-
1
-
-
0025335849
-
Structure and assembly of cytochrome c oxidase
-
Capaldi, R. A. (1990) Structure and assembly of cytochrome c oxidase. Arch. Biochem. Biophys. 280, 252-262
-
(1990)
Arch. Biochem. Biophys.
, vol.280
, pp. 252-262
-
-
Capaldi, R.A.1
-
2
-
-
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
-
3
-
-
0025174702
-
Tissue- And species-specific expression of cytochrome c oxidase isozymes in vertebrates
-
Kadenbach, B., Stroh, A., Becker, A., Eckerskorn, C. and Lottspeich, F. (1990) Tissue- and species-specific expression of cytochrome c oxidase isozymes in vertebrates. Biochim. Biophys. Acta 1015, 368-372
-
(1990)
Biochim. Biophys. Acta
, vol.1015
, pp. 368-372
-
-
Kadenbach, B.1
Stroh, A.2
Becker, A.3
Eckerskorn, C.4
Lottspeich, F.5
-
4
-
-
0028864478
-
Species-specific expression of cytochrome c oxidase isozymes
-
Linder, D., Freund, R. and Kadenbach, B. (1995) Species-specific expression of cytochrome c oxidase isozymes. Comp. Biochem. Physiol. B 112, 461-469
-
(1995)
Comp. Biochem. Physiol. B
, vol.112
, pp. 461-469
-
-
Linder, D.1
Freund, R.2
Kadenbach, B.3
-
5
-
-
0029942862
-
The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 Å
-
Tsukihara, T., Aoyama, H., Yamashita, E., Tomizaki, T., Yamaguchi, H., Shinzawa-Itoh, K., Nakashima, R., Yaono, R. and Yoshikawa, S. (1996) The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 Å. Science 272, 1136-1144
-
(1996)
Science
, vol.272
, pp. 1136-1144
-
-
Tsukihara, T.1
Aoyama, H.2
Yamashita, E.3
Tomizaki, T.4
Yamaguchi, H.5
Shinzawa-Itoh, K.6
Nakashima, R.7
Yaono, R.8
Yoshikawa, S.9
-
6
-
-
0038518286
-
Assembly of cytochrome c oxidase within mitochondrion
-
Carr, H. S. and Winge, D. R. (2003) Assembly of cytochrome c oxidase within mitochondrion. Acc. Chem. Res. 36, 309-316
-
(2003)
Acc. Chem. Res.
, vol.36
, pp. 309-316
-
-
Carr, H.S.1
Winge, D.R.2
-
7
-
-
0037029074
-
Cytochrome oxidase in health and disease
-
Barrientos, A., Barros, M. H., Valnot, I., Rotig, A., Rustin, P. and Tzagoloff, A. (2002) Cytochrome oxidase in health and disease. Gene 286, 53-63
-
(2002)
Gene
, vol.286
, pp. 53-63
-
-
Barrientos, A.1
Barros, M.H.2
Valnot, I.3
Rotig, A.4
Rustin, P.5
Tzagoloff, A.6
-
8
-
-
0037458031
-
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
-
Mootha, V. K., Lepage, P., Miller, K., Bunkenborg, J., Reich, M., Hjerrild, M., Delmonte, T., Villeneuve, A., Sladek, R., Xu, F. et al. (2003) Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc. Natl. Acad. Sci. U.S.A. 100, 605-610
-
(2003)
Proc. Natl. Acad. Sci. U.S.A.
, vol.100
, pp. 605-610
-
-
Mootha, V.K.1
Lepage, P.2
Miller, K.3
Bunkenborg, J.4
Reich, M.5
Hjerrild, M.6
Delmonte, T.7
Villeneuve, A.8
Sladek, R.9
Xu, F.10
-
9
-
-
0032699506
-
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
-
Papadopoulou, L. C., Sue, C. M., Davidson, M. M., Tanji, K., Nishino, I., Sadlock, J. E., Krishna, S., Walker, W., Selby, J., Glerum, D. M. et al. (1999) Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Nat. Genet. 23, 333-337
-
(1999)
Nat. Genet.
, vol.23
, pp. 333-337
-
-
Papadopoulou, L.C.1
Sue, C.M.2
Davidson, M.M.3
Tanji, K.4
Nishino, I.5
Sadlock, J.E.6
Krishna, S.7
Walker, W.8
Selby, J.9
Glerum, D.M.10
-
10
-
-
0034701251
-
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
-
Jaksch, M., Ogilvie, I., Yao, J., Kortenhaus, G., Bresser, H. G., Gerbitz, K. D. and Shoubridge, E. A. (2000) Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency. Hum. Mol. Genet. 9, 795-801
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 795-801
-
-
Jaksch, M.1
Ogilvie, I.2
Yao, J.3
Kortenhaus, G.4
Bresser, H.G.5
Gerbitz, K.D.6
Shoubridge, E.A.7
-
11
-
-
0035894664
-
Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
-
Jaksch, M., Paret, C., Stucka, R., Horn, N., Muller-Hocker, J., Horvath, R., Trepesch, N., Stecker, G., Freisinger, P., Thirion, C. et al. (2001) Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum. Mol. Genet. 10, 3025-3035
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 3025-3035
-
-
Jaksch, M.1
Paret, C.2
Stucka, R.3
Horn, N.4
Muller-Hocker, J.5
Horvath, R.6
Trepesch, N.7
Stecker, G.8
Freisinger, P.9
Thirion, C.10
-
12
-
-
0032712588
-
Characterization of SURF-1 expression and Surf-1 p function in normal and disease conditions
-
Tiranti, V., Galimberti, C., Nijtmans, L., Bovolenta, S., Perini, M. P. and Zeviani, M. (1999) Characterization of SURF-1 expression and Surf-1 p function in normal and disease conditions. Hum. Mol. Genet. 8, 2533-2540
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2533-2540
-
-
Tiranti, V.1
Galimberti, C.2
Nijtmans, L.3
Bovolenta, S.4
Perini, M.P.5
Zeviani, M.6
-
13
-
-
0032760675
-
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency
-
Yao, J. and Shoubridge, E. A. (1999) Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum. Mol. Genet. 8, 2541-2549
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2541-2549
-
-
Yao, J.1
Shoubridge, E.A.2
-
14
-
-
1542290022
-
Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1
-
Williams, S. L., Valnot, I., Rustin, P. and Taanman, J. W. (2004) Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1. J. Biol. Chem. 279, 7462-7469
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 7462-7469
-
-
Williams, S.L.1
Valnot, I.2
Rustin, P.3
Taanman, J.W.4
-
15
-
-
0032104133
-
Assembly of cytochrome-c oxidase in cultured human cells
-
Nijtmans, L. G., Taanman, J. W., Muijsers, A. O., Speijer, D. and Van den Bogert, C. (1998) Assembly of cytochrome-c oxidase in cultured human cells. Eur. J. Biochem. 254, 389-394
-
(1998)
Eur. J. Biochem.
, vol.254
, pp. 389-394
-
-
Nijtmans, L.G.1
Taanman, J.W.2
Muijsers, A.O.3
Speijer, D.4
Van Den Bogert, C.5
-
16
-
-
17344362021
-
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
-
Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M. et al. (1998) SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome. Nat. Genet. 20, 337-343
-
(1998)
Nat. Genet.
, vol.20
, pp. 337-343
-
-
Zhu, Z.1
Yao, J.2
Johns, T.3
Fu, K.4
De Bie, I.5
Macmillan, C.6
Cuthbert, A.P.7
Newbold, R.F.8
Wang, J.9
Chevrette, M.10
-
17
-
-
0032470811
-
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency
-
Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Granatiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M. et al. (1998) Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 63, 1609-1621
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1609-1621
-
-
Tiranti, V.1
Hoertnagel, K.2
Carrozzo, R.3
Galimberti, C.4
Munaro, M.5
Granatiero, M.6
Zelante, L.7
Gasparini, P.8
Marzella, R.9
Rocchi, M.10
-
18
-
-
0035039888
-
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency
-
Pequignot, M. O., Dey, R., Zeviani, M., Tiranti, V., Godinot, C., Poyau, A., Sue, C., Di Mauro, S., Abitbol, M. and Marsac, C. (2001) Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome c oxidase deficiency. Hum. Mutat. 17, 374-381
-
(2001)
Hum. Mutat.
, vol.17
, pp. 374-381
-
-
Pequignot, M.O.1
Dey, R.2
Zeviani, M.3
Tiranti, V.4
Godinot, C.5
Poyau, A.6
Sue, C.7
Di Mauro, S.8
Abitbol, M.9
Marsac, C.10
-
19
-
-
0034015368
-
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2
-
Sue, C. M., Karadimas, C., Checcarelli, N., Tanji, K., Papadopoulou, L. C., Pallotti, F., Guo, F. L., Shanske, S., Hirano, M., De Vivo, D. C. et al (2000) Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2. Ann. Neurol. 47, 589-595
-
(2000)
Ann. Neurol.
, vol.47
, pp. 589-595
-
-
Sue, C.M.1
Karadimas, C.2
Checcarelli, N.3
Tanji, K.4
Papadopoulou, L.C.5
Pallotti, F.6
Guo, F.L.7
Shanske, S.8
Hirano, M.9
De Vivo, D.C.10
-
20
-
-
4644221272
-
Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene
-
Vesela, K., Hansikova, H., Tesarova, M., Martasek, P, Elleder, M., Houstek, J. and Zeman, J. (2004) Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene. Acta Paediatr. 93, 1312-1317
-
(2004)
Acta Paediatr.
, vol.93
, pp. 1312-1317
-
-
Vesela, K.1
Hansikova, H.2
Tesarova, M.3
Martasek, P.4
Elleder, M.5
Houstek, J.6
Zeman, J.7
-
21
-
-
0034840854
-
A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis
-
Williams, S. L., Taanman, J. W., Hansikova, H., Houstkova, H., Chowdhury, S., Zeman, J. and Houstek, J. (2001) A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. Mol. Genet. Metab. 73, 340-343
-
(2001)
Mol. Genet. Metab.
, vol.73
, pp. 340-343
-
-
Williams, S.L.1
Taanman, J.W.2
Hansikova, H.3
Houstkova, H.4
Chowdhury, S.5
Zeman, J.6
Houstek, J.7
-
22
-
-
0042967519
-
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome
-
Pecina, P., Capkova, M., Chowdhury, S. K., Drahota, Z., Dubot, A., Vojtiskova, A., Hansikova, H., Houstkova, H., Zeman, J., Godinot, C. et al. (2003) Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim. Biophys. Acta 1639, 53-63
-
(2003)
Biochim. Biophys. Acta
, vol.1639
, pp. 53-63
-
-
Pecina, P.1
Capkova, M.2
Chowdhury, S.K.3
Drahota, Z.4
Dubot, A.5
Vojtiskova, A.6
Hansikova, H.7
Houstkova, H.8
Zeman, J.9
Godinot, C.10
-
23
-
-
0001883657
-
Isolation and characteristics of intact mitochondria
-
(Darley-Usmar, V. M., Rickwood, D. and Wilson, M. T., eds.), IRLPress,Oxford,U.K
-
Rickwood, D., Wilson, M. T. and Darley-Usmar, V. M. (1987) Isolation and characteristics of intact mitochondria. In Mitochondria: A Practical Approach (Darley-Usmar, V. M., Rickwood, D. and Wilson, M. T., eds.), pp. 3-5, IRL Press, Oxford, U.K.
-
(1987)
Mitochondria: A Practical Approach
, pp. 3-5
-
-
Rickwood, D.1
Wilson, M.T.2
Darley-Usmar, V.M.3
-
24
-
-
0028832212
-
Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin
-
Klement, P., Nijtmans, L. G., Van den Bogert, C. and Houstek, J. (1995) Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin. Anal. Biochem. 231, 218-224
-
(1995)
Anal. Biochem.
, vol.231
, pp. 218-224
-
-
Klement, P.1
Nijtmans, L.G.2
Van Den Bogert, C.3
Houstek, J.4
-
25
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin, P., Chretien, D., Bourgeron, T., Gérard, B., Rötig, A., Saudubray, J. M. and Munnich, A. (1994) Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta 228, 35-51
-
(1994)
Clin. Chim. Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gérard, B.4
Rötig, A.5
Saudubray, J.M.6
Munnich, A.7
-
26
-
-
0026409298
-
Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form
-
Schägger, H. and von Jagow, G. (1991) Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form. Anal. Biochem. 199, 223-231
-
(1991)
Anal. Biochem.
, vol.199
, pp. 223-231
-
-
Schägger, H.1
Von Jagow, G.2
-
27
-
-
0033585059
-
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency
-
Coenen, M. J., van den Heuvel, L. P., Nijtmans, L. G., Morava, E., Marquardt, I., Girschick, H. J., Trijbels, F. J., Grivell, L. A. and Smeitink, J. A. (1999) SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency. Biochem. Biophys. Res. Commun. 265, 339-344
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.265
, pp. 339-344
-
-
Coenen, M.J.1
Van Den Heuvel, L.P.2
Nijtmans, L.G.3
Morava, E.4
Marquardt, I.5
Girschick, H.J.6
Trijbels, F.J.7
Grivell, L.A.8
Smeitink, J.A.9
-
28
-
-
4544315119
-
Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase
-
Leary, S. C., Kaufman, B. A., Pellecchia, G., Guercin, G.-H., Mattman, A., Jaksch, M. and Shoubridge, E. A. (2004) Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase. Hum. Mol. Genet. 13, 1839-1848
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 1839-1848
-
-
Leary, S.C.1
Kaufman, B.A.2
Pellecchia, G.3
Guercin, G.-H.4
Mattman, A.5
Jaksch, M.6
Shoubridge, E.A.7
-
29
-
-
0033754154
-
Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy
-
Valnot, I., Osmond, S., Gigarel, N., Mehaye, B., Amiel, J., Cormier-Daire, V., Munnich, A., Bonnefont, J. P., Rustin, P. and Rotig, A. (2000) Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am. J. Hum. Genet. 67, 1104-1109
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 1104-1109
-
-
Valnot, I.1
Osmond, S.2
Gigarel, N.3
Mehaye, B.4
Amiel, J.5
Cormier-Daire, V.6
Munnich, A.7
Bonnefont, J.P.8
Rustin, P.9
Rotig, A.10
-
30
-
-
1242270485
-
Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity
-
Foltopoulou, P. F., Zachariadis, G. A., Politou, A. S., Tsiftsoglou, A. S. and Papadopoulou, L. C. (2004) Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity. Mol. Genet. Metab. 81, 225-236
-
(2004)
Mol. Genet. Metab.
, vol.81
, pp. 225-236
-
-
Foltopoulou, P.F.1
Zachariadis, G.A.2
Politou, A.S.3
Tsiftsoglou, A.S.4
Papadopoulou, L.C.5
-
31
-
-
0035940540
-
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
-
Jaksch, M., Horvath, R., Horn, N., Auer, D. P., Macmillan, C., Peters, J., Gerbitz, K. D., Kraegeloh-Mann, I., Muntau, A., Karcagi, V. et al. (2001) Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy. Neurology 57, 1440-1446
-
(2001)
Neurology
, vol.57
, pp. 1440-1446
-
-
Jaksch, M.1
Horvath, R.2
Horn, N.3
Auer, D.P.4
Macmillan, C.5
Peters, J.6
Gerbitz, K.D.7
Kraegeloh-Mann, I.8
Muntau, A.9
Karcagi, V.10
-
32
-
-
0030003760
-
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria
-
Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Sala, V. M., Johnston, W. S. W., Penn, A. M. W., Buist, N. R. M. and Kennaway, N. G. (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Nat. Genet. 12, 410-416
-
(1996)
Nat. Genet.
, vol.12
, pp. 410-416
-
-
Keightley, J.A.1
Hoffbuhr, K.C.2
Burton, M.D.3
Sala, V.M.4
Johnston, W.S.W.5
Penn, A.M.W.6
Buist, N.R.M.7
Kennaway, N.G.8
-
33
-
-
0031915174
-
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease
-
Comi, G. P., Bordoni, A., Salani, S., Franceschina, L., Sciacco, M., Prelle, M., Fortunato, F., Zeviani, M., Napoli, L., Bresolin, L. et al. (1998) Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease. Ann. Neurol. 43, 110-116
-
(1998)
Ann. Neurol.
, vol.43
, pp. 110-116
-
-
Comi, G.P.1
Bordoni, A.2
Salani, S.3
Franceschina, L.4
Sciacco, M.5
Prelle, M.6
Fortunato, F.7
Zeviani, M.8
Napoli, L.9
Bresolin, L.10
-
34
-
-
0033358741
-
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV
-
Bruno, C., Martinuzzi, A., Tang, Y., Andreu, A. L., Pallotti, F., Bonilla, E., Shanske, S., Ru, J., Sue, C. M., Angelini, C. et al. (1999) A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV. Am. J. Hum. Genet. 65, 611-620
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 611-620
-
-
Bruno, C.1
Martinuzzi, A.2
Tang, Y.3
Andreu, A.L.4
Pallotti, F.5
Bonilla, E.6
Shanske, S.7
Ru, J.8
Sue, C.M.9
Angelini, C.10
-
35
-
-
0029984584
-
Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia
-
Taanman, J.-W., Burton, M. D., Marusich, M. F., Kennaway, N. G. and Capaldi, R. A. (1996) Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegia. Biochim. Biophys. Acta 1315, 199-207
-
(1996)
Biochim. Biophys. Acta
, vol.1315
, pp. 199-207
-
-
Taanman, J.-W.1
Burton, M.D.2
Marusich, M.F.3
Kennaway, N.G.4
Capaldi, R.A.5
-
36
-
-
0034607651
-
A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase
-
Hoffbuhr, K. C., Davidson, E., Filiano, B. A., Davidson, M., Kennaway, N. G. and King, M. P. (2000) A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase. J. Biol. Chem. 275, 13994-14003
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 13994-14003
-
-
Hoffbuhr, K.C.1
Davidson, E.2
Filiano, B.A.3
Davidson, M.4
Kennaway, N.G.5
King, M.P.6
-
37
-
-
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
-
38
-
-
0034327415
-
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome
-
Tiranti, V., Corona, P., Greco, M., Taanman, J. W., Carrara, F., Lamantea, E., Nijumans, L., Uziel, G. and Zeviani, M. (2000) A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. Hum. Mol. Genet. 9, 2733-2742
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 2733-2742
-
-
Tiranti, V.1
Corona, P.2
Greco, M.3
Taanman, J.W.4
Carrara, F.5
Lamantea, E.6
Nijumans, L.7
Uziel, G.8
Zeviani, M.9
-
39
-
-
0034884007
-
Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit
-
Williams, S. L., Scholte, H. R., Gray, R. G., Leonard, J. V., Schapira, A. H. and Taanman, J. W. (2001) Immunological phenotyping of fibroblast cultures from patients with a mitochondrial respiratory chain deficit. Lab. Invest. 81, 1069-1077
-
(2001)
Lab. Invest.
, vol.81
, pp. 1069-1077
-
-
Williams, S.L.1
Scholte, H.R.2
Gray, R.G.3
Leonard, J.V.4
Schapira, A.H.5
Taanman, J.W.6
-
40
-
-
0034866945
-
Assembly of cytochrome c oxidase: What can we learn from patients with cytochrome c oxidase deficiency? Biochem
-
Taanman, J.-W. and Williams, S. L. (2001) Assembly of cytochrome c oxidase: what can we learn from patients with cytochrome c oxidase deficiency? Biochem. Soc. Trans. 29, 446-451
-
(2001)
Soc. Trans.
, vol.29
, pp. 446-451
-
-
Taanman, J.-W.1
Williams, S.L.2
-
41
-
-
0019326895
-
Biosynthesis of cytochrome c oxidase in isolated rat hepatocytes
-
Hundt, E., Trapp, M. and Kadenbach, B. (1980) Biosynthesis of cytochrome c oxidase in isolated rat hepatocytes. FEBS Lett. 115, 95-99
-
(1980)
FEBS Lett.
, vol.115
, pp. 95-99
-
-
Hundt, E.1
Trapp, M.2
Kadenbach, B.3
-
42
-
-
10744220944
-
Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype
-
Tarnopolsky, M. A., Bourgeois, J. M., Fu, M.-H., Kataeva, G., Shah, J., Simon, D. K., Mahoney, D., Johns, D., MacKay, N. and Robinson, B. H. (2004) Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype. Am. J. Med. Genet. 125, 310-314
-
(2004)
Am. J. Med. Genet.
, vol.125
, pp. 310-314
-
-
Tarnopolsky, M.A.1
Bourgeois, J.M.2
Fu, M.-H.3
Kataeva, G.4
Shah, J.5
Simon, D.K.6
Mahoney, D.7
Johns, D.8
MacKay, N.9
Robinson, B.H.10
|