-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J., Staden R., Young I.G. Sequence and organization of the human mitochondrial genome. Nature 1981, 290:457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.G.3
de Bruijn, M.H.4
Coulson, A.R.5
Drouin, J.6
Eperon, I.C.7
Nierlich, D.P.8
Roe, B.A.9
Sanger, F.10
Schreier, P.H.11
Smith, A.J.12
Staden, R.13
Young, I.G.14
-
2
-
-
77950517380
-
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO)
-
Berardo A., Coku J., Kurt B., DiMauro S., Hirano M. A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). Neuromuscul. Disord. 2010, 20:204-206.
-
(2010)
Neuromuscul. Disord.
, vol.20
, pp. 204-206
-
-
Berardo, A.1
Coku, J.2
Kurt, B.3
DiMauro, S.4
Hirano, M.5
-
3
-
-
0035231595
-
Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues
-
Birch-Machin M.A., Turnbull D.M. Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues. Methods Cell Biol. 2001, 65:97-117.
-
(2001)
Methods Cell Biol.
, vol.65
, pp. 97-117
-
-
Birch-Machin, M.A.1
Turnbull, D.M.2
-
4
-
-
33644832850
-
Motor neuron disease in a patient with a mitochondrial tRNAIle mutation
-
Borthwick G.M., Taylor R.W., Walls T.J., Tonska K., Taylor G.A., Shaw P.J., Ince P.G., Turnbull D.M. Motor neuron disease in a patient with a mitochondrial tRNAIle mutation. Ann. Neurol. 2006, 59:570-574.
-
(2006)
Ann. Neurol.
, vol.59
, pp. 570-574
-
-
Borthwick, G.M.1
Taylor, R.W.2
Walls, T.J.3
Tonska, K.4
Taylor, G.A.5
Shaw, P.J.6
Ince, P.G.7
Turnbull, D.M.8
-
5
-
-
0036158877
-
Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy
-
Campos Y., Garcia A., Lopez A., Jimenez S., Rubio J.C., Del Hoyo P., Bustos F., Martin M.A., Cabello A., Ricoy J.R., Arenas J. Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy. Muscle Nerve 2002, 25:185-188.
-
(2002)
Muscle Nerve
, vol.25
, pp. 185-188
-
-
Campos, Y.1
Garcia, A.2
Lopez, A.3
Jimenez, S.4
Rubio, J.C.5
Del Hoyo, P.6
Bustos, F.7
Martin, M.A.8
Cabello, A.9
Ricoy, J.R.10
Arenas, J.11
-
6
-
-
0029116474
-
A novel mtDNA point mutation in maternally inherited cardiomyopathy
-
Casali C., Santorelli F.M., D'Amati G., Bernucci P., DeBiase L., DiMauro S. A novel mtDNA point mutation in maternally inherited cardiomyopathy. Biochem. Biophys. Res. Commun. 1995, 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
-
7
-
-
0030664248
-
A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia
-
Chinnery P.F., Johnson M.A., Taylor R.W., Durward W.F., Turnbull D.M. A novel mitochondrial tRNA isoleucine gene mutation causing chronic progressive external ophthalmoplegia. Neurology 1997, 49:1166-1168.
-
(1997)
Neurology
, vol.49
, pp. 1166-1168
-
-
Chinnery, P.F.1
Johnson, M.A.2
Taylor, R.W.3
Durward, W.F.4
Turnbull, D.M.5
-
8
-
-
0036135162
-
Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations
-
Corona P., Lamantea E., Greco M., Carrara F., Agostino A., Guidetti D., Dotti M.T., Mariotti C., Zeviani M. Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations. Ann. Neurol. 2002, 51:118-122.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 118-122
-
-
Corona, P.1
Lamantea, E.2
Greco, M.3
Carrara, F.4
Agostino, A.5
Guidetti, D.6
Dotti, M.T.7
Mariotti, C.8
Zeviani, M.9
-
9
-
-
0031936743
-
Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene
-
Degoul F., Brule H., Cepanec C., Helm M., Marsac C., Leroux J., Giege R., Florentz C. Isoleucylation properties of native human mitochondrial tRNAIle and tRNAIle transcripts. Implications for cardiomyopathy-related point mutations (4269, 4317) in the tRNAIle gene. Hum. Mol. Genet. 1998, 7:347-354.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 347-354
-
-
Degoul, F.1
Brule, H.2
Cepanec, C.3
Helm, M.4
Marsac, C.5
Leroux, J.6
Giege, R.7
Florentz, C.8
-
10
-
-
48249156188
-
Mitochondrial disorders in the nervous system
-
DiMauro S., Schon E.A. Mitochondrial disorders in the nervous system. Annu. Rev. Neurosci. 2008, 31:91-123.
-
(2008)
Annu. Rev. Neurosci.
, vol.31
, pp. 91-123
-
-
DiMauro, S.1
Schon, E.A.2
-
11
-
-
70350707763
-
Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?
-
Elson J.L., Swalwell H., Blakely E.L., McFarland R., Taylor R.W., Turnbull D.M. Pathogenic mitochondrial tRNA mutations - which mutations are inherited and why?. Hum. Mutat. 2009, 30:E984-E992.
-
(2009)
Hum. Mutat.
, vol.30
-
-
Elson, J.L.1
Swalwell, H.2
Blakely, E.L.3
McFarland, R.4
Taylor, R.W.5
Turnbull, D.M.6
-
12
-
-
0032566634
-
Ribozyme processed tRNA transcripts with unfriendly internal promoter for T7 RNA polymerase: production and activity
-
Fechter P., Rudinger J., Giege R., Theobald-Dietrich A. Ribozyme processed tRNA transcripts with unfriendly internal promoter for T7 RNA polymerase: production and activity. FEBS Lett. 1998, 436:99-103.
-
(1998)
FEBS Lett.
, vol.436
, pp. 99-103
-
-
Fechter, P.1
Rudinger, J.2
Giege, R.3
Theobald-Dietrich, A.4
-
13
-
-
0034958234
-
Disease-related versus polymorphic mutations in human mitochondrial tRNAs. Where is the difference?
-
Florentz C., Sissler M. Disease-related versus polymorphic mutations in human mitochondrial tRNAs. Where is the difference?. EMBO Rep. 2001, 2:481-486.
-
(2001)
EMBO Rep.
, vol.2
, pp. 481-486
-
-
Florentz, C.1
Sissler, M.2
-
14
-
-
0031714646
-
A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia
-
Franceschina L., Salani S., Bordoni A., Sciacco M., Napoli L., Comi G.P., Prelle A., Fortunato F., Hadjigeorgiou G.M., Farina E., Bresolin N., D'Angelo M.G., Scarlato G. A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia. J. Neurol. 1998, 245:755-758.
-
(1998)
J. Neurol.
, vol.245
, pp. 755-758
-
-
Franceschina, L.1
Salani, S.2
Bordoni, A.3
Sciacco, M.4
Napoli, L.5
Comi, G.P.6
Prelle, A.7
Fortunato, F.8
Hadjigeorgiou, G.M.9
Farina, E.10
Bresolin, N.11
D'Angelo, M.G.12
Scarlato, G.13
-
15
-
-
0034235229
-
The internal structure of mitochondria
-
Frey T.G., Mannella C.A. The internal structure of mitochondria. Trends Biochem. Sci. 2000, 25:319-324.
-
(2000)
Trends Biochem. Sci.
, vol.25
, pp. 319-324
-
-
Frey, T.G.1
Mannella, C.A.2
-
16
-
-
0028365120
-
Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes
-
Hayashi J., Ohta S., Kagawa Y., Takai D., Miyabayashi S., Tada K., Fukushima H., Inui K., Okada S., Goto Y., et al. Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes. J. Biol. Chem. 1994, 269:19060-19066.
-
(1994)
J. Biol. Chem.
, vol.269
, pp. 19060-19066
-
-
Hayashi, J.1
Ohta, S.2
Kagawa, Y.3
Takai, D.4
Miyabayashi, S.5
Tada, K.6
Fukushima, H.7
Inui, K.8
Okada, S.9
Goto, Y.10
-
17
-
-
0035956482
-
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia
-
Hirano M., DiMauro S. ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. Neurology 2001, 57:2163-2165.
-
(2001)
Neurology
, vol.57
, pp. 2163-2165
-
-
Hirano, M.1
DiMauro, S.2
-
18
-
-
33644875533
-
MtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences
-
Ingman M., Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res. 2006, 34:D749-D751.
-
(2006)
Nucleic Acids Res.
, vol.34
-
-
Ingman, M.1
Gyllensten, U.2
-
19
-
-
0029014248
-
Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study
-
Kaido M., Fujimura H., Taniike M., Yoshikawa H., Toyooka K., Yorifuji S., Inui K., Okada S., Sparaco M., Yanagihara T. Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study. J. Neurol. Sci. 1995, 131:170-176.
-
(1995)
J. Neurol. Sci.
, vol.131
, pp. 170-176
-
-
Kaido, M.1
Fujimura, H.2
Taniike, M.3
Yoshikawa, H.4
Toyooka, K.5
Yorifuji, S.6
Inui, K.7
Okada, S.8
Sparaco, M.9
Yanagihara, T.10
-
20
-
-
0035815744
-
Fragile T-stem in disease-associated human mitochondrial tRNA sensitizes structure to local and distant mutations
-
Kelley S.O., Steinberg S.V., Schimmel P. Fragile T-stem in disease-associated human mitochondrial tRNA sensitizes structure to local and distant mutations. J. Biol. Chem. 2001, 276:10607-10611.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 10607-10611
-
-
Kelley, S.O.1
Steinberg, S.V.2
Schimmel, P.3
-
21
-
-
0032499622
-
A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease
-
Kleinle S., Schneider V., Moosmann P., Brandner S., Krahenbuhl S., Liechti-Gallati S. A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease. Biochem. Biophys. Res. Commun. 1998, 247:112-115.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.247
, pp. 112-115
-
-
Kleinle, S.1
Schneider, V.2
Moosmann, P.3
Brandner, S.4
Krahenbuhl, S.5
Liechti-Gallati, S.6
-
22
-
-
0031429058
-
Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
-
Kleinle S., Wiesmann U., Superti-Furga A., Krahenbuhl S., Boltshauser E., Reichen J., Liechti-Gallati S. Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR. Hum. Genet. 1997, 100:643-650.
-
(1997)
Hum. Genet.
, vol.100
, pp. 643-650
-
-
Kleinle, S.1
Wiesmann, U.2
Superti-Furga, A.3
Krahenbuhl, S.4
Boltshauser, E.5
Reichen, J.6
Liechti-Gallati, S.7
-
23
-
-
0037388028
-
Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3? end processing efficiency in vitro
-
Levinger L., Giege R., Florentz C. Pathology-related substitutions in human mitochondrial tRNA(Ile) reduce precursor 3? end processing efficiency in vitro. Nucleic Acids Res. 2003, 31:1904-1912.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 1904-1912
-
-
Levinger, L.1
Giege, R.2
Florentz, C.3
-
24
-
-
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., James M. In vitro 3'-end endonucleolytic processing defect in a human mitochondrial tRNA(Ser(UCN)) precursor with the U7445C substitution, which causes non-syndromic deafness. Nucleic Acids Res. 2001, 29:4334-4340.
-
(2001)
Nucleic Acids Res.
, vol.29
, pp. 4334-4340
-
-
Levinger, L.1
Jacobs, O.2
James, M.3
-
25
-
-
6044249065
-
Mitochondrial tRNA 3' end metabolism and human disease
-
Levinger L., Morl M., Florentz C. Mitochondrial tRNA 3' end metabolism and human disease. Nucleic Acids Res. 2004, 32:5430-5441.
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 5430-5441
-
-
Levinger, L.1
Morl, M.2
Florentz, C.3
-
26
-
-
0032772838
-
Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease
-
Liechti-Gallati S., Schneider V., Neeser D., Kraemer R. Two buffer PAGE system-based SSCP/HD analysis: a general protocol for rapid and sensitive mutation screening in cystic fibrosis and any other human genetic disease. Eur. J. Hum. Genet. 1999, 7:590-598.
-
(1999)
Eur. J. Hum. Genet.
, vol.7
, pp. 590-598
-
-
Liechti-Gallati, S.1
Schneider, V.2
Neeser, D.3
Kraemer, R.4
-
27
-
-
2342593210
-
Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome
-
Limongelli A., Schaefer J., Jackson S., Invernizzi F., Kirino Y., Suzuki T., Reichmann H., Zeviani M. Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNA(Ile) homoplasmic mutation in the mitochondrial genome. J. Med. Genet. 2004, 41:342-349.
-
(2004)
J. Med. Genet.
, vol.41
, pp. 342-349
-
-
Limongelli, A.1
Schaefer, J.2
Jackson, S.3
Invernizzi, F.4
Kirino, Y.5
Suzuki, T.6
Reichmann, H.7
Zeviani, M.8
-
28
-
-
0033153330
-
New evidence for the genomic tag hypothesis: archaeal CCA-adding enzymes and tDNA substrates
-
discussion 333-334
-
Maizels N., Weiner A.M., Yue D., Shi P.Y. New evidence for the genomic tag hypothesis: archaeal CCA-adding enzymes and tDNA substrates. Biol. Bull. 1999, 196:331-333. discussion 333-334.
-
(1999)
Biol. Bull.
, vol.196
, pp. 331-333
-
-
Maizels, N.1
Weiner, A.M.2
Yue, D.3
Shi, P.Y.4
-
31
-
-
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., Robinson B.H. An additional mitochondrial tRNA(Ile) point mutation (A-to-G at nucleotide 4295) causing hypertrophic cardiomyopathy. Hum. Mutat. 1996, 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
-
32
-
-
12544252580
-
Role of electron microscopy in the diagnosis of mitochondrial cytopathies
-
Mierau G.W., Tyson R.W., Freehauf C.L. Role of electron microscopy in the diagnosis of mitochondrial cytopathies. Pediatr. Dev. Pathol. 2004, 7:637-640.
-
(2004)
Pediatr. Dev. Pathol.
, vol.7
, pp. 637-640
-
-
Mierau, G.W.1
Tyson, R.W.2
Freehauf, C.L.3
-
33
-
-
0020661249
-
Chronic progressive external ophthalmoplegia (CPEO): clinical, morphologic, and biochemical studies
-
Mitsumoto H., Aprille J.R., Wray S.H., Nemni R., Bradley W.G. Chronic progressive external ophthalmoplegia (CPEO): clinical, morphologic, and biochemical studies. Neurology 1983, 33:452-461.
-
(1983)
Neurology
, vol.33
, pp. 452-461
-
-
Mitsumoto, H.1
Aprille, J.R.2
Wray, S.H.3
Nemni, R.4
Bradley, W.G.5
-
34
-
-
0019423857
-
Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs
-
Montoya J., Ojala D., Attardi G. Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs. Nature 1981, 290:465-470.
-
(1981)
Nature
, vol.290
, pp. 465-470
-
-
Montoya, J.1
Ojala, D.2
Attardi, G.3
-
35
-
-
0026468520
-
Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy
-
Obayashi T., Hattori K., Sugiyama S., Tanaka M., Tanaka T., Itoyama S., Deguchi H., Kawamura K., Koga Y., Toshima H., et al. Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy. Am. Heart J. 1992, 124:1263-1269.
-
(1992)
Am. Heart J.
, vol.124
, pp. 1263-1269
-
-
Obayashi, T.1
Hattori, K.2
Sugiyama, S.3
Tanaka, M.4
Tanaka, T.5
Itoyama, S.6
Deguchi, H.7
Kawamura, K.8
Koga, Y.9
Toshima, H.10
-
36
-
-
0019444843
-
TRNA punctuation model of RNA processing in human mitochondria
-
Ojala D., Montoya J., Attardi G. tRNA punctuation model of RNA processing in human mitochondria. Nature 1981, 290:470-474.
-
(1981)
Nature
, vol.290
, pp. 470-474
-
-
Ojala, D.1
Montoya, J.2
Attardi, G.3
-
37
-
-
0025863393
-
Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease
-
Ozawa T., Tanaka M., Ino H., Ohno K., Sano T., Wada Y., Yoneda M., Tanno Y., Miyatake T., Tanaka T., et al. Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease. Biochem. Biophys. Res. Commun. 1991, 176:938-946.
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.176
, pp. 938-946
-
-
Ozawa, T.1
Tanaka, M.2
Ino, H.3
Ohno, K.4
Sano, T.5
Wada, Y.6
Yoneda, M.7
Tanno, Y.8
Miyatake, T.9
Tanaka, T.10
-
38
-
-
0025915472
-
Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy
-
Ozawa T., Tanaka M., Sugiyama S., Ino H., Ohno K., Hattori K., Ohbayashi T., Ito T., Deguchi H., Kawamura K., et al. Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy. Biochem. Biophys. Res. Commun. 1991, 177:518-525.
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.177
, pp. 518-525
-
-
Ozawa, T.1
Tanaka, M.2
Sugiyama, S.3
Ino, H.4
Ohno, K.5
Hattori, K.6
Ohbayashi, T.7
Ito, T.8
Deguchi, H.9
Kawamura, K.10
-
39
-
-
0033026606
-
Nucleotide substitution rate of mammalian mitochondrial genomes
-
Pesole G., Gissi C., De Chirico A., Saccone C. Nucleotide substitution rate of mammalian mitochondrial genomes. J. Mol. Evol. 1999, 48:427-434.
-
(1999)
J. Mol. Evol.
, vol.48
, pp. 427-434
-
-
Pesole, G.1
Gissi, C.2
De Chirico, A.3
Saccone, C.4
-
40
-
-
0029048832
-
Human mitochondrial tRNA processing
-
Rossmanith W., Tullo A., Potuschak T., Karwan R., Sbisa E. Human mitochondrial tRNA processing. J. Biol. Chem. 1995, 270:12885-12891.
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 12885-12891
-
-
Rossmanith, W.1
Tullo, A.2
Potuschak, T.3
Karwan, R.4
Sbisa, E.5
-
41
-
-
0027931039
-
Biochemical and molecular investigations in respiratory chain deficiencies
-
Rustin P., Chretien D., Bourgeron T., Gerard B., Rotig A., Saudubray J.M., Munnich A. Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta 1994, 228:35-51.
-
(1994)
Clin. Chim. Acta
, vol.228
, pp. 35-51
-
-
Rustin, P.1
Chretien, D.2
Bourgeron, T.3
Gerard, B.4
Rotig, A.5
Saudubray, J.M.6
Munnich, A.7
-
42
-
-
0028786838
-
A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy
-
Santorelli F.M., Mak S.C., Vazquez-Acevedo M., Gonzalez-Astiazaran A., Ridaura-Sanz C., Gonzalez-Halphen D., DiMauro S. A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy. Biochem. Biophys. Res. Commun. 1995, 216:835-840.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.216
, pp. 835-840
-
-
Santorelli, F.M.1
Mak, S.C.2
Vazquez-Acevedo, M.3
Gonzalez-Astiazaran, A.4
Ridaura-Sanz, C.5
Gonzalez-Halphen, D.6
DiMauro, S.7
-
43
-
-
0014578265
-
The kinetic properties of citrate synthase from rat liver mitochondria
-
Shepherd D., Garland P.B. The kinetic properties of citrate synthase from rat liver mitochondria. Biochem. J. 1969, 114:597-610.
-
(1969)
Biochem. J.
, vol.114
, pp. 597-610
-
-
Shepherd, D.1
Garland, P.B.2
-
44
-
-
78650492862
-
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia
-
Sihem S., Chebel S., Mancuso M., Petrozzi L., Siciliano G., Frihayed M., Hentati F., Amouri R. A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. J. Neurol. Sci. 2010, 300:187-190.
-
(2010)
J. Neurol. Sci.
, vol.300
, pp. 187-190
-
-
Sihem, S.1
Chebel, S.2
Mancuso, M.3
Petrozzi, L.4
Siciliano, G.5
Frihayed, M.6
Hentati, F.7
Amouri, R.8
-
45
-
-
0029979139
-
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophthalmoplegia
-
Silvestri G., Servidei S., Rana M., Ricci E., Spinazzola A., Paris E., Tonali P. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophthalmoplegia. Biochem. Biophys. Res. Commun. 1996, 220:623-627.
-
(1996)
Biochem. Biophys. Res. Commun.
, vol.220
, pp. 623-627
-
-
Silvestri, G.1
Servidei, S.2
Rana, M.3
Ricci, E.4
Spinazzola, A.5
Paris, E.6
Tonali, P.7
-
46
-
-
58149333245
-
Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk
-
Spinazzola A., Zeviani M. Disorders from perturbations of nuclear-mitochondrial intergenomic cross-talk. J. Intern. Med. 2009, 265:174-192.
-
(2009)
J. Intern. Med.
, vol.265
, pp. 174-192
-
-
Spinazzola, A.1
Zeviani, M.2
-
47
-
-
0030879372
-
Mitochondrial DNA and disease
-
Suomalainen A. Mitochondrial DNA and disease. Ann. Med. 1997, 29:235-246.
-
(1997)
Ann. Med.
, vol.29
, pp. 235-246
-
-
Suomalainen, A.1
-
48
-
-
0025260002
-
Mitochondrial mutation in fatal infantile cardiomyopathy
-
Tanaka M., Ino H., Ohno K., Hattori K., Sato W., Ozawa T., Tanaka T., Itoyama S. Mitochondrial mutation in fatal infantile cardiomyopathy. Lancet 1990, 336:1452.
-
(1990)
Lancet
, vol.336
, pp. 1452
-
-
Tanaka, M.1
Ino, H.2
Ohno, K.3
Hattori, K.4
Sato, W.5
Ozawa, T.6
Tanaka, T.7
Itoyama, S.8
-
49
-
-
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., et al. Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy. Biochem. Biophys. Res. Commun. 1992, 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
-
50
-
-
0032481279
-
A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis
-
Taylor R.W., Chinnery P.F., Bates M.J., Jackson M.J., Johnson M.A., Andrews R.M., Turnbull D.M. A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis. Biochem. Biophys. Res. Commun. 1998, 243:47-51.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.243
, pp. 47-51
-
-
Taylor, R.W.1
Chinnery, P.F.2
Bates, M.J.3
Jackson, M.J.4
Johnson, M.A.5
Andrews, R.M.6
Turnbull, D.M.7
-
51
-
-
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., Hirano M., Lightowlers R.N., DiMauro S., Turnbull D.M. A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 2003, 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
Hirano, M.11
Lightowlers, R.N.12
DiMauro, S.13
Turnbull, D.M.14
-
52
-
-
0036787013
-
A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy
-
Taylor R.W., Schaefer A.M., McFarland R., Maddison P., Turnbull D.M. A novel mitochondrial DNA tRNA(Ile) (A4267G) mutation in a sporadic patient with mitochondrial myopathy. Neuromuscul. Disord. 2002, 12:659-664.
-
(2002)
Neuromuscul. Disord.
, vol.12
, pp. 659-664
-
-
Taylor, R.W.1
Schaefer, A.M.2
McFarland, R.3
Maddison, P.4
Turnbull, D.M.5
-
53
-
-
73249151195
-
Mitochondrial DNA mutations and human disease
-
Tuppen H.A., Blakely E.L., Turnbull D.M., Taylor R.W. Mitochondrial DNA mutations and human disease. Biochim. Biophys. Acta 2010, 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
-
54
-
-
0036260961
-
Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy
-
Valentino M.L., Avoni P., Barboni P., Pallotti F., Rengo C., Torroni A., Bellan M., Baruzzi A., Carelli V. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy. Ann. Neurol. 2002, 51:774-778.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 774-778
-
-
Valentino, M.L.1
Avoni, P.2
Barboni, P.3
Pallotti, F.4
Rengo, C.5
Torroni, A.6
Bellan, M.7
Baruzzi, A.8
Carelli, V.9
-
55
-
-
8444228909
-
A cluster of metabolic defects caused by mutation in a mitochondrial tRNA
-
Wilson F.H., Hariri A., Farhi A., Zhao H., Petersen K.F., Toka H.R., Nelson-Williams C., Raja K.M., Kashgarian M., Shulman G.I., Scheinman S.J., Lifton R.P. A cluster of metabolic defects caused by mutation in a mitochondrial tRNA. Science 2004, 306:1190-1194.
-
(2004)
Science
, vol.306
, pp. 1190-1194
-
-
Wilson, F.H.1
Hariri, A.2
Farhi, A.3
Zhao, H.4
Petersen, K.F.5
Toka, H.R.6
Nelson-Williams, C.7
Raja, K.M.8
Kashgarian, M.9
Shulman, G.I.10
Scheinman, S.J.11
Lifton, R.P.12
-
56
-
-
33645234546
-
Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure
-
Yan H., Zareen N., Levinger L. Naturally occurring mutations in human mitochondrial pre-tRNASer(UCN) can affect the transfer ribonuclease Z cleavage site, processing kinetics, and substrate secondary structure. J. Biol. Chem. 2006, 281:3926-3935.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 3926-3935
-
-
Yan, H.1
Zareen, N.2
Levinger, L.3
-
57
-
-
0030826779
-
Multiple mitochondrial tRNA(Leu[UUR]) mutations associated with infantile myopathy
-
Zanssen S., Molnar M., Schroder J.M., Buse G. Multiple mitochondrial tRNA(Leu[UUR]) mutations associated with infantile myopathy. Mol. Cell. Biochem. 1997, 174:231-236.
-
(1997)
Mol. Cell. Biochem.
, vol.174
, pp. 231-236
-
-
Zanssen, S.1
Molnar, M.2
Schroder, J.M.3
Buse, G.4
-
58
-
-
0042121256
-
Mfold web server for nucleic acid folding and hybridization prediction
-
Zuker M. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res. 2003, 31:3406-3415.
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3406-3415
-
-
Zuker, M.1
|