-
1
-
-
73249151195
-
Mitochondrial DNA mutations and human disease
-
Tuppen, H. A., Blakely, E. L., Turnbull, D. M. and Taylor, R. W. (2010) Mitochondrial DNA mutations and human disease. Biochim. Biophys. Acta 1797, 113-128
-
(2010)
Biochim. Biophys. Acta
, vol.1797
, pp. 113-128
-
-
Tuppen, H.A.1
Blakely, E.L.2
Turnbull, D.M.3
Taylor, R.W.4
-
2
-
-
77953507107
-
Mitochondrial DNA mutations in disease and aging
-
Wallace, D. C. (2010) Mitochondrial DNA mutations in disease and aging. Environ. Mol. Mutagen. 51, 440-450
-
(2010)
Environ. Mol. Mutagen.
, vol.51
, pp. 440-450
-
-
Wallace, D.C.1
-
3
-
-
19444380425
-
Nuclear genes and mitochondrial translation: A new class of genetic disease
-
Jacobs, H. T. and Turnbull, D. M. (2005) Nuclear genes and mitochondrial translation: a new class of genetic disease. Trends Genet. 21, 312-314
-
(2005)
Trends Genet.
, vol.21
, pp. 312-314
-
-
Jacobs, H.T.1
Turnbull, D.M.2
-
4
-
-
34047109743
-
Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
-
Scheper, G. C., Van Der Klok, T., van Andel, R. J., van Berkel, C. G., Sissler, M., Smet, J., Muravina, T. I., Serkov, S. V., Uziel, G., Bugiani, M. et al. (2007) Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. Nat. Genet. 39, 534-539
-
(2007)
Nat. Genet.
, vol.39
, pp. 534-539
-
-
Scheper, G.C.1
Van Der Klok, T.2
Van Andel, R.J.3
Van Berkel, C.G.4
Sissler, M.5
Smet, J.6
Muravina, T.I.7
Serkov, S.V.8
Uziel, G.9
Bugiani, M.10
-
5
-
-
78650210763
-
Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: A new mutation in the DARS2 gene
-
Lin, J., Faria, E. C., Da Rocha, A. J., Masruha, M. R., Vilanova, L. C., Scheper, G. C. and Van Der Knaap, M. S. (2010) Leukoencephalopathy with brainstem and spinal cord involvement and normal lactate: a new mutation in the DARS2 gene. J. Child. Neurol. 25, 1425-1428
-
(2010)
J. Child. Neurol.
, vol.25
, pp. 1425-1428
-
-
Lin, J.1
Faria, E.C.2
Da Rocha, A.J.3
Masruha, M.R.4
Vilanova, L.C.5
Scheper, G.C.6
Van Der Knaap, M.S.7
-
6
-
-
74549201114
-
DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis
-
Isohanni, P., Linnankivi, T., Buzkova, J., Lönnqvist, T., Pihko, H., Valanne, L., Tienari, P. J., Elovaara, I., Pirttilä, T., Reunanen, M., Koivisto, K., Marjavaara, S. and Suomalainen, A. (2010) DARS2 mutations in mitochondrial leucoencephalopathy and multiple sclerosis. J. Med. Genet. 47, 66-70
-
(2010)
J. Med. Genet.
, vol.47
, pp. 66-70
-
-
Isohanni, P.1
Linnankivi, T.2
Buzkova, J.3
Lönnqvist, T.4
Pihko, H.5
Valanne, L.6
Tienari, P.J.7
Elovaara, I.8
Pirttilä, T.9
Reunanen, M.10
Koivisto, K.11
Marjavaara, S.12
Suomalainen, A.13
-
7
-
-
35348983348
-
Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia
-
Edvardson, S., Shaag, A., Kolesnikova, O., Gomori, J. M., Tarassov, I., Einbinder, T., Saada, A. and Elpeleg, O. (2007) Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia. Am. J. Hum. Genet. 81, 857-862
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 857-862
-
-
Edvardson, S.1
Shaag, A.2
Kolesnikova, O.3
Gomori, J.M.4
Tarassov, I.5
Einbinder, T.6
Saada, A.7
Elpeleg, O.8
-
8
-
-
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., Giegé, R., Bahlo, M. and Christodoulou, J. (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
Giegé, R.10
Bahlo, M.11
Christodoulou, J.12
-
9
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
-
Antonellis, A., Ellsworth, R. E., Sambuughin, N., Puls, I., Abel, A., Lee-Lin, S. Q., Jordanova, A., Kremensky, I., Christodoulou, K., Middleton, L. T. et al. (2003) Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am. J. Hum. Genet. 72, 1293-1299
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
Puls, I.4
Abel, A.5
Lee-Lin, S.Q.6
Jordanova, A.7
Kremensky, I.8
Christodoulou, K.9
Middleton, L.T.10
-
10
-
-
34547224267
-
Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase
-
Xie, W., Nangle, L. A., Zhang, W., Schimmel, P. and Yang, X. L. (2007) Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. Proc. Natl. Acad. Sci. U.S.A. 104, 9976-9981
-
(2007)
Proc. Natl. Acad. Sci. U.S.A.
, vol.104
, pp. 9976-9981
-
-
Xie, W.1
Nangle, L.A.2
Zhang, W.3
Schimmel, P.4
Yang, X.L.5
-
11
-
-
15444367104
-
Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: Characterization of AspRS and TyrRS
-
DOI 10.1021/bi047527z
-
Bonnefond, L., Fender, A., Rudinger-Thirion, J., Gieǵe, R., Florentz, C. and Sissler, M. (2005) Towards the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS. Biochemistry 44, 4805-4816 (Pubitemid 40396759)
-
(2005)
Biochemistry
, vol.44
, Issue.12
, pp. 4805-4816
-
-
Bonnefond, L.1
Fender, A.2
Rudinger-Thirion, J.3
Giege, R.4
Florentz, C.5
Sissler, M.6
-
12
-
-
0037009089
-
Mitochondrial processing peptidases
-
Gakh, O., Cavadini, P. and Isaya, G. (2002) Mitochondrial processing peptidases. Biochim. Biophys. Acta 1592, 63-77
-
(2002)
Biochim. Biophys. Acta
, vol.1592
, pp. 63-77
-
-
Gakh, O.1
Cavadini, P.2
Isaya, G.3
-
13
-
-
34249873947
-
Translocation of proteins into mitochondria
-
Neupert, W. and Herrmann, J. M. (2007) Translocation of proteins into mitochondria. Annu. Rev. Biochem. 76, 723-749
-
(2007)
Annu. Rev. Biochem.
, vol.76
, pp. 723-749
-
-
Neupert, W.1
Herrmann, J.M.2
-
14
-
-
34848823742
-
Mitochondrial protein-import machinery: Correlating structure with function
-
Baker, M. J., Frazier, A. E., Gulbis, J. M. and Ryan, M. T. (2007) Mitochondrial protein-import machinery: correlating structure with function. Trends Cell Biol. 17, 456-464
-
(2007)
Trends Cell Biol.
, vol.17
, pp. 456-464
-
-
Baker, M.J.1
Frazier, A.E.2
Gulbis, J.M.3
Ryan, M.T.4
-
15
-
-
37849035983
-
Multiple pathways for sorting mitochondrial precursor proteins
-
Bolender, N., Sickmann, A., Wagner, R., Meisinger, C. and Pfanner, N. (2008) Multiple pathways for sorting mitochondrial precursor proteins. EMBO Rep. 9, 42-49
-
(2008)
EMBO Rep.
, vol.9
, pp. 42-49
-
-
Bolender, N.1
Sickmann, A.2
Wagner, R.3
Meisinger, C.4
Pfanner, N.5
-
16
-
-
77953020406
-
On the mechanism of preprotein import by the mitochondrial presequence translocase
-
Van Der Laan, M., Hutu, D. P. and Rehling, P. (2010) On the mechanism of preprotein import by the mitochondrial presequence translocase. Biochim. Biophys. Acta 1803, 732-739
-
(2010)
Biochim. Biophys. Acta
, vol.1803
, pp. 732-739
-
-
Van Der Laan, M.1
Hutu, D.P.2
Rehling, P.3
-
17
-
-
28044436758
-
Dual targeting is the rule for organellar aminoacyl-tRNA synthetases in Arabidopsis thaliana
-
Duchêne, A. M., Giritch, A., Hoffmann, B., Cognat, V., Lancelin, D., Peeters, N. M., Zaepfel, M., Maréchal-Drouard, L. and Small, I. D. (2005) Dual targeting is the rule for organellar aminoacyl-tRNA synthetases in Arabidopsis thaliana. Proc. Natl. Acad. Sci. U.S.A. 102, 16484-16489
-
(2005)
Proc. Natl. Acad. Sci. U.S.A.
, vol.102
, pp. 16484-16489
-
-
Duchêne, A.M.1
Giritch, A.2
Hoffmann, B.3
Cognat, V.4
Lancelin, D.5
Peeters, N.M.6
Zaepfel, M.7
Maréchal-Drouard, L.8
Small, I.D.9
-
18
-
-
0029788381
-
The role of positive charges and structural segments in the presequence of rat liver aldehyde dehydrogenase in import into mitochondria
-
Hammen, P. K., Waltner, M., Hahnemann, B., Heard, T. S. and Weiner, H. (1996) The role of positive charges and structural segments in the presequence of rat liver aldehyde dehydrogenase in import into mitochondria. J. Biol. Chem. 271, 21041-21048
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 21041-21048
-
-
Hammen, P.K.1
Waltner, M.2
Hahnemann, B.3
Heard, T.S.4
Weiner, H.5
-
19
-
-
0024468352
-
Purification and characterization of a processing protease from rat liver mitochondria
-
Ou, W. J., Ito, A., Okazaki, H. and Omura, T. (1989) Purification and characterization of a processing protease from rat liver mitochondria. EMBO J. 8, 2605-2612 (Pubitemid 19273345)
-
(1989)
EMBO Journal
, vol.8
, Issue.9
, pp. 2605-2612
-
-
Ou, W.-J.1
Okazaki, H.2
Omura, T.3
-
20
-
-
37549015259
-
Precursor protein is readily degraded in mitochondrial matrix space if the leader is not processed by mitochondrial processing peptidase
-
Mukhopadhyay, A., Yang, C. S., Wei, B. and Weiner, H. (2007) Precursor protein is readily degraded in mitochondrial matrix space if the leader is not processed by mitochondrial processing peptidase. J. Biol. Chem. 282, 37266-37275
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 37266-37275
-
-
Mukhopadhyay, A.1
Yang, C.S.2
Wei, B.3
Weiner, H.4
-
21
-
-
34247562746
-
How can organellar protein N-terminal sequences be dual targeting signals? In silico analysis and mutagenesis approach
-
Pujol, C., Maréchal-Drouard, L. and Duchêne, A. M. (2007) How can organellar protein N-terminal sequences be dual targeting signals? In silico analysis and mutagenesis approach. J. Mol. Biol. 369, 356-367
-
(2007)
J. Mol. Biol.
, vol.369
, pp. 356-367
-
-
Pujol, C.1
Maréchal-Drouard, L.2
Duchêne, A.M.3
-
22
-
-
77956095201
-
New functions of aminoacyl-tRNA synthetases beyond translation
-
Guo, M., Yang, X. L. and Schimmel, P. (2010) New functions of aminoacyl-tRNA synthetases beyond translation. Nat. Rev. Mol. Cell Biol. 11, 668-674
-
(2010)
Nat. Rev. Mol. Cell Biol.
, vol.11
, pp. 668-674
-
-
Guo, M.1
Yang, X.L.2
Schimmel, P.3
-
23
-
-
34247127747
-
Mitochondrial protein import and human health and disease
-
MacKenzie, J. A. and Payne, R. M. (2007) Mitochondrial protein import and human health and disease. Biochim. Biophys. Acta 1772, 509-523
-
(2007)
Biochim. Biophys. Acta
, vol.1772
, pp. 509-523
-
-
MacKenzie, J.A.1
Payne, R.M.2
-
24
-
-
0033514928
-
Human deafness dystonia syndrome is a mitochondrial disease
-
Koehler, C. M., Leuenberger, D., Merchant, S., Renold, A., Junne, T. and Schatz, G. (1999) Human deafness dystonia syndrome is a mitochondrial disease. Proc. Natl. Acad. Sci. U.S.A. 96, 2141-2146
-
(1999)
Proc. Natl. Acad. Sci. U.S.A.
, vol.96
, pp. 2141-2146
-
-
Koehler, C.M.1
Leuenberger, D.2
Merchant, S.3
Renold, A.4
Junne, T.5
Schatz, G.6
-
25
-
-
33646427709
-
Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
-
Davey, K. M., Parboosingh, J. S., McLeod, D. R., Chan, A., Casey, R., Ferreira, P., Snyder, F. F., Bridge, P. J. and Bernier, F. P. (2006) Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J. Med. Genet. 43, 385-393
-
(2006)
J. Med. Genet.
, vol.43
, pp. 385-393
-
-
Davey, K.M.1
Parboosingh, J.S.2
McLeod, D.R.3
Chan, A.4
Casey, R.5
Ferreira, P.6
Snyder, F.F.7
Bridge, P.J.8
Bernier, F.P.9
-
26
-
-
0029162897
-
An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein
-
Takakubo, F., Cartwright, P., Hoogenraad, N., Thorburn, D. R., Collins, F., Lithgow, T. and Dahl, H. H. (1995) An amino acid substitution in the pyruvate dehydrogenase E1 alpha gene, affecting mitochondrial import of the precursor protein. Am. J. Hum. Genet. 57, 772-780
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 772-780
-
-
Takakubo, F.1
Cartwright, P.2
Hoogenraad, N.3
Thorburn, D.R.4
Collins, F.5
Lithgow, T.6
Dahl, H.H.7
-
27
-
-
0037339203
-
16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria
-
DOI 10.1097/00008571-200303000-00004
-
Sutton, A., Khoury, H., Prip-Buus, C., Cepanec, C., Pessayre, D. and Degoul, F. (2003) The Ala16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria. Pharmacogenetics 13, 145-157 (Pubitemid 36324244)
-
(2003)
Pharmacogenetics
, vol.13
, Issue.3
, pp. 145-157
-
-
Sutton, A.1
Khoury, H.2
Prip-Buus, C.3
Cepanec, C.4
Pessayre, D.5
Degoul, F.6
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