-
Chomyn, A. (1998) Mitochondrial genetics '98. The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human function and genetics. Am. J. Hum. Genet. 62, 745-751
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 745-751
-
-
Chomyn, A.1
-
40
-
-
0012839721
-
Organisation and expression of the mitochondrial genome
-
Lestienne, P., ed., Springer-Verlag, Bordeaux
-
Vézier, J. and Lestienne, P. (2000) Organisation and expression of the mitochondrial genome. In Mitochondrial Diseases: Models and Methods (Lestienne, P., ed.), pp. 5-15, Springer-Verlag, Bordeaux
-
(2000)
Mitochondrial Diseases: Models and Methods
, pp. 5-15
-
-
Vézier, J.1
Lestienne, P.2
-
41
-
-
0026621445
-
lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERFF)
-
lys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERFF). Am. J. Hum. Genet. 51, 1187-1200
-
(1992)
Am. J. Hum. Genet.
, vol.51
, pp. 1187-1200
-
-
Boulet, L.1
Karpati, G.2
Shoubridge, E.3
-
42
-
-
0033081419
-
Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR)
-
Helm, M., Florentz, C., Chomyn, A. and Attardi, G. (1999) Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR). Nucleic Acids Res. 27, 756-763
-
(1999)
Nucleic Acids Res.
, vol.27
, pp. 756-763
-
-
Helm, M.1
Florentz, C.2
Chomyn, A.3
Attardi, G.4
-
43
-
-
0029767729
-
Evidence for aminoacylation-induced conformational changes in human mitochondrial tRNAs
-
Enriquez, J. and Attardi, G. (1996) Evidence for aminoacylation-induced conformational changes in human mitochondrial tRNAs. Proc. Natl. Acad. Sci. U.S.A. 93, 8300-8305
-
(1996)
Proc. Natl. Acad. Sci. U.S.A.
, vol.93
, pp. 8300-8305
-
-
Enriquez, J.1
Attardi, G.2
-
44
-
-
0025601562
-
Uncharged tRNA, protein synthesis, and the bacterial stringent response
-
Goldman, E. and Jakubowski, H. (1990) Uncharged tRNA, protein synthesis, and the bacterial stringent response. Mol. Microbiol. 4, 2035-2040
-
(1990)
Mol. Microbiol.
, vol.4
, pp. 2035-2040
-
-
Goldman, E.1
Jakubowski, H.2
-
45
-
-
0035844223
-
Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles
-
Hanson, B. J., Carrozzo, R., Piemonte, F., Tessa, A., Robinson, B. H. and Capaldi, R. A. (2001) Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles. J Biol. Chem. 276, 16296-16301
-
(2001)
J Biol. Chem.
, vol.276
, pp. 16296-16301
-
-
Hanson, B.J.1
Carrozzo, R.2
Piemonte, F.3
Tessa, A.4
Robinson, B.H.5
Capaldi, R.A.6
-
46
-
-
0035937748
-
Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns
-
Triepels, R., Hanson, B., van den Heuvel, L., Sundell, L., Marusich, M., Smeitink, J. and Capaldi, R. (2001) Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns. J. Biol. Chem. 276, 8892-8897
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 8892-8897
-
-
Triepels, R.1
Hanson, B.2
Van Den Heuvel, L.3
Sundell, L.4
Marusich, M.5
Smeitink, J.6
Capaldi, R.7
-
47
-
-
0012793242
-
Lack of correlation between phenotype and genotype for a stop-codon mutation in subunit I of cytochrome c oxydase
-
Venice, Italy, 19-23 September 2001, abstr. book
-
Gattermann, N., Wnuck-Lipinski, K. and Hofhaus. G. (2001) Lack of correlation between phenotype and genotype for a stop-codon mutation in subunit I of cytochrome c oxydase. In The Fifth European Meeting on Mitochondrial Pathology, Venice, Italy, 19-23 September 2001, abstr. book p. 152
-
(2001)
The Fifth European Meeting on Mitochondrial Pathology
, pp. 152
-
-
Gattermann, N.1
Wnuck-Lipinski, K.2
Hofhaus, G.3
-
48
-
-
0033584845
-
Threshold effect and tissue specificity
-
Rossignol, R., Malgat, M., Mazat, J.-P. and Letellier, T. (1999) Threshold effect and tissue specificity. J. Biol. Chem. 274, 33426-33432
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 33426-33432
-
-
Rossignol, R.1
Malgat, M.2
Mazat, J.-P.3
Letellier, T.4
-
49
-
-
0015824267
-
The control of flux
-
Cambridge University Press, Cambridge
-
Kacser, H. and Burns, J. A. (1973) The control of flux. In Rate Control of Biological Processes, pp. 65-104, Cambridge University Press, Cambridge
-
(1973)
Rate Control of Biological Processes
, pp. 65-104
-
-
Kacser, H.1
Burns, J.A.2
-
50
-
-
0015989446
-
A linear steady-state treatment of enzymatic chains. General properties, control and effector strength
-
Heinrich, R. and Rapoport, T. A. (1974) A linear steady-state treatment of enzymatic chains. General properties, control and effector strength. Eur. J. Biochem. 42, 89-95
-
(1974)
Eur. J. Biochem.
, vol.42
, pp. 89-95
-
-
Heinrich, R.1
Rapoport, T.A.2
-
51
-
-
0023709196
-
Metabolism control theory: A structural approach
-
Reder, C. (1988) Metabolism control theory: a structural approach. J. Theor. Biol. 135, 175-201
-
(1988)
J. Theor. Biol.
, vol.135
, pp. 175-201
-
-
Reder, C.1
-
53
-
-
0034177951
-
Tissue variation in the control of oxidative phosphorylations: Implication for mitochondrial diseases
-
Rossignol, R., Letellier, T., Malgat, M., Rocher, C. and Mazat, J. P. (2000) Tissue variation in the control of oxidative phosphorylations: implication for mitochondrial diseases. Biochem. J. 347, 45-53
-
(2000)
Biochem. J.
, vol.347
, pp. 45-53
-
-
Rossignol, R.1
Letellier, T.2
Malgat, M.3
Rocher, C.4
Mazat, J.P.5
-
54
-
-
0035282929
-
What do mitochondrial diseases teach us about normal mitochondrial function... that we already knew: Threshold expression of mitochondrial defects
-
Mazat, J. P., Rossignol, R., Malgat, M., Rocher, C., Faustin, B. and Letellier, T. (2001) What do mitochondrial diseases teach us about normal mitochondrial function ... that we already knew: threshold expression of mitochondrial defects. Biochim. Biophys. Acta 1504, 1-11
-
(2001)
Biochim. Biophys. Acta
, vol.1504
, pp. 1-11
-
-
Mazat, J.P.1
Rossignol, R.2
Malgat, M.3
Rocher, C.4
Faustin, B.5
Letellier, T.6
-
55
-
-
0027932783
-
The kinetic basis of the threshold effects observed in mitochondrial diseases: A systemic approach
-
Letellier, T., Heinrich, R., Malgat, M. and Mazat, J. P. (1994) The kinetic basis of the threshold effects observed in mitochondrial diseases: a systemic approach. Biochem. J. 302, 171-174
-
(1994)
Biochem. J.
, vol.302
, pp. 171-174
-
-
Letellier, T.1
Heinrich, R.2
Malgat, M.3
Mazat, J.P.4
-
56
-
-
0029873904
-
Threshold effects and control of oxidative phosphorylation in nonsynaptic rat brain mitochondria
-
Davey, G. P. and Clark, J. B. (1996) Threshold effects and control of oxidative phosphorylation in nonsynaptic rat brain mitochondria. J. Neurochem. 66, 1617-1624
-
(1996)
J. Neurochem.
, vol.66
, pp. 1617-1624
-
-
Davey, G.P.1
Clark, J.B.2
-
57
-
-
0030707553
-
Threshold effects in synaptosomal and non synaptic mitochondria from hippocampal CA1 and paramedian neocortex brain regions
-
Davey, G. P., Canevari, L. and Clark, J. B. (1997) Threshold effects in synaptosomal and non synaptic mitochondria from hippocampal CA1 and paramedian neocortex brain regions. J. Neurochem. 69, 2564-2570
-
(1997)
J. Neurochem.
, vol.69
, pp. 2564-2570
-
-
Davey, G.P.1
Canevari, L.2
Clark, J.B.3
-
58
-
-
0032557511
-
Energy thresholds in brain mitochondria. Potential involvement in neurodegeneration
-
Davey, G. P., Penchen, S. and Clark, J. B. (1998) Energy thresholds in brain mitochondria. Potential involvement in neurodegeneration. J. Biol. Chem. 273, 12753-12757
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 12753-12757
-
-
Davey, G.P.1
Penchen, S.2
Clark, J.B.3
-
59
-
-
0031029962
-
In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells
-
Villani, G. and Attardi, G. (1997) In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells. Proc. Natl. Acad. Sci. U.S.A. 94, 1166-1171
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 1166-1171
-
-
Villani, G.1
Attardi, G.2
-
60
-
-
0033610865
-
Low reserve of cytochrome c oxidase in vivo in the respiratory chain of a variety of human cell types
-
Villani, G., Greco, M., Papa, S. and Attardi, G. (1998) Low reserve of cytochrome c oxidase in vivo in the respiratory chain of a variety of human cell types. J. Biol. Chem. 273, 31829-31836
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 31829-31836
-
-
Villani, G.1
Greco, M.2
Papa, S.3
Attardi, G.4
-
61
-
-
0029790507
-
Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations
-
James, A., Wei, Y., Pang, C. and Murphy, M. (1996) Altered mitochondrial function in fibroblasts containing MELAS or MERRF mitochondrial DNA mutations. Biochem. J. 318, 401-407
-
(1996)
Biochem. J.
, vol.318
, pp. 401-407
-
-
James, A.1
Wei, Y.2
Pang, C.3
Murphy, M.4
-
62
-
-
0033522924
-
Titrating the effects of mitochondrial Complex I impairment in the cell physiology
-
Barrientos, A. and Moraes, T. (1999) Titrating the effects of mitochondrial Complex I impairment in the cell physiology. J. Biol. Chem. 274, 16188-16197
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 16188-16197
-
-
Barrientos, A.1
Moraes, T.2
-
63
-
-
0012886194
-
The biochemical expression of the 3460/ND1 leber's hereditary optic neuropathy mtDNA mutation is tissue specific. An in vivo phosphorus MR spectroscopy study of one pedigree
-
Venice, Italy, 19-23 September 2001, abstr. book
-
Lodi, R., Carelli, V., Lotti, S., Valentino, L., Barboni, P., Palloti, F., Montagna, P. and Barbiroli, B. (2001) The biochemical expression of the 3460/ND1 leber's hereditary optic neuropathy mtDNA mutation is tissue specific. An in vivo phosphorus MR spectroscopy study of one pedigree. In The Fifth European Meeting on Mitochondrial Pathology, Venice, Italy, 19-23 September 2001, abstr. book, p. 194
-
(2001)
The Fifth European Meeting on Mitochondrial Pathology
, pp. 194
-
-
Lodi, R.1
Carelli, V.2
Lotti, S.3
Valentino, L.4
Barboni, P.5
Palloti, F.6
Montagna, P.7
Barbiroli, B.8
-
64
-
-
0012793421
-
-
Reference deleted
-
Reference deleted
-
-
-
-
65
-
-
0032052209
-
Mitochondrial oxygen affinity, respiratory flux control and excess capacity of cytochrome c oxidase
-
Gnaiger, E., Lassnig, B., Kuznetsov, A., Rieger, G. and Margreiter, R. (1998) Mitochondrial oxygen affinity, respiratory flux control and excess capacity of cytochrome c oxidase. J. Exp. Biol. 201, 1129-1139
-
(1998)
J. Exp. Biol.
, vol.201
, pp. 1129-1139
-
-
Gnaiger, E.1
Lassnig, B.2
Kuznetsov, A.3
Rieger, G.4
Margreiter, R.5
-
66
-
-
0034623157
-
Flux control of cytochrome c oxidase in human skeletal muscle
-
Kunz, W., Kudin, A., Vielhaber, S., Elger, C., Attardi, G. and Viilani, G. (2000) Flux control of cytochrome c oxidase in human skeletal muscle. J. Biol. Chem. 275, 27741-27745
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 27741-27745
-
-
Kunz, W.1
Kudin, A.2
Vielhaber, S.3
Elger, C.4
Attardi, G.5
Viilani, G.6
-
67
-
-
0032559399
-
Oxygen dependence of flux control of cytochrome c oxidase; implications for mitochondrial diseases
-
Wiedemann, F. R. and Kunz, W. S. (1998) Oxygen dependence of flux control of cytochrome c oxidase; implications for mitochondrial diseases. FEBS Lett. 422, 33-35
-
(1998)
FEBS Lett.
, vol.422
, pp. 33-35
-
-
Wiedemann, F.R.1
Kunz, W.S.2
-
68
-
-
0037325411
-
Active/de-active transition of NADH:ubiquinone oxidoreductase (Complex I) in the mitochondrial membrane of Neurospora crassa
-
Grivennikova, V. G., Serebryanaya, D. V., Isakova, E. P., Belozerskaya, T. A. and Vinogradov, A. D. (2003) Active/de-active transition of NADH:ubiquinone oxidoreductase (Complex I) in the mitochondrial membrane of Neurospora crassa. Biochem. J. 369, 619-626
-
(2003)
Biochem. J.
, vol.369
, pp. 619-626
-
-
Grivennikova, V.G.1
Serebryanaya, D.V.2
Isakova, E.P.3
Belozerskaya, T.A.4
Vinogradov, A.D.5
-
69
-
-
0035937792
-
Catalytic activity of NADH-ubiquinone oxidoreductase (complex I) in intact mitochondria. Evidence for the slow active/inactive transition
-
Grivennikova, V. G., Kapustin, A. N. and Vinogradov, A. D. (2001) Catalytic activity of NADH-ubiquinone oxidoreductase (complex I) in intact mitochondria. Evidence for the slow active/inactive transition. J. Biol. Chem. 276, 9038-9044
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 9038-9044
-
-
Grivennikova, V.G.1
Kapustin, A.N.2
Vinogradov, A.D.3
-
70
-
-
0037124043
-
A novel, enzymatically active conformation of the Escherichia coli NADH:ubiquinone oxidoreductase (Complex I)
-
Bottcher, B., Scheide, D., Hesterberg, M., Nagel-Steger, L. and Friedrich, T. (2002) A novel, enzymatically active conformation of the Escherichia coli NADH:ubiquinone oxidoreductase (Complex I). J. Biol. Chem. 277, 17970-17977
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 17970-17977
-
-
Bottcher, B.1
Scheide, D.2
Hesterberg, M.3
Nagel-Steger, L.4
Friedrich, T.5
-
71
-
-
0038230469
-
Supercomplexes in the respiratory chains of yeast and mammalian mitochondria
-
Schägger, H. and Pfeiffer, K. (2000) Supercomplexes in the respiratory chains of yeast and mammalian mitochondria. EMBO J. 19, 1777-1783
-
(2000)
EMBO J.
, vol.19
, pp. 1777-1783
-
-
Schägger, H.1
Pfeiffer, K.2
-
72
-
-
0035222647
-
Blue-native gels to isolate protein complexes from mitochondria
-
Schagger, H. (2001) Blue-native gels to isolate protein complexes from mitochondria. Methods Cell Biol. 65, 231-244
-
(2001)
Methods Cell Biol.
, vol.65
, pp. 231-244
-
-
Schagger, H.1
-
73
-
-
0028869597
-
Human diseases with defects in oxidative phosphorylation 2. F1-F0 ATP-synthase defects in Alzheimer disease revealed by blue native polyacrylamide gel electrophoresis
-
Schägger, H. and Ohm, T. (1995) Human diseases with defects in oxidative phosphorylation 2. F1-F0 ATP-synthase defects in Alzheimer disease revealed by blue native polyacrylamide gel electrophoresis. Eur. J. Biochem. 227, 916-921
-
(1995)
Eur. J. Biochem.
, vol.227
, pp. 916-921
-
-
Schägger, H.1
Ohm, T.2
-
74
-
-
0037113864
-
Gluing the respiratory chain together. Cardiolipin is required for supercomplex formation in the inner mitochondrial membrane
-
Zhang, M., Mileykovskaya, E. and Dowhan, W. (2002) Gluing the respiratory chain together. Cardiolipin is required for supercomplex formation in the inner mitochondrial membrane. J. Biol. Chem. 277, 43553-43556
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 43553-43556
-
-
Zhang, M.1
Mileykovskaya, E.2
Dowhan, W.3
-
75
-
-
0035253099
-
A mitochondrial perspective on cell death
-
Bernardi, P., Petronilli, V., Di Lisa, F. and Forte, M. (2001) A mitochondrial perspective on cell death. Trends Biochem. Sci. 26, 112-117
-
(2001)
Trends Biochem. Sci.
, vol.26
, pp. 112-117
-
-
Bernardi, P.1
Petronilli, V.2
Di Lisa, F.3
Forte, M.4
-
76
-
-
0036470775
-
The ATP synthase is involved in generating mitochondrial cristae morphology
-
Paumard, P., Vaillier, J., Coulary, B., Schaeffer, J., Soubannier, V., Muerler, D. M., Brethes, D., di Rago, J. P. and Velours, J. (2002) The ATP synthase is involved in generating mitochondrial cristae morphology. EMBO J. 21, 221-230
-
(2002)
EMBO J.
, vol.21
, pp. 221-230
-
-
Paumard, P.1
Vaillier, J.2
Coulary, B.3
Schaeffer, J.4
Soubannier, V.5
Muerler, D.M.6
Brethes, D.7
Di Rago, J.P.8
Velours, J.9
-
77
-
-
0036173161
-
The NADH:ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade
-
Papa, S., Sardanelli, A. M., Scacco, S., Petruzzella, V., Technikova-Dobrova, Z., Vergari, R. and Signorile, A. (2002) The NADH:ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade. J. Bioenerg. Biomembr. 34, 1-10
-
(2002)
J. Bioenerg. Biomembr.
, vol.34
, pp. 1-10
-
-
Papa, S.1
Sardanelli, A.M.2
Scacco, S.3
Petruzzella, V.4
Technikova-Dobrova, Z.5
Vergari, R.6
Signorile, A.7
-
78
-
-
0343714594
-
Mitochondrial energy metabolism is regulated via nuclear-coded subunits of cytochrome c oxidase
-
Kadenbach, B., Huttemann, M., Arnold, S., Lee, I. and Bender, E. (2000) Mitochondrial energy metabolism is regulated via nuclear-coded subunits of cytochrome c oxidase. Free Radical Biol. Med. 29, 211-221
-
(2000)
Free Radical Biol. Med.
, vol.29
, pp. 211-221
-
-
Kadenbach, B.1
Huttemann, M.2
Arnold, S.3
Lee, I.4
Bender, E.5
-
79
-
-
0036137785
-
Regulation of cytochrome c oxidase by adenylic nucleotides. Is oxidative phosphorylation teedback regulated by its end-products?
-
Beauvoit, B. and Rigoulet, M. (2001) Regulation of cytochrome c oxidase by adenylic nucleotides. Is oxidative phosphorylation teedback regulated by its end-products? IUBMB Life 52, 143-152
-
(2001)
IUBMB Life
, vol.52
, pp. 143-152
-
-
Beauvoit, B.1
Rigoulet, M.2
-
80
-
-
18644364006
-
Detection and interpretation of redox potential optima in the catalytic activity of enzymes
-
Elliott, S. J., Leger, C., Pershad, H. R., Hirst, J., Heffron, K., Ginet, N., Blasco, F., Rothery, R. A., Weiner, J. H. and Armstrong, F. A. (2002) Detection and interpretation of redox potential optima in the catalytic activity of enzymes. Biochim. Biophys. Acta 1555, 54-59
-
(2002)
Biochim. Biophys. Acta
, vol.1555
, pp. 54-59
-
-
Elliott, S.J.1
Leger, C.2
Pershad, H.R.3
Hirst, J.4
Heffron, K.5
Ginet, N.6
Blasco, F.7
Rothery, R.A.8
Weiner, J.H.9
Armstrong, F.A.10
-
81
-
-
0035797117
-
Mitochondrial contributions to cancer cell physiology: Potential for drug development
-
Preston, T. J., Abadi, A., Wilson, L. and Singh, G. (2001) Mitochondrial contributions to cancer cell physiology: potential for drug development. Adv. Drug Delivery Rev. 49, 45-61
-
(2001)
Adv. Drug Delivery Rev.
, vol.49
, pp. 45-61
-
-
Preston, T.J.1
Abadi, A.2
Wilson, L.3
Singh, G.4
-
82
-
-
0034306267
-
Mitochondria, oxygen free radicals, disease and ageing
-
Raha, S. and Robinson, B. H. (2000) Mitochondria, oxygen free radicals, disease and ageing. Trends Biochem. Sci. 25, 502-508
-
(2000)
Trends Biochem. Sci.
, vol.25
, pp. 502-508
-
-
Raha, S.1
Robinson, B.H.2
-
83
-
-
0036830469
-
Regulation of gene expression by oxygen: NF-kappaB and HIF-1, two extremes
-
Michiels, C., Minet, E., Mottet, D. and Raes, M. (2002) Regulation of gene expression by oxygen: NF-kappaB and HIF-1, two extremes. Free Radical Biol. Med. 33, 1231-1242
-
(2002)
Free Radical Biol. Med.
, vol.33
, pp. 1231-1242
-
-
Michiels, C.1
Minet, E.2
Mottet, D.3
Raes, M.4
-
84
-
-
0035425348
-
Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: Implications for mitochondrial diseases
-
Korzeniewski, B., Malgat, M., Letellier, T. and Mazat, J. P. (2001) Effect of 'binary mitochondrial heteroplasmy' on respiration and ATP synthesis: implications for mitochondrial diseases. Biochem. J. 357, 835-842
-
(2001)
Biochem. J.
, vol.357
, pp. 835-842
-
-
Korzeniewski, B.1
Malgat, M.2
Letellier, T.3
Mazat, J.P.4
-
85
-
-
0037085019
-
Control of oxidative phosphorylation by complex I in rat liver mitochondria: Implication for aging
-
Ventura, B., Genova, M., Bovina, C., Formiggini, G. and Lenaz, G. (2002) Control of oxidative phosphorylation by complex I in rat liver mitochondria: implication for aging. Biochim. Biophys. Acta 1553, 249-260
-
(2002)
Biochim. Biophys. Acta
, vol.1553
, pp. 249-260
-
-
Ventura, B.1
Genova, M.2
Bovina, C.3
Formiggini, G.4
Lenaz, G.5
-
86
-
-
0030765109
-
Metabolic control analysis and threshold effect in oxidative phosphorylation: Implication for mitochondrial pathologies
-
Mazat, J. P., Letellier, T., Rossignol, R., Malgat, M., Korzeniewski, B., Jouaville, L. S. and Morkuniene, R. (1997) Metabolic control analysis and threshold effect in oxidative phosphorylation: implication for mitochondrial pathologies. Mol. Cell. Biochem. 174, 143-148
-
(1997)
Mol. Cell. Biochem.
, vol.174
, pp. 143-148
-
-
Mazat, J.P.1
Letellier, T.2
Rossignol, R.3
Malgat, M.4
Korzeniewski, B.5
Jouaville, L.S.6
Morkuniene, R.7
-
87
-
-
0035797120
-
An antigenomic strategy for treating heteroplasmic mtDNA disorders
-
Taylor, R. W., Wardell, T. M., Smith, P. M., Muratovska, A., Murphy, M. P., Turnbull, D. M. and Lightowlers, R. N. (2001) An antigenomic strategy for treating heteroplasmic mtDNA disorders. Adv. Drug Delivery Rev. 49, 121-125
-
(2001)
Adv. Drug Delivery Rev.
, vol.49
, pp. 121-125
-
-
Taylor, R.W.1
Wardell, T.M.2
Smith, P.M.3
Muratovska, A.4
Murphy, M.P.5
Turnbull, D.M.6
Lightowlers, R.N.7
-
88
-
-
0030070924
-
Relationship of genotype to phenotype in fibrobrast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: Shift towards mutant genotype and role of mtDNA copy number
-
Bentlage, H. A. C. M. and Attardi, G. (1996) Relationship of genotype to phenotype in fibrobrast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. Hum. Mol. Genet. 5, 197-205
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 197-205
-
-
Bentlage, H.A.C.M.1
Attardi, G.2
-
89
-
-
0017841405
-
Tumor mitochondria and the bioenergetic of cancer cells
-
Pedersen, P. (1978) Tumor mitochondria and the bioenergetic of cancer cells. Prog. Exp. Tumor Res. 22, 190-274
-
(1978)
Prog. Exp. Tumor Res.
, vol.22
, pp. 190-274
-
-
Pedersen, P.1
-
90
-
-
15844414869
-
Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy
-
Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G. and Chomyn, A. (1996) Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J. Biol. Chem. 271, 13155-13161
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 13155-13161
-
-
Hofhaus, G.1
Johns, D.R.2
Hurko, O.3
Attardi, G.4
Chomyn, A.5
-
91
-
-
0035917865
-
Cooperation and competition in the evolution of ATP-producing pathways
-
Pfeiffer, T., Schuster, S. and Bonhoeffer, S. (2001) Cooperation and competition in the evolution of ATP-producing pathways. Science 292, 504-507
-
(2001)
Science
, vol.292
, pp. 504-507
-
-
Pfeiffer, T.1
Schuster, S.2
Bonhoeffer, S.3
-
92
-
-
0020424165
-
Regulation of cellular energy metabolism
-
Erecinska, M. and Wilson, D. F. (1982) Regulation of cellular energy metabolism. J. Membr. Biol. 70, 1-14
-
(1982)
J. Membr. Biol.
, vol.70
, pp. 1-14
-
-
Erecinska, M.1
Wilson, D.F.2
-
93
-
-
0035283048
-
Theoretical studies on the regulation of oxidative phosphorylation in intact tissues
-
Korzeniewski, B. (2001) Theoretical studies on the regulation of oxidative phosphorylation in intact tissues. Biochim. Biophys. Acta 1504, 31-45
-
(2001)
Biochim. Biophys. Acta
, vol.1504
, pp. 31-45
-
-
Korzeniewski, B.1
-
94
-
-
0035382613
-
Cytochrome c oxidase and the regulation of oxidative phosphorylation
-
Ludwig, B., Bender, E., Arnold, S. Huttemann, M., Lee, I. and Kadenbach, B. (2001) Cytochrome c oxidase and the regulation of oxidative phosphorylation. Chembiochem. 2, 392-403
-
(2001)
Chembiochem.
, vol.2
, pp. 392-403
-
-
Ludwig, B.1
Bender, E.2
Arnold, S.3
Huttemann, M.4
Lee, I.5
Kadenbach, B.6
-
95
-
-
0036136535
-
Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy
-
Taivassalo, T., Abbott, A., Wyrick, P. and Haller, R. G. (2002) Venous oxygen levels during aerobic forearm exercise: an index of impaired oxidative metabolism in mitochondrial myopathy. Ann. Neurol. 51, 38-44
-
(2002)
Ann. Neurol.
, vol.51
, pp. 38-44
-
-
Taivassalo, T.1
Abbott, A.2
Wyrick, P.3
Haller, R.G.4
-
96
-
-
0012858669
-
Assessing oxidative phosphorylation in mitochondrial myopathy
-
in partnership with the University of Texas Southwestern Medical Center at Dallas, June 6-9, 2002, Dallas
-
Haller, R. G. (2002) Assessing oxidative phosphorylation in mitochondrial myopathy. In The United Mitochondrial Disease Foundation: Mito-Dallas Symposium in partnership with the University of Texas Southwestern Medical Center at Dallas, June 6-9, 2002, Dallas
-
(2002)
The United Mitochondrial Disease Foundation: Mito-Dallas Symposium
, pp. 6-9
-
-
Haller, R.G.1
-
97
-
-
0030060683
-
Ragged red or ragged blue fibers
-
Reichmann, H., Vogler, L. and Seibel, P. (1996) Ragged red or ragged blue fibers. Eur. Neurol. 36, 98-102
-
(1996)
Eur. Neurol.
, vol.36
, pp. 98-102
-
-
Reichmann, H.1
Vogler, L.2
Seibel, P.3
-
98
-
-
0037069398
-
Increased mitochondrial mass in mitochondrial myopathy mice
-
Wredenberg, A., Wibom, R., Wilhelmsson, H., Graff, C., Wiener, H. H., Burden, S. J., Oldtors, A., Westerblad, H. and Larsson, N. G. (2002) Increased mitochondrial mass in mitochondrial myopathy mice. Proc. Natl. Acad. Sci. U.S.A. 99, 15066-15071
-
(2002)
Proc. Natl. Acad. Sci. U.S.A.
, vol.99
, pp. 15066-15071
-
-
Wredenberg, A.1
Wibom, R.2
Wilhelmsson, H.3
Graff, C.4
Wiener, H.H.5
Burden, S.J.6
Oldtors, A.7
Westerblad, H.8
Larsson, N.G.9
-
99
-
-
0036142565
-
Glucocorticoid hormone stimulates mitochondrial biogenesis specifically in skeletal muscle
-
Weber, K., Bruck, P., Mikes, Z., Kupper, J. H., Klingenspor, M. and Wiesner, R. J. (2002) Glucocorticoid hormone stimulates mitochondrial biogenesis specifically in skeletal muscle. Endocrinology 143, 177-184
-
(2002)
Endocrinology
, vol.143
, pp. 177-184
-
-
Weber, K.1
Bruck, P.2
Mikes, Z.3
Kupper, J.H.4
Klingenspor, M.5
Wiesner, R.J.6
-
100
-
-
0033551701
-
Coordinate induction of energy gene expression in tissues of mitochondrial disease patients
-
Heddi, A., Stepien, G., Benke, P. J. and Wallace, D. C. (1999) Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. J. Biol. Chem. 274, 22968-22976
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 22968-22976
-
-
Heddi, A.1
Stepien, G.2
Benke, P.J.3
Wallace, D.C.4
-
101
-
-
0026730817
-
Transcriptional control of nuclear genes for the mitochondrial muscre ADP/ATP translocator and the ATP synthase beta subunit. Multiple factors interact with the OXBOX/REBOX promoter sequences
-
Chung, A. B., Stepien, G., Haraguchi, Y., Li, K. and Wallace, D. C. (1992) Transcriptional control of nuclear genes for the mitochondrial muscre ADP/ATP translocator and the ATP synthase beta subunit. Multiple factors interact with the OXBOX/REBOX promoter sequences. J. Biol. Chem. 267, 21154-21161
-
(1992)
J. Biol. Chem.
, vol.267
, pp. 21154-21161
-
-
Chung, A.B.1
Stepien, G.2
Haraguchi, Y.3
Li, K.4
Wallace, D.C.5
-
102
-
-
0036118922
-
Transcriptional activation of energy metabolic switches in the developing and hypertrophied heart
-
Lehman, J. J. and Kelly, D. P. (2002) Transcriptional activation of energy metabolic switches in the developing and hypertrophied heart. Clin. Exp. Pharmacol. Physiol. 29, 339-345
-
(2002)
Clin. Exp. Pharmacol. Physiol.
, vol.29
, pp. 339-345
-
-
Lehman, J.J.1
Kelly, D.P.2
-
103
-
-
0037169836
-
CCAAT/enhancer binding proteins: Do they possess intrinsic cAMP-inducible activity?
-
Wilson, H. L. and Roesler, W. J. (2002) CCAAT/enhancer binding proteins: do they possess intrinsic cAMP-inducible activity? Mol. Cell. Endocrinol. 188, 15-20
-
(2002)
Mol. Cell. Endocrinol.
, vol.188
, pp. 15-20
-
-
Wilson, H.L.1
Roesler, W.J.2
-
104
-
-
0033850538
-
Mechanisms for ATP-dependent chromatin remodelling
-
Whitehouse, I., Flaus, A., Havas, K. and Owen-Hughes, T. (2000) Mechanisms for ATP-dependent chromatin remodelling. Biochem. Soc. Trans. 28, 376-379
-
(2000)
Biochem. Soc. Trans.
, vol.28
, pp. 376-379
-
-
Whitehouse, I.1
Flaus, A.2
Havas, K.3
Owen-Hughes, T.4
-
105
-
-
0036213162
-
REDOX regulation of early embryo development
-
Harvey, A. J., Kind, K. L. and Thompson, J. G. (2002) REDOX regulation of early embryo development. Reproduction 123, 479-486
-
(2002)
Reproduction
, vol.123
, pp. 479-486
-
-
Harvey, A.J.1
Kind, K.L.2
Thompson, J.G.3
-
106
-
-
0035163169
-
Mechanism of thyroid-hormone regulated expression of the SERCA genes in skeletal muscle: Implications for thermogenesis
-
Simonides, W. S., Thelen, M. H., van der Linden, C. G., Muller, A. and van Hardeveld, C. (2001) Mechanism of thyroid-hormone regulated expression of the SERCA genes in skeletal muscle: implications for thermogenesis. Biosci. Rep. 21, 139-154
-
(2001)
Biosci. Rep.
, vol.21
, pp. 139-154
-
-
Simonides, W.S.1
Thelen, M.H.2
Van Der Linden, C.G.3
Muller, A.4
Van Hardeveld, C.5
-
107
-
-
0034943544
-
The role of C/EBP in nutrient and hormonal regulation of gene expression
-
Roesler, W. J. (2001) The role of C/EBP in nutrient and hormonal regulation of gene expression. Annu. Rev. Nutr. 21, 141-165
-
(2001)
Annu. Rev. Nutr.
, vol.21
, pp. 141-165
-
-
Roesler, W.J.1
-
108
-
-
0029060046
-
The role of thyroid hormone and promoter diversity in the regulation of nuclear encoded mitochondrial proteins
-
Nelson, B. D., Luciakova, K., Li, R. and Betina, S (1995) The role of thyroid hormone and promoter diversity in the regulation of nuclear encoded mitochondrial proteins. Biochim. Biophys. Acta 1271, 85-91
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 85-91
-
-
Nelson, B.D.1
Luciakova, K.2
Li, R.3
Betina, S.4
-
109
-
-
0019869334
-
The molecular basis of dominance
-
Kacser, H. and Burns, J. A. (1980) The molecular basis of dominance. Genetics 97, 639-666
-
(1980)
Genetics
, vol.97
, pp. 639-666
-
-
Kacser, H.1
Burns, J.A.2
-
110
-
-
0034938453
-
Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondria
-
Ono, T., Isobe, K., Nakada, K. and Hayashi, J. I. (2001) Human cells are protected from mitochondrial dysfunction by complementation of DNA products in fused mitochondria. Nat. Genet. 28, 272-275
-
(2001)
Nat. Genet.
, vol.28
, pp. 272-275
-
-
Ono, T.1
Isobe, K.2
Nakada, K.3
Hayashi, J.I.4
-
111
-
-
0036544879
-
Inter-mitochondrial complementation of mtDNA mutations and nuclear context
-
Attardi, G., Enriquez, J. A. and Cabezas-Herrera, J. (2002) Inter-mitochondrial complementation of mtDNA mutations and nuclear context. Nat. Genet. 30, 360
-
(2002)
Nat. Genet.
, vol.30
, pp. 360
-
-
Attardi, G.1
Enriquez, J.A.2
Cabezas-Herrera, J.3
-
112
-
-
0012887965
-
Reply to 'Inter-mitochondrial complementation of mtDNA mutations and nuclear context'
-
Hayashi, J., Nakada, K. and Ono, T. (2002) Reply to 'Inter-mitochondrial complementation of mtDNA mutations and nuclear context'. Nat. Genet. 30, 361
-
(2002)
Nat. Genet.
, vol.30
, pp. 361
-
-
Hayashi, J.1
Nakada, K.2
Ono, T.3
-
113
-
-
0034646656
-
Very rare complementation between mitochondria carrying different mitochondrial DNA mutations points to intrinsic genetic autonomy of the organelles in cultured human cells
-
Enriquez, J. A., Cabezas-Herrera, J., Bayona-Bafaluy, M. P. and Attardi, G. (2000) Very rare complementation between mitochondria carrying different mitochondrial DNA mutations points to intrinsic genetic autonomy of the organelles in cultured human cells. J. Biol. Chem. 275, 11207-11215
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 11207-11215
-
-
Enriquez, J.A.1
Cabezas-Herrera, J.2
Bayona-Bafaluy, M.P.3
Attardi, G.4
-
114
-
-
0034881326
-
Inter-mitochondrial complementation: Mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA
-
Nakada, K., Inoue, K., Ono, T., Isobe, K., Ogura, A., Goto, Y. I., Nonaka, I. and Hayashi, J. I. (2001) Inter-mitochondrial complementation: mitochondria-specific system preventing mice from expression of disease phenotypes by mutant mtDNA. Nat. Med. (N.Y.) 7, 934-940
-
(2001)
Nat. Med. (N.Y.)
, vol.7
, pp. 934-940
-
-
Nakada, K.1
Inoue, K.2
Ono, T.3
Isobe, K.4
Ogura, A.5
Goto, Y.I.6
Nonaka, I.7
Hayashi, J.I.8
-
115
-
-
0034235229
-
The internal structure of mitochondria
-
Frey, T. and Manella, C. (2000) The internal structure of mitochondria. Trends Biochem. Sci. 25, 319-324
-
(2000)
Trends Biochem. Sci.
, vol.25
, pp. 319-324
-
-
Frey, T.1
Manella, C.2
-
116
-
-
0024328462
-
Mitochondrial DNA deletion in progressive ophtalmomplegia and Keams-Sayre syndrome
-
Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A. F. and Nakase, H. (1989) Mitochondrial DNA deletion in progressive ophtalmomplegia and Keams-Sayre syndrome. N. Engl. J. Med. 320, 1293-1299
-
(1989)
N. Engl. J. Med.
, vol.320
, pp. 1293-1299
-
-
Moraes, C.T.1
DiMauro, S.2
Zeviani, M.3
Lombes, A.4
Shanske, S.5
Miranda, A.F.6
Nakase, H.7
-
117
-
-
0027327280
-
Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures
-
Bourgeron, T., Chretien, D., Rotig, A., Munnich, A. and Rustin, P. (1993) Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures. J. Biol. Chem. 268, 19369-19376
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 19369-19376
-
-
Bourgeron, T.1
Chretien, D.2
Rotig, A.3
Munnich, A.4
Rustin, P.5
-
118
-
-
0027771294
-
Expression of respiratory chain deficiencies in human cultured cells
-
Bourgeron, T., Chretien, D., Amati, P., Rotig, A., Munnich, A. and Rustin, P. (1993) Expression of respiratory chain deficiencies in human cultured cells. Neuromuscular Disord. 3, 605-608
-
(1993)
Neuromuscular Disord.
, vol.3
, pp. 605-608
-
-
Bourgeron, T.1
Chretien, D.2
Amati, P.3
Rotig, A.4
Munnich, A.5
Rustin, P.6
-
119
-
-
0033772366
-
Quantitative analysis, by ultrastructural in situ hybridization, of mitochondrial genomes and their expression in mid-gut and ovarian cells of a mutant strain of Drosophila subobscura
-
Lecher, P., Petit, N., Le Goff, S. and Alziari, S. (2000) Quantitative analysis, by ultrastructural in situ hybridization, of mitochondrial genomes and their expression in mid-gut and ovarian cells of a mutant strain of Drosophila subobscura. Biol. Cell 92, 341-350
-
(2000)
Biol. Cell
, vol.92
, pp. 341-350
-
-
Lecher, P.1
Petit, N.2
Le Goff, S.3
Alziari, S.4
-
120
-
-
0028140454
-
Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy
-
Sciacco, M., Bonilla, E., Schon, E., DiMauro, S. and Moraes, C. (1994) Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum. Mol. Genet. 3, 13-19
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 13-19
-
-
Sciacco, M.1
Bonilla, E.2
Schon, E.3
DiMauro, S.4
Moraes, C.5
-
121
-
-
7344241008
-
Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion
-
Porteous, W. K., James, A. M., Sheard, P. W., Porteous, C. M., Packer, M. A., Hyslop, S. J., Melton, J. V., Pang, C. Y., Wei, Y. H. and Murphy, M. P. (1998) Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur. J. Biochem. 257, 192-201
-
(1998)
Eur. J. Biochem.
, vol.257
, pp. 192-201
-
-
Porteous, W.K.1
James, A.M.2
Sheard, P.W.3
Porteous, C.M.4
Packer, M.A.5
Hyslop, S.J.6
Melton, J.V.7
Pang, C.Y.8
Wei, Y.H.9
Murphy, M.P.10
-
122
-
-
0033957088
-
Muscle fibres: Applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle
-
Vielhaber, S., Kudin, A., Schroder, R., Elger, C. E. and Kunz, W. S. (2000) Muscle fibres: applications for the study of the metabolic consequences of enzyme deficiencies in skeletal muscle. Biochem. Soc. Trans. 28, 159-164
-
(2000)
Biochem. Soc. Trans.
, vol.28
, pp. 159-164
-
-
Vielhaber, S.1
Kudin, A.2
Schroder, R.3
Elger, C.E.4
Kunz, W.S.5
-
123
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1988) Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. Nature (London) 331, 717-719
-
(1988)
Nature (London)
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
124
-
-
0025968499
-
In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
-
Chomyn, A., Meloa, G., Bresolin, N., Lai, S., Scarlato, G. and Attardi, G. (1991) In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria. Mol. Cell. Biochem. 11, 2236-2244
-
(1991)
Mol. Cell. Biochem.
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meloa, G.2
Bresolin, N.3
Lai, S.4
Scarlato, G.5
Attardi, G.6
-
125
-
-
0028348251
-
Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles
-
Yoneda, M., Miyatake, T. and Attardi, G. (1994) Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles. Mol. Cell. Biochem. 14, 2699-2712
-
(1994)
Mol. Cell. Biochem.
, vol.14
, pp. 2699-2712
-
-
Yoneda, M.1
Miyatake, T.2
Attardi, G.3
-
126
-
-
0029009729
-
Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: Relationship to proportion of mutant mitochondrial DNA
-
Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A. and Harding, A. E. (1995) Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A → G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA. J. Neurol. Sci. 130, 154-160
-
(1995)
J. Neurol. Sci.
, vol.130
, pp. 154-160
-
-
Hanna, M.G.1
Nelson, I.P.2
Morgan-Hughes, J.A.3
Harding, A.E.4
-
127
-
-
0026608057
-
MELAS mutation in mtDNA site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts
-
Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S. T., Nonaka, I., Angelini, C. and Attardi, G. (1992) MELAS mutation in mtDNA site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. Proc. Natl. Acad. Sci. U.S.A. 89, 4221-4225
-
(1992)
Proc. Natl. Acad. Sci. U.S.A.
, vol.89
, pp. 4221-4225
-
-
Chomyn, A.1
Martinuzzi, A.2
Yoneda, M.3
Daga, A.4
Hurko, O.5
Johns, D.6
Lai, S.T.7
Nonaka, I.8
Angelini, C.9
Attardi, G.10
-
128
-
-
0026718556
-
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): Genetic, biochemical, and morphological correlations in skeletal muscle
-
Moraes, C., Ricci, E., Bonilla, E., DiMauro, S. and Schon, E. (1992) The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. A. J. Hum. Genet. 50, 934-949
-
(1992)
A. J. Hum. Genet.
, vol.50
, pp. 934-949
-
-
Moraes, C.1
Ricci, E.2
Bonilla, E.3
DiMauro, S.4
Schon, E.5
-
129
-
-
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., Miyabayashi, S., Sakuta, R., Goto, Y. and Nonaka, I. (1993) 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. 197, 1049-1055
-
(1993)
Biochem. Biophys. Res. Commun.
, vol.197
, pp. 1049-1055
-
-
Hayashi, J.1
Ohta, S.2
Takai, D.3
Miyabayashi, S.4
Sakuta, R.5
Goto, Y.6
Nonaka, I.7
-
130
-
-
0028272494
-
Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation
-
De Vries, D., De Wijs, I., Ruitenbeek, W., Begeer, J., Smit, P., Bentlage, H. and Van Oost, B. (1994) Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. J. Neurol. Sci. 124, 77-82
-
(1994)
J. Neurol. Sci.
, vol.124
, pp. 77-82
-
-
De Vries, D.1
De Wijs, I.2
Ruitenbeek, W.3
Begeer, J.4
Smit, P.5
Bentlage, H.6
Van Oost, B.7
-
131
-
-
0029088475
-
Intracellular heteroplasmy for disease-associated point mutations in mtDNA: Implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA
-
Matthews, P., Brown, R., Morten, K., Marchington, D., Poulton, J. and Brown, G. (1995) Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA. Hum. Genet. 96, 261-268
-
(1995)
Hum. Genet.
, vol.96
, pp. 261-268
-
-
Matthews, P.1
Brown, R.2
Morten, K.3
Marchington, D.4
Poulton, J.5
Brown, G.6
-
132
-
-
0029032410
-
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
-
Mariotti, C., Savarese, N., Suomalainen, A., Rimoldi, A., Comi, G., Prelle, A., Antozzi, C., Servidei, S., Jarre, L., DiDonato, S. and Zeviani, M. (1995) Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA. J. Neurol. 242, 304-312
-
(1995)
J. Neurol.
, vol.242
, pp. 304-312
-
-
Mariotti, C.1
Savarese, N.2
Suomalainen, A.3
Rimoldi, A.4
Comi, G.5
Prelle, A.6
Antozzi, C.7
Servidei, S.8
Jarre, L.9
DiDonato, S.10
Zeviani, M.11
-
133
-
-
0031727452
-
MELAS: A new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity
-
Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A. and Wood, N. W. (1998) MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J. Neurol. Neurosurg. Psychiatry 65, 512-517
-
(1998)
J. Neurol. Neurosurg. Psychiatry
, vol.65
, pp. 512-517
-
-
Hanna, M.G.1
Nelson, I.P.2
Morgan-Hughes, J.A.3
Wood, N.W.4
-
134
-
-
0034010157
-
Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo
-
Chinnery, P. F., Taylor, D. J., Brown, D. T., Manners, D., Styles, P. and Lodi, R. (2000) Very low levels of the mtDNA A3243G mutation associated with mitochondrial dysfunction in vivo. Ann. Neurol. 47, 381-384
-
(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
-
135
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R. and Robinson, B. (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet. 50, 852-858
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
Clarke, J.4
Wherret, J.5
Smith, C.6
Rudd, N.7
Petrova-Benedict, R.8
Robinson, B.9
-
136
-
-
0030820191
-
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA
-
Campos, Y., Martin, M., Pharm, B., Rubio, J., Solana, L., Garcia-Benayas, C., Pharm, B., Terradas, J. and Arenas, J. (1997) Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA. Neurology 49, 595-597
-
(1997)
Neurology
, vol.49
, pp. 595-597
-
-
Campos, Y.1
Martin, M.2
Pharm, B.3
Rubio, J.4
Solana, L.5
Garcia-Benayas, C.6
Pharm, B.7
Terradas, J.8
Arenas, J.9
-
137
-
-
0031682732
-
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression
-
Guan, M. X., Enriquez, J. A., Fischel-Ghodsian, N., Puranam, R. S., Lin, C. P., Maw, M. A. and Attardi, G. (1998) The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. Mol. Cell. Biol. 18, 5868-5879
-
(1998)
Mol. Cell. Biol.
, vol.18
, pp. 5868-5879
-
-
Guan, M.X.1
Enriquez, J.A.2
Fischel-Ghodsian, N.3
Puranam, R.S.4
Lin, C.P.5
Maw, M.A.6
Attardi, G.7
-
138
-
-
0035869153
-
Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation
-
Guan, M. X., Fischel-Ghodsian, N. and Attardi, G. (2001) Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum. Mol. Genet. 10, 573-580
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 573-580
-
-
Guan, M.X.1
Fischel-Ghodsian, N.2
Attardi, G.3
-
139
-
-
0035931511
-
Leber hereditary optic neuropathy: Does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation?
-
Chinnery, P. F., Andrews, R. M., Turnbull, D. M. and Howell, N. N. (2001) Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am. J. Med. Genet. 98, 235-243
-
(2001)
Am. J. Med. Genet.
, vol.98
, pp. 235-243
-
-
Chinnery, P.F.1
Andrews, R.M.2
Turnbull, D.M.3
Howell, N.N.4
-
140
-
-
0012854919
-
-
Reference deleted
-
Reference deleted
-
-
-
-
141
-
-
0012840056
-
Oxidative phosphorylation in cell growth and death
-
Venice, Italy, 19-23 September 2001, abstr. book
-
Moraes, C., Srivastava, S., Cossio, J., Woischnick, M., Kwong, J. and Manfredi, G. (2001) Oxidative phosphorylation in cell growth and death. In The Fifth European Meeting on Mitochondrial Pathology, Venice, Italy, 19-23 September 2001, abstr. book, p. 19
-
(2001)
The Fifth European Meeting on Mitochondrial Pathology
, pp. 19
-
-
Moraes, C.1
Srivastava, S.2
Cossio, J.3
Woischnick, M.4
Kwong, J.5
Manfredi, G.6
-
142
-
-
0031467871
-
Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idopathic sideroblastic anemia
-
Gattermann, N., Retzlaff, S., Wang, Y.-L., Hofhaus, G., Heinisch, J., Aul, C. and Schneider, W. (1997) Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idopathic sideroblastic anemia. Blood 90, 4961-4972
-
(1997)
Blood
, vol.90
, pp. 4961-4972
-
-
Gattermann, N.1
Retzlaff, S.2
Wang, Y.-L.3
Hofhaus, G.4
Heinisch, J.5
Aul, C.6
Schneider, W.7
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