-
1
-
-
0029876984
-
In vivo labeling and analysis of human mitochondrial translation products
-
Chomyn, A. (1996) In vivo labeling and analysis of human mitochondrial translation products. Methods Enzymol, 264, 197-211.
-
(1996)
Methods Enzymol
, vol.264
, pp. 197-211
-
-
Chomyn, A.1
-
2
-
-
34147119553
-
In vivo and in organello analyses of mitochondrial translation
-
Fernandez-Silva, P., Acin-Perez, R., Fernandez-Vizarra, E., Perez-Martos, A. and Enriquez, J.A. (2007) In vivo and in organello analyses of mitochondrial translation. Methods Cell Biol, 80, 571-588.
-
(2007)
Methods Cell Biol
, vol.80
, pp. 571-588
-
-
Fernandez-Silva, P.1
Acin-Perez, R.2
Fernandez-Vizarra, E.3
Perez-Martos, A.4
Enriquez, J.A.5
-
3
-
-
0017351588
-
Metabolic properties of the products of mitochondrial protein synthesis in HeLa cells
-
Costantino, P. and Attardi, G. (1977) Metabolic properties of the products of mitochondrial protein synthesis in HeLa cells. J Biol Chem, 252, 1702-1711. (Pubitemid 8062369)
-
(1977)
Journal of Biological Chemistry
, vol.252
, Issue.5
, pp. 1702-1711
-
-
Costantino, P.1
Attardi, G.2
-
4
-
-
0022971592
-
2-terminal decapeptide, immunoprecipitate the whole human cytochrome c oxidase complex
-
Mariottini, P., Chomyn, A., Doolittle, R.F. and Attardi, G. (1986) Antibodies against the COOH-terminal undecapeptide of subunit II, but not those against the NH2-terminal decapeptide, immunoprecipitate the whole human cytochrome c oxidase complex. J Biol Chem, 261, 3355-3362. (Pubitemid 17204953)
-
(1986)
Journal of Biological Chemistry
, vol.261
, Issue.7
, pp. 3355-3362
-
-
Mariottini, P.1
Chomyn, A.2
Doolittle, R.F.3
Attardi, G.4
-
5
-
-
0026608057
-
MELAS mutation in mtDNA binding 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 binding 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 USA, 89, 4221-4225.
-
(1992)
Proc Natl Acad Sci USA
, 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
-
6
-
-
0025968499
-
Vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria
-
Chomyn, A., Meola, G., Bresolin, N., Lai, S.T., 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 Biol, 11, 2236-2244. (Pubitemid 21895596)
-
(1991)
Molecular and Cellular Biology
, vol.11
, Issue.4
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
Lai, S.T.4
Scarlato, G.5
Attardi, G.6
-
7
-
-
0029059067
-
MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination
-
Enriquez, J.A., Chomyn, A. and Attardi, G. (1995) MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNA(Lys) and premature translation termination. Nat Genet, 10, 47-55.
-
(1995)
Nat Genet
, vol.10
, pp. 47-55
-
-
Enriquez, J.A.1
Chomyn, A.2
Attardi, G.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. and Nonaka, I. (1991) Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction. Proc Natl Acad Sci USA, 88, 10614-10618. (Pubitemid 21915887)
-
(1991)
Proceedings of the National Academy of Sciences of the United States of America
, vol.88
, Issue.23
, pp. 10614-10618
-
-
Hayashi, J.-I.1
Ohta, S.2
Kikuchi, A.3
Takemitsu, M.4
Goto, Y.-I.5
Nonaka, I.6
-
9
-
-
0026573082
-
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes
-
King, M.P., Koga, Y., Davidson, M. and Schon, E.A. (1992) Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Mol Cell Biol, 12, 480-490.
-
(1992)
Mol Cell Biol
, vol.12
, pp. 480-490
-
-
King, M.P.1
Koga, Y.2
Davidson, M.3
Schon, E.A.4
-
10
-
-
56049087303
-
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2
-
Sasarman, F., Antonicka, H. and Shoubridge, E.A. (2008) The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2. Hum Mol Genet, 17, 3697-3707.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 3697-3707
-
-
Sasarman, F.1
Antonicka, H.2
Shoubridge, E.A.3
-
11
-
-
77955082781
-
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect
-
Antonicka, H., Ostergaard, E., Sasarman, F., Weraarpachai, W., Wibrand, F., Pedersen, A.M., Rodenburg, R.J., van der Knaap, M.S., Smeitink, J.A., Chrzanowska-Lightowlers, Z.M. et al. (2010) Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. Am J Hum Genet, 87, 115-122.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 115-122
-
-
Antonicka, H.1
Ostergaard, E.2
Sasarman, F.3
Weraarpachai, W.4
Wibrand, F.5
Pedersen, A.M.6
Rodenburg, R.J.7
Van Der Knaap, M.S.8
Smeitink, J.A.9
Chrzanowska-Lightowlers, Z.M.10
-
12
-
-
33744752749
-
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1
-
DOI 10.1093/hmg/ddl106
-
Antonicka, H., Sasarman, F., Kennaway, N.G. and Shoubridge, E.A. (2006) The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1. Hum Mol Genet, 15, 1835-1846. (Pubitemid 43821774)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.11
, pp. 1835-1846
-
-
Antonicka, H.1
Sasarman, F.2
Kennaway, N.G.3
Shoubridge, E.A.4
-
13
-
-
8344259033
-
Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
-
DOI 10.1056/NEJMoa041878
-
Coenen, M.J., Antonicka, H., Ugalde, C., Sasarman, F., Rossi, R., Heister, J.G., Newbold, R.F., Trijbels, F.J., van den Heuvel, L.P., Shoubridge, E.A. et al. (2004) Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency. N Engl J Med, 351, 2080-2086. (Pubitemid 39482501)
-
(2004)
New England Journal of Medicine
, vol.351
, Issue.20
, pp. 2080-2086
-
-
Coenen, M.J.H.1
Antonicka, H.2
Ugalde, C.3
Sasarman, F.4
Rossi, R.5
Heister, J.G.A.M.A.6
Newbold, R.F.7
Trijbels, F.J.M.F.8
Van Den Heuvel, L.P.9
Shoubridge, E.A.10
Smeitink, J.A.M.11
-
14
-
-
34147144142
-
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA)
-
DOI 10.1136/jmg.2006.045252
-
Fernandez-Vizarra, E., Berardinelli, A., Valente, L., Tiranti, V. and Zeviani, M. (2007) Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA). J Med Genet, 44, 173-180. (Pubitemid 46580526)
-
(2007)
Journal of Medical Genetics
, vol.44
, Issue.3
, pp. 173-180
-
-
Fernandez-Vizarra, E.1
Berardinelli, A.2
Valente, L.3
Tiranti, V.4
Zeviani, M.5
-
15
-
-
78650702096
-
Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency
-
Kemp, J.P., Smith, P.M., Pyle, A., Neeve, V.C., Tuppen, H.A., Schara, U., Talim, B., Topaloglu, H., Holinski-Feder, E., Abicht, A. et al. (2011) Nuclear factors involved in mitochondrial translation cause a subgroup of combined respiratory chain deficiency. Brain, 134, 183-195.
-
(2011)
Brain
, vol.134
, pp. 183-195
-
-
Kemp, J.P.1
Smith, P.M.2
Pyle, A.3
Neeve, V.C.4
Tuppen, H.A.5
Schara, U.6
Talim, B.7
Topaloglu, H.8
Holinski-Feder, E.9
Abicht, A.10
-
16
-
-
9144268494
-
Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation
-
DOI 10.1002/ana.20282
-
Miller, C., Saada, A., Shaul, N., Shabtai, N., Ben-Shalom, E., Shaag, A., Hershkovitz, E. and Elpeleg, O. (2004) Defective mitochondrial translation caused by a ribosomal protein (MRPS16) mutation. Ann Neurol, 56, 734-738. (Pubitemid 39540758)
-
(2004)
Annals of Neurology
, vol.56
, Issue.5
, pp. 734-738
-
-
Miller, C.1
Saada, A.2
Shaul, N.3
Shabtai, N.4
Ben-Shalom, E.5
Shaag, A.6
Hershkovitz, E.7
Elpeleg, O.8
-
17
-
-
77955061839
-
Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia -MLASA syndrome
-
Riley, L.G., Cooper, S., Hickey, P., Rudinger-Thirion, J., McKenzie, M., Compton, A., Lim, S.C., Thorburn, D., Ryan, M.T., Giege, R. et al. (2010) Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia -MLASA syndrome. Am J Hum Genet, 87, 52-59.
-
(2010)
Am J Hum Genet
, vol.87
, pp. 52-59
-
-
Riley, L.G.1
Cooper, S.2
Hickey, P.3
Rudinger-Thirion, J.4
McKenzie, M.5
Compton, A.6
Lim, S.C.7
Thorburn, D.8
Ryan, M.T.9
Giege, R.10
-
18
-
-
33751085653
-
Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs
-
DOI 10.1086/508434
-
Smeitink, J.A., Elpeleg, O., Antonicka, H., Diepstra, H., Saada, A., Smits, P., Sasarman, F., Vriend, G., Jacob-Hirsch, J., Shaag, A. et al. (2006) Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs. Am J Hum Genet, 79, 869-877. (Pubitemid 44763401)
-
(2006)
American Journal of Human Genetics
, vol.79
, Issue.5
, pp. 869-877
-
-
Smeitink, J.A.M.1
Elpeleg, O.2
Antonicka, H.3
Diepstra, H.4
Saada, A.5
Smits, P.6
Sasarman, F.7
Vriend, G.8
Jacob-Hirsch, J.9
Shaag, A.10
Rechavi, G.11
Welling, B.12
Horst, J.13
Rodenburg, R.J.14
Van Den Heuvel, B.15
Shoubridge, E.A.16
-
19
-
-
33846006253
-
Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu
-
DOI 10.1086/510559
-
Valente, L., Tiranti, V., Marsano, R.M., Malfatti, E., Fernandez-Vizarra, E., Donnini, C., Mereghetti, P., De Gioia, L., Burlina, A., Castellan, C. et al. (2007) Infantile encephalopathy and defective mitochondrial DNA translation in patients with mutations of mitochondrial elongation factors EFG1 and EFTu. Am J Hum Genet, 80, 44-58. (Pubitemid 46047649)
-
(2007)
American Journal of Human Genetics
, vol.80
, Issue.1
, pp. 44-58
-
-
Valente, L.1
Tiranti, V.2
Marsano, R.M.3
Malfatti, E.4
Fernandez-Vizarra, E.5
Donnini, C.6
Mereghetti, P.7
De Gioia, L.8
Burlina, A.9
Castellan, C.10
Comi, G.P.11
Savasta, S.12
Ferrero, I.13
Zeviani, M.14
-
20
-
-
69649100936
-
Acute infantile liver failure due to mutations in the TRMU gene
-
Zeharia, A., Shaag, A., Pappo, O., Mager-Heckel, A.M., Saada, A., Beinat, M., Karicheva, O., Mandel, H., Ofek, N., Segel, R. et al. (2009) Acute infantile liver failure due to mutations in the TRMU gene. Am J Hum Genet, 85, 401-407.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 401-407
-
-
Zeharia, A.1
Shaag, A.2
Pappo, O.3
Mager-Heckel, A.M.4
Saada, A.5
Beinat, M.6
Karicheva, O.7
Mandel, H.8
Ofek, N.9
Segel, R.10
|