-
1
-
-
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, 331, 717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.J.1
Harding, A.E.2
Morgan-Hughes, J.A.3
-
2
-
-
0028286575
-
Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?
-
Poulton, J., Morten, K.J., Weber, K., Brown, G.K. and Bindoff, L. (1994) Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome? Hum. Mol. Genet., 3, 947-951.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 947-951
-
-
Poulton, J.1
Morten, K.J.2
Weber, K.3
Brown, G.K.4
Bindoff, L.5
-
3
-
-
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., 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.3
Seibel, P.4
Ballinger, S.W.5
Wallace, D.C.6
-
4
-
-
0025666322
-
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Goto, Y., Nonaka, I. and Horai, S. (1990) A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature, 348, 651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.1
Nonaka, I.2
Horai, S.3
-
5
-
-
0025534162
-
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)
-
Kobayashi, Y., Momoi, M.Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y. and Ohta, S. (1990) A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem. Biophys. Res. Commun., 173, 816-822.
-
(1990)
Biochem. Biophys. Res. Commun.
, vol.173
, pp. 816-822
-
-
Kobayashi, Y.1
Momoi, M.Y.2
Tominaga, K.3
Momoi, T.4
Nihei, K.5
Yanagisawa, M.6
Kagawa, Y.7
Ohta, S.8
-
6
-
-
0033862962
-
The epidemiology of pathogenic mitochondrial DNA mutations
-
Chinnery, P.F., Johnson, M.A., Wardell, T.M., Singh-Kler, R., Hayes, C., Brown, D.T., Taylor, R.W, Bindoff, L.A. and Turnbull, D.M. (2000) The epidemiology of pathogenic mitochondrial DNA mutations. Ann. Neurol., 48, 188-193.
-
(2000)
Ann. Neurol.
, vol.48
, pp. 188-193
-
-
Chinnery, P.F.1
Johnson, M.A.2
Wardell, T.M.3
Singh-Kler, R.4
Hayes, C.5
Brown, D.T.6
Taylor, R.W.7
Bindoff, L.A.8
Turnbull, D.M.9
-
7
-
-
0034116896
-
Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment
-
Lehtonen, M.S., Uimonen, S., Hassinen, I.E. and Majamaa, K. (2000) Frequency of mitochondrial DNA point mutations among patients with familial sensorineural hearing impairment. Eur. J. Hum. Genet., 8, 315-318.
-
(2000)
Eur. J. Hum. Genet.
, vol.8
, pp. 315-318
-
-
Lehtonen, M.S.1
Uimonen, S.2
Hassinen, I.E.3
Majamaa, K.4
-
8
-
-
0037340257
-
Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey
-
Tekin, M., Duman, T., Bogoclu, G., Incesulu, A., Comak, E., Fitoz, S., Yilmaz, E., Ilhan, I. and Akar, N, (2003) Frequency of mtDNA A1555G and A7445G mutations among children with prelingual deafness in Turkey. Eur. J. Pediatr., 162, 154-158.
-
(2003)
Eur. J. Pediatr.
, vol.162
, pp. 154-158
-
-
Tekin, M.1
Duman, T.2
Bogoclu, G.3
Incesulu, A.4
Comak, E.5
Fitoz, S.6
Yilmaz, E.7
Ilhan, I.8
Akar, N.9
-
9
-
-
17344365276
-
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides
-
Estivill, X., Govea, N., Barceló, A., Perelló, E., Badenas, C., Romero, E., Moral, L., Scozzari, R., D'Urbano, L., Zeviani, M. and Torroni, A. (1998) Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment with aminoglycosides. Am. J. Hum. Genet., 62, 27-35.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 27-35
-
-
Estivill, X.1
Govea, N.2
Barceló, A.3
Perelló, E.4
Badenas, C.5
Romero, E.6
Moral, L.7
Scozzari, R.8
D'Urbano, L.9
Zeviani, M.10
Torroni, A.11
-
10
-
-
0033361927
-
The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent origins and founder events in families affected by sensorineural deafness
-
Torroni, A., Cruciani, F., Rengo, C., Sellitto, D., Lopez-Bigas, N., Rabionet, R., Govea, N., Lopez De Munain, A., Sarduy, M., Romero, L. et al. (1999) The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness. Am. J. Hum. Genet., 65, 1349-1358.
-
(1999)
Am. J. Hum. Genet.
, vol.65
, pp. 1349-1358
-
-
Torroni, A.1
Cruciani, F.2
Rengo, C.3
Sellitto, D.4
Lopez-Bigas, N.5
Rabionet, R.6
Govea, N.7
Lopez De Munain, A.8
Sarduy, M.9
Romero, L.10
-
11
-
-
0032924716
-
A novel mutation (8342G→A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus
-
Tiranti, V., Carrara, F. Confalonieri, P., Mora, M., Maffei, R.M., Lamantea, E. and Zeviani, M. (1999) A novel mutation (8342G→A in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus. Neuromusc. Disord., 9, 66-71.
-
(1999)
Neuromusc. Disord.
, vol.9
, pp. 66-71
-
-
Tiranti, V.1
Carrara, F.2
Confalonieri, P.3
Mora, M.4
Maffei, R.M.5
Lamantea, E.6
Zeviani, M.7
-
12
-
-
0031026069
-
Myoclonus epilepsy associated with ragged-red fibers: A G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families
-
Ozawa, M., Nishino, I., Horai, S., Nonaka, I. and Goto, Y.I. (1997) Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families. Muscle Nerve, 20, 271-278.
-
(1997)
Muscle Nerve
, vol.20
, pp. 271-278
-
-
Ozawa, M.1
Nishino, I.2
Horai, S.3
Nonaka, I.4
Goto, Y.I.5
-
13
-
-
0026688649
-
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
-
Silvestri, G., Moraes, C.T., Shanske, S., Oh, S.J. and DiMauro, S. (1995) A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF). Am. J. Hum. Genet., 51, 1213-1217.
-
(1995)
Am. J. Hum. Genet.
, vol.51
, pp. 1213-1217
-
-
Silvestri, G.1
Moraes, C.T.2
Shanske, S.3
Oh, S.J.4
DiMauro, S.5
-
14
-
-
0029116474
-
A novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali, C., Santorelli, F.M., D'Amati, G., Bernucci, P., DeBiase, L. and DiMauro, S. (1995) A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem. Biophys. Res. Commun., 213, 588-593.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.213
, pp. 588-593
-
-
Casali, C.1
Santorelli, F.M.2
D'Amati, G.3
Bernucci, P.4
DeBiase, L.5
DiMauro, S.6
-
15
-
-
0038238874
-
A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
-
Taylor, R.W., Giordano, C., Davidson, M.M., d'Amati, G., Bain, H., Hayes, C.M., Leonard, H., Barron, M.J., Casali, C., Santorelli, F.M. et al. (2003) A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J. Am. Coll. Cardiol., 41, 1786-1796.
-
(2003)
J. Am. Coll. Cardiol.
, vol.41
, pp. 1786-1796
-
-
Taylor, R.W.1
Giordano, C.2
Davidson, M.M.3
d'Amati, G.4
Bain, H.5
Hayes, C.M.6
Leonard, H.7
Barron, M.J.8
Casali, C.9
Santorelli, F.M.10
-
16
-
-
0029835998
-
An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy
-
Merante, F., Myint, T., Tein, I., Benson, L. and Robinson, B.H. (1996) An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum. Mutat., 8, 216-222.
-
(1996)
Hum. Mutat.
, vol.8
, pp. 216-222
-
-
Merante, F.1
Myint, T.2
Tein, I.3
Benson, L.4
Robinson, B.H.5
-
17
-
-
0026660498
-
Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy
-
Taniike, M., Fukushima, H., Yanagihara, I., Tsukamoto, H., Tanaka, J., Fujimura, H., Nagai, T., Sano, T., Yamaoka, K., Inui, K. and Okada, S. (1992) Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy. Biochem. Biophys. Res. Commun., 186, 47-53.
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.186
, pp. 47-53
-
-
Taniike, M.1
Fukushima, H.2
Yanagihara, I.3
Tsukamoto, H.4
Tanaka, J.5
Fujimura, H.6
Nagai, T.7
Sano, T.8
Yamaoka, K.9
Inui, K.10
Okada, S.11
-
18
-
-
0032976423
-
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
-
Sue, C.M., Tanji, K., Hadjigeorgiou, G., Andreu, A.L., Nishino, I., Krishna, S., Bruno, C., Hirano, M., Shanske, S., Bonilla, E. et al. (1999) Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology, 52, 1905-1908.
-
(1999)
Neurology
, vol.52
, pp. 1905-1908
-
-
Sue, C.M.1
Tanji, K.2
Hadjigeorgiou, G.3
Andreu, A.L.4
Nishino, I.5
Krishna, S.6
Bruno, C.7
Hirano, M.8
Shanske, S.9
Bonilla, E.10
-
19
-
-
0033833303
-
A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment
-
Hutchin, T.P., Parker, M.J., Young, I.D., Davis, A.C., Pulleyn, L.J., Deeble, J., Lench, N.J., Markham, A.F. and Mueller, R.F. (2000) A novel mutation in the mitochondrial tRNA(Ser(UCN)) gene in a family with non-syndromic sensorineural hearing impairment. J. Med. Genet., 37, 692-694.
-
(2000)
J. Med. Genet.
, vol.37
, pp. 692-694
-
-
Hutchin, T.P.1
Parker, M.J.2
Young, I.D.3
Davis, A.C.4
Pulleyn, L.J.5
Deeble, J.6
Lench, N.J.7
Markham, A.F.8
Mueller, R.F.9
-
20
-
-
0029119782
-
Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene
-
Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G.M., Reid, F.M., Mariotti, C. and Zeviani, M. (1995) Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene. Hum. Mol. Genet., 4, 1421-1427.
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1421-1427
-
-
Tiranti, V.1
Chariot, P.2
Carella, F.3
Toscano, A.4
Soliveri, P.5
Girlanda, P.6
Carrara, F.7
Fratta, G.M.8
Reid, F.M.9
Mariotti, C.10
Zeviani, M.11
-
21
-
-
0028288558
-
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
-
Reid, F.M., Vernham, G.A. and Jacobs, H.T. (1994) A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum. Mutat., 3, 243-247.
-
(1994)
Hum. Mutat.
, vol.3
, pp. 243-247
-
-
Reid, F.M.1
Vernham, G.A.2
Jacobs, H.T.3
-
22
-
-
0033120859
-
A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy
-
Hadjigeorgiou, G.M., Kim, S.H., Fischbeck, K.H., Andreu, A.L., Berry, G.T., Bingham, P., Shanske, S., Bonilla, E. and DiMauro, S. (1999) A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy. J. Neurol. Sci., 164, 153-157.
-
(1999)
J. Neurol. Sci.
, vol.164
, pp. 153-157
-
-
Hadjigeorgiou, G.M.1
Kim, S.H.2
Fischbeck, K.H.3
Andreu, A.L.4
Berry, G.T.5
Bingham, P.6
Shanske, S.7
Bonilla, E.8
DiMauro, S.9
-
23
-
-
0027335882
-
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA
-
Moraes, C.T., Ciacci, F., Silvestri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E.A., Bonilla, E. and DiMauro, S. (1993) Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA. Neuromusc. Disord., 3, 43-50.
-
(1993)
Neuromusc. Disord.
, vol.3
, pp. 43-50
-
-
Moraes, C.T.1
Ciacci, F.2
Silvestri, G.3
Shanske, S.4
Sciacco, M.5
Hirano, M.6
Schon, E.A.7
Bonilla, E.8
DiMauro, S.9
-
24
-
-
0029031215
-
Maternally inherited diabetes and deafness (MIDD): A distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation
-
van den Ouweland, J.M., Lemkes, H.H., Gerbitz, K.D. and Maassen, J.A. (1995) Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNA(Leu)(UUR) gene point mutation. Muscle Nerve, 3, S124-130.
-
(1995)
Muscle Nerve
, vol.3
-
-
van den Ouweland, J.M.1
Lemkes, H.H.2
Gerbitz, K.D.3
Maassen, J.A.4
-
25
-
-
0029029469
-
Mitochondrial DNA (mtDNA) diseases: Correlation of genotype to phenotype
-
1271
-
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. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim. Biophys. Acta., 1271, 135-140.
-
Biochim. Biophys. Acta.
, 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
-
26
-
-
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
-
27
-
-
0025968499
-
In 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.
-
(1991)
Mol. Cell. Biol.
, vol.11
, pp. 2236-2244
-
-
Chomyn, A.1
Meola, G.2
Bresolin, N.3
Lai, S.T.4
Scarlato, G.5
Attardi, G.6
-
28
-
-
0028929372
-
In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: Two genotypes produce similar phenotypes
-
Masucci, J.P., Davidson, M., Koga, Y., Schon, E.A. and King, M.P. (1995) In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. Mol. Cell. Biol., 15, 2872-2881.
-
(1995)
Mol. Cell. Biol.
, vol.15
, pp. 2872-2881
-
-
Masucci, J.P.1
Davidson, M.2
Koga, Y.3
Schon, E.A.4
King, M.P.5
-
29
-
-
0029079541
-
Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes
-
Dunbar, D.R., Moonie, P.A., Jacobs, H.T. and Holt, I.J. (1995) Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes. Proc. Natl Acad. Sci. USA, 92, 6562-6566.
-
(1995)
Proc. Natl. Acad. Sci. USA
, vol.92
, pp. 6562-6566
-
-
Dunbar, D.R.1
Moonie, P.A.2
Jacobs, H.T.3
Holt, I.J.4
-
30
-
-
0033983248
-
Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA
-
Lehtinen, S.K., Hance, N., El Meziane, A., Juhola, M.K., Juhola, K.M., Karhu, R., Spelbrink, J.N., Holt, I.J. and Jacobs, H.T. (2000) Genotypic stability, segregation and selection in heteroplasmic human cell lines containing np 3243 mutant mtDNA. Genetics, 154, 363-380.
-
(2000)
Genetics
, vol.154
, pp. 363-380
-
-
Lehtinen, S.K.1
Hance, N.2
El Meziane, A.3
Juhola, M.K.4
Juhola, K.M.5
Karhu, R.6
Spelbrink, J.N.7
Holt, I.J.8
Jacobs, H.T.9
-
31
-
-
0033232312
-
Heteroplasmic segregation associated with trisomy-9 in cultured human cells
-
Lehtinen, S.K., Spelbrink, J.N. and Jacobs, H.T. (1999) Heteroplasmic segregation associated with trisomy-9 in cultured human cells. Somatic Cell Mol. Genet., 25, 263-274.
-
(1999)
Somatic Cell Mol. Genet.
, vol.25
, pp. 263-274
-
-
Lehtinen, S.K.1
Spelbrink, J.N.2
Jacobs, H.T.3
-
32
-
-
0030951244
-
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice
-
Jenuth, J.P., Peterson, A.C. and Shoubridge, E.A. (1997) Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice. Nat. Genet., 16, 93-95.
-
(1997)
Nat. Genet.
, vol.16
, pp. 93-95
-
-
Jenuth, J.P.1
Peterson, A.C.2
Shoubridge, E.A.3
-
33
-
-
0037313092
-
Nuclear genetic control of mitochondrial DNA segregation
-
Battersby, B.J., Loredo-Osti, J.C. and Shoubridge, E.A. (2003) Nuclear genetic control of mitochondrial DNA segregation. Nat. Genet., 33, 183-186.
-
(2003)
Nat. Genet.
, vol.33
, pp. 183-186
-
-
Battersby, B.J.1
Loredo-Osti, J.C.2
Shoubridge, E.A.3
-
34
-
-
0031593558
-
Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation
-
El Meziane, A., Lehtinen, S.K., Holt, I.J. and Jacobs, H.T. (1998) Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation. Hum. Mol. Genet., 7, 2141-2147.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 2141-2147
-
-
El Meziane, A.1
Lehtinen, S.K.2
Holt, I.J.3
Jacobs, H.T.4
-
35
-
-
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.A., 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, 19198-191209.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 19198-191209
-
-
Chomyn, A.1
Enriquez, J.A.2
Micol, V.3
Fernandez-Silva, P.4
Attardi, G.5
-
36
-
-
0342470992
-
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients
-
Börner, G.V., Zeviani, M., Tiranti, V., Carrara, F., Hoffmann, S., Gerbitz, K.D., Lochmuller, H., Pongratz, D., Klopstock, T., Melberg, A., Holme, E. and Pääbo, S. (2000) Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. Hum. Mol. Genet., 9, 467-475.
-
(2000)
Hum. Mol. Genet.
, vol.9
, pp. 467-475
-
-
Börner, G.V.1
Zeviani, M.2
Tiranti, V.3
Carrara, F.4
Hoffmann, S.5
Gerbitz, K.D.6
Lochmuller, H.7
Pongratz, D.8
Klopstock, T.9
Melberg, A.10
Holme, E.11
Pääbo, S.12
-
37
-
-
0034635519
-
Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
-
Yasukawa, T., Suzuki, T., Ueda, T., Ohta, S. and Watanabe, K. (2000) Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. J. Biol. Chem., 275, 4251-4257.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 4251-4257
-
-
Yasukawa, T.1
Suzuki, T.2
Ueda, T.3
Ohta, S.4
Watanabe, K.5
-
38
-
-
0032555354
-
Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases
-
Rossmanith, W. and Karwan, R. (1998) Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases. FEBS Lett., 433, 269-274.
-
(1998)
FEBS Lett.
, vol.433
, pp. 269-274
-
-
Rossmanith, W.1
Karwan, R.2
-
39
-
-
0031895748
-
A tRNA suppressor mutation in human mitochondria
-
El Meziane, A., Lehtinen, S.K., Hance, N., Nijtmans, L.G., Dunbar, D., Holt, I.J. and Jacobs, H.T. (1998) A tRNA suppressor mutation in human mitochondria. Nat. Genet., 18, 350-353.
-
(1998)
Nat. Genet.
, vol.18
, pp. 350-353
-
-
El Meziane, A.1
Lehtinen, S.K.2
Hance, N.3
Nijtmans, L.G.4
Dunbar, D.5
Holt, I.J.6
Jacobs, H.T.7
-
40
-
-
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). Nucl. Acids Res., 27, 756-763.
-
(1999)
Nucl. Acids Res.
, vol.27
, pp. 756-763
-
-
Helm, M.1
Florentz, C.2
Chomyn, A.3
Attardi, G.4
-
41
-
-
0033569992
-
The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate
-
Janssen, G.M., Maassen, J.A. and van Den Ouweland, J.M. (1999) The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate. J. Biol. Chem., 274, 29744-29748.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 29744-29748
-
-
Janssen, G.M.1
Maassen, J.A.2
van Den Ouweland, J.M.3
-
42
-
-
0037011177
-
Taurine as a constituent of mitochondrial tRNAs: New insights into the functions of taurine and human mitochondrial diseases
-
Suzuki, T., Suzuki, T., Wada, T., Saigo, K. and Watanabe, K. (2002) Taurine as a constituent of mitochondrial tRNAs: New insights into the functions of taurine and human mitochondrial diseases. EMBO J., 21, 6581-6589.
-
(2002)
EMBO J.
, vol.21
, pp. 6581-6589
-
-
Suzuki, T.1
Suzuki, T.2
Wada, T.3
Saigo, K.4
Watanabe, K.5
-
43
-
-
0030059913
-
Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids
-
Dunbar, D.R., Moonie, P.A., Zeviani, M. and Holt, I.J. (1996) Complex I deficiency is associated with 3243G:C mitochondrial DNA in osteosarcoma cell cybrids. Hum. Mol. Genet., 5, 123-129.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 123-129
-
-
Dunbar, D.R.1
Moonie, P.A.2
Zeviani, M.3
Holt, I.J.4
-
44
-
-
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
-
45
-
-
0034747856
-
An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome
-
Ravn, K., Wibrand, F., Hansen, F.J., Horn, N., Rosenberg, T. and Schwartz, M. (2001) An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. Eur. J. Hum. Genet., 9, 805-809.
-
(2001)
Eur. J. Hum. Genet.
, vol.9
, pp. 805-809
-
-
Ravn, K.1
Wibrand, F.2
Hansen, F.J.3
Horn, N.4
Rosenberg, T.5
Schwartz, M.6
-
46
-
-
0033968067
-
Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation
-
Yasukawa, T., Suzuki, T., Ishii, N., Ueda, T., Ohta, S. and Watanabe, K. (2000) Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation. FEBS Lett., 467, 175-178.
-
(2000)
FEBS Lett.
, vol.467
, pp. 175-178
-
-
Yasukawa, T.1
Suzuki, T.2
Ishii, N.3
Ueda, T.4
Ohta, S.5
Watanabe, K.6
-
47
-
-
0035801225
-
Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease
-
Yasukawa, T,. Suzuki, T., Ishii, N., Ohta, S. and Watanabe, K. (2001) Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease. EMBO J., 20, 4794-4802.
-
(2001)
EMBO J.
, vol.20
, pp. 4794-4802
-
-
Yasukawa, T.1
Suzuki, T.2
Ishii, N.3
Ohta, S.4
Watanabe, K.5
-
48
-
-
0031049863
-
Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation
-
Reid, F.M., Rovio, A., Holt, I.J. and Jacobs, H.T. (1997) Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation. Hum. Mol. Genet., 6, 443-449.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 443-449
-
-
Reid, F.M.1
Rovio, A.2
Holt, I.J.3
Jacobs, H.T.4
-
49
-
-
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
-
50
-
-
0035497972
-
In vitro 3′-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness
-
Levinger, L., Jacobs, O. and James, M. (2001) In vitro 3′-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness. Nucl. Acids Res., 29, 4334-4340.
-
(2001)
Nucl. Acids Res.
, vol.29
, pp. 4334-4340
-
-
Levinger, L.1
Jacobs, O.2
James, M.3
-
51
-
-
0032697467
-
Molecular phenotype of the up 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids
-
Toompuu, M., Tiranti, V., Zeviani, M. and Jacobs, H.T. (1999) Molecular phenotype of the up 7472 deafness-associated mitochondrial mutation in osteosarcoma cell cybrids. Hum. Mol. Genet., 8, 2275-2283.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 2275-2283
-
-
Toompuu, M.1
Tiranti, V.2
Zeviani, M.3
Jacobs, H.T.4
-
52
-
-
0037151016
-
The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover
-
Toompuu, M., Yasukawa, T., Suzuki, T., Hakkinen, T., Spelbrink, J.N., Watanabe, K. and Jacobs, H.T. (2002) The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover. J. Biol. Chem., 277, 22240-22250.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 22240-22250
-
-
Toompuu, M.1
Yasukawa, T.2
Suzuki, T.3
Hakkinen, T.4
Spelbrink, J.N.5
Watanabe, K.6
Jacobs, H.T.7
-
53
-
-
0037388028
-
Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3′ end processing efficiency in vitro
-
Levinger, L., Giege, R. and Florentz, C. (2003) Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3′ end processing efficiency in vitro. Nucl. Acids Res., 31, 1904-1912.
-
(2003)
Nucl. Acids Res.
, vol.31
, pp. 1904-1912
-
-
Levinger, L.1
Giege, R.2
Florentz, C.3
-
54
-
-
0034307731
-
A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile)
-
Yasukawa, T., Hino, N., Suzuki, T., Watanabe, K., Ueda, T. and Ohta, S. (2000) A pathogenic point mutation reduces stability of mitochondrial mutant tRNA(Ile). Nucl. Acids Res., 28, 3779-3784.
-
(2000)
Nucl. Acids Res.
, vol.28
, pp. 3779-3784
-
-
Yasukawa, T.1
Hino, N.2
Suzuki, T.3
Watanabe, K.4
Ueda, T.5
Ohta, S.6
-
55
-
-
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.
-
(1991)
Proc. Natl. Acad. Sci. USA
, vol.88
, pp. 10614-10618
-
-
Hayashi, J.1
Ohta, S.2
Kikuchi, A.3
Takemitsu, M.4
Goto, Y.5
Nonaka, I.6
-
56
-
-
0032546761
-
tRNA imbalance promotes-1 frameshifting via near-cognate decoding
-
O'Connor, M. (1998) tRNA imbalance promotes-1 frameshifting via near-cognate decoding. J. Mol Biol., 279, 727-736.
-
(1998)
J. Mol Biol.
, vol.279
, pp. 727-736
-
-
O'Connor, M.1
-
57
-
-
0028876057
-
How do alterations in plant mitochondrial genomes disrupt pollen development?
-
Conley, C.A. and Hanson, M.R. (1995) How do alterations in plant mitochondrial genomes disrupt pollen development? J. Bioenerg. Biomembr., 27, 447-457.
-
(1995)
J. Bioenerg. Biomembr.
, vol.27
, pp. 447-457
-
-
Conley, C.A.1
Hanson, M.R.2
-
58
-
-
0034177951
-
Tissue variation in the control of oxidative phosphorylation: Implication for mitochondrial diseases
-
Rossignol, R., Letellier, T., Malgat, M., Rocher, C. and Mazat, J.P. (2000) Tissue variation in the control of oxidative phosphorylation: 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
-
59
-
-
0041589301
-
Proteomic consequences of a human mitochondrial tRNA mutation beyond the frame of mitochondrial translation
-
Tryoen-Toth, P., Richert, S., Sohm, B., Mine, M., Marsac, C., Van Dorsselaer, A., Leize, E. and Florentz, C. (2003) Proteomic consequences of a human mitochondrial tRNA mutation beyond the frame of mitochondrial translation. J. Biol. Chem., 278, 24314-24323.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 24314-24323
-
-
Tryoen-Toth, P.1
Richert, S.2
Sohm, B.3
Mine, M.4
Marsac, C.5
Van Dorsselaer, A.6
Leize, E.7
Florentz, C.8
-
60
-
-
0033616152
-
Regulation of energy metabolism in human cells in aging and diabetes: FoF(1), mtDNA, UCP, and ROS
-
Kagawa, Y., Cha, S.H., Hasegawa, K., Hamamoto, T. and Endo, H. (1999) Regulation of energy metabolism in human cells in aging and diabetes: FoF(1), mtDNA, UCP, and ROS. Biochem. Biophys. Res. Commun., 266, 662-676.
-
(1999)
Biochem. Biophys. Res. Commun.
, vol.266
, pp. 662-676
-
-
Kagawa, Y.1
Cha, S.H.2
Hasegawa, K.3
Hamamoto, T.4
Endo, H.5
-
61
-
-
0037178851
-
Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation
-
Li, X., Li, R., Lin, X. and Guan, M.X. (2002) Isolation and characterization of the putative nuclear modifier gene MTO1 involved in the pathogenesis of deafness-associated mitochondrial 12S rRNA A1555G mutation. J. Biol. Chem., 277, 27256-27264.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 27256-27264
-
-
Li, X.1
Li, R.2
Lin, X.3
Guan, M.X.4
-
62
-
-
0032561194
-
MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae
-
Colby, G., Wu, M. and Tzagoloff, A. (1998) MTO1 codes for a mitochondrial protein required for respiration in paromomycin-resistant mutants of Saccharomyces cerevisiae. J. Biol. Chem., 273, 27945-27952.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 27945-27952
-
-
Colby, G.1
Wu, M.2
Tzagoloff, A.3
-
63
-
-
0036837683
-
A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation
-
Li, X. and Guan, M.X. (2002) A human mitochondrial GTP binding protein related to tRNA modification may modulate phenotypic expression of the deafness-associated mitochondrial 12S rRNA mutation. Mol. Cell. Biol., 22, 7701-7711.
-
(2002)
Mol. Cell. Biol.
, vol.22
, pp. 7701-7711
-
-
Li, X.1
Guan, M.X.2
-
64
-
-
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
-
65
-
-
18544371057
-
Modifier locus for mitochondrial DNA disease: Linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness
-
Bykhovskaya, Y., Yang, H., Taylor, K., Hang, T., Tun, R.Y., Estivill, X., Casano, R.A., Majamaa, K., Shohat, M. and Fischel-Ghodsian, N. (2001) Modifier locus for mitochondrial DNA disease: linkage and linkage disequilibrium mapping of a nuclear modifier gene for maternally inherited deafness. Genet. Med., 3, 177-180.
-
(2001)
Genet. Med.
, vol.3
, pp. 177-180
-
-
Bykhovskaya, Y.1
Yang, H.2
Taylor, K.3
Hang, T.4
Tun, R.Y.5
Estivill, X.6
Casano, R.A.7
Majamaa, K.8
Shohat, M.9
Fischel-Ghodsian, N.10
-
66
-
-
0034809484
-
Technical knockout, a Drosophila model of mitochondrial deafness
-
Toivonen, J.M., O'Dell, K.M.C., Petit, N., Irvine, S.C., Knight, G.K., Lehtonen, M., Longmuir, M., Luoto, K., Touraille, S., Wang, Z. et al. (2001) Technical knockout, a Drosophila model of mitochondrial deafness. Genetics, 159, 241-254.
-
(2001)
Genetics
, vol.159
, pp. 241-254
-
-
Toivonen, J.M.1
O'Dell, K.M.C.2
Petit, N.3
Irvine, S.C.4
Knight, G.K.5
Lehtonen, M.6
Longmuir, M.7
Luoto, K.8
Touraille, S.9
Wang, Z.10
-
67
-
-
0033527573
-
Expression of the gene for mitoribosomal protein S12 is controlled in human cells at the levels of transcription, RNA splicing, and translation
-
Mariottini, P., Shah, Z.H., Toivonen, J.M., Bagni, C., Spelbrink, J.N., Amaldi, F. and Jacobs, H.T. (1999) Expression of the gene for mitoribosomal protein S12 is controlled in human cells at the levels of transcription, RNA splicing, and translation. J. Biol. Chem., 274, 31853-31862.
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 31853-31862
-
-
Mariottini, P.1
Shah, Z.H.2
Toivonen, J.M.3
Bagni, C.4
Spelbrink, J.N.5
Amaldi, F.6
Jacobs, H.T.7
-
68
-
-
0037238395
-
Interactions among COX1, COX2, and COX3 mRNA-specific translational activator proteins on the inner surface of the mitochondrial inner membrane of Saccharomyces cerevisiae
-
Naithani, S., Saracco, S.A., Butler, C.A. and Fox, T.D. (2003) Interactions among COX1, COX2, and COX3 mRNA-specific translational activator proteins on the inner surface of the mitochondrial inner membrane of Saccharomyces cerevisiae. Mol. Biol. Cell., 14, 324-333.
-
(2003)
Mol. Biol. Cell.
, vol.14
, pp. 324-333
-
-
Naithani, S.1
Saracco, S.A.2
Butler, C.A.3
Fox, T.D.4
-
69
-
-
0037009120
-
Membrane protein degradation by AAA proteases in mitochondria
-
1592
-
Arnold, I. and Langer, T. (2002) Membrane protein degradation by AAA proteases in mitochondria. Biochim. Biophys. Acta, 1592, 89-96.
-
(2002)
Biochim. Biophys. Acta
, pp. 89-96
-
-
Arnold, I.1
Langer, T.2
-
70
-
-
0037096760
-
Type 2 diabetes is associated with a common mitochondrial variant: Evidence from a population-based case-control study
-
Poulton, J., Luan, J., Macaulay, V., Hennings, S., Mitchell, J. and Wareham, N.J. (2002) Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study. Hum. Mol. Genet., 15, 1581-1583.
-
(2002)
Hum. Mol. Genet.
, vol.15
, pp. 1581-1583
-
-
Poulton, J.1
Luan, J.2
Macaulay, V.3
Hennings, S.4
Mitchell, J.5
Wareham, N.J.6
-
71
-
-
0035925906
-
A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations
-
Khogali, S.S., Mayosi, B.M., Beattie, J.M., McKenna, W.J., Watkins, H. and Poulton, J. (2001) A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations. Lancet, 357, 1265-1267.
-
(2001)
Lancet
, vol.357
, pp. 1265-1267
-
-
Khogali, S.S.1
Mayosi, B.M.2
Beattie, J.M.3
McKenna, W.J.4
Watkins, H.5
Poulton, J.6
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