-
1
-
-
0029587469
-
Molecular genetic aspects of human mitochondrial disorders
-
Larsson, N.G. and Clayton, D.A. (1995) Molecular genetic aspects of human mitochondrial disorders. Annu. Rev. Genet., 29, 151-178.
-
(1995)
Annu. Rev. Genet.
, vol.29
, pp. 151-178
-
-
Larsson, N.G.1
Clayton, D.A.2
-
2
-
-
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
-
3
-
-
0026457825
-
Marked replicative advantage of human mtdna carrying a point mutation that causes the MELAS encephalomyopathy
-
Yoneda, M., Chomyn, A., Martinuzzi, A., Hurko, O. and Attardi, G. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. Proc. Natl Acad. Sci. USA. 89, 11164-11168.
-
(1992)
Proc. Natl Acad. Sci. USA.
, vol.89
, pp. 11164-11168
-
-
Yoneda, M.1
Chomyn, A.2
Martinuzzi, A.3
Hurko, O.4
Attardi, G.5
-
4
-
-
0027327280
-
Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures
-
Bourgeron, T., Chretien, D., Rotig, A., Munnich, A. and Rustin, P. (1993) Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures. J. Biol. Chem., 268, 19369-19376.
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 19369-19376
-
-
Bourgeron, T.1
Chretien, D.2
Rotig, A.3
Munnich, A.4
Rustin, P.5
-
5
-
-
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
-
6
-
-
0030811485
-
Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: Segregation, maintenance and recombination dependent upon nuclear background
-
Holt, I.J., Dunbar, D.R. and Jacobs, H.T. (1997) Behaviour of a population of partially duplicated mitochondrial DNA molecules in cell culture: segregation, maintenance and recombination dependent upon nuclear background. Hum. Mol. Genet., 6, 1251-1260.
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1251-1260
-
-
Holt, I.J.1
Dunbar, D.R.2
Jacobs, H.T.3
-
7
-
-
0030910828
-
Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes
-
Blok, R.B., Gook, D.A., Thorburn, D.R. and Dahl, H.H. (1997) Skewed segregation of the mtDNA nt 8993 (T→G) mutation in human oocytes. Am. J. Hum. Genet., 60, 1495-1501.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1495-1501
-
-
Blok, R.B.1
Gook, D.A.2
Thorburn, D.R.3
Dahl, H.H.4
-
8
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt, I.J., Harding, A.E., Petty, R.K. and Morgan-Hughes, J.A. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet., 46, 428-433.
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 428-433
-
-
Holt, I.J.1
Harding, A.E.2
Petty, R.K.3
Morgan-Hughes, J.A.4
-
9
-
-
0026566850
-
Heteroplasmic mtDNA mutation (T→G) at 8993 can cause leigh disease when the percentage of abnormal mtDNA is high
-
Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J.T., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R. and Robinson, B.H. (1992) Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am. J. Hum. Genet., 50, 852-858.
-
(1992)
Am. J. Hum. Genet.
, vol.50
, pp. 852-858
-
-
Tatuch, Y.1
Christodoulou, J.2
Feigenbaum, A.3
Clarke, J.T.4
Wherret, J.S.C.5
Rudd, N.6
Petrova-Benedict, R.7
Robinson, B.H.8
-
10
-
-
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, ST., 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
-
11
-
-
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
-
12
-
-
0028258728
-
Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA (Leu (UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy
-
Mariotti, C., Tiranti, V., Carrara, F., Dallapiccola, B., DiDonato, S. and Zeviani, M. (1994) Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNA (Leu (UUR)) mutation associated with maternally inherited myopathy and cardiomyopathy. J. Clin. Invest., 93, 1102-1107.
-
(1994)
J. Clin. Invest.
, vol.93
, pp. 1102-1107
-
-
Mariotti, C.1
Tiranti, V.2
Carrara, F.3
Dallapiccola, B.4
Didonato, S.5
Zeviani, M.6
-
13
-
-
0027936218
-
Cytoplasmic transfer of the mtDNA n1 8993 T→G (ATP6) point mutation associated with leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio
-
Trounce, I., Neill, S. and Wallace, D.C. (1994) Cytoplasmic transfer of the mtDNA n1 8993 T→G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc. Natl Acad. Sci. USA, 91, 8334-8338.
-
(1994)
Proc. Natl Acad. Sci. USA
, vol.91
, pp. 8334-8338
-
-
Trounce, I.1
Neill, S.2
Wallace, D.C.3
-
14
-
-
0021966704
-
Ethidium bromide-induced loss of mitochondrial DNA from primary chicken embryo fibroblasts
-
Desjardins, P., Frost, E. and Morais, R. (1985) Ethidium bromide-induced loss of mitochondrial DNA from primary chicken embryo fibroblasts. Mol Cell. Biol., 5, 1163-1169.
-
(1985)
Mol Cell. Biol.
, vol.5
, pp. 1163-1169
-
-
Desjardins, P.1
Frost, E.2
Morais, R.3
-
15
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation with exogenous mitochondria by complementation
-
King, M.P. and Attardi, G. (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science, 246, 500-503.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
16
-
-
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
-
17
-
-
0022413838
-
Mitochondrial DNA-like sequences in the human nuclear genome. Characterization and implications in the evolution of mitochondrial DNA
-
Fukuda, M., Wakasugi, S., Tsuzuki, T., Nomiyama, H., Shimada, K. and Miyata, T. (1985) Mitochondrial DNA-like sequences in the human nuclear genome. Characterization and implications in the evolution of mitochondrial DNA. J. Mol. Biol., 186, 257-266.
-
(1985)
J. Mol. Biol.
, vol.186
, pp. 257-266
-
-
Fukuda, M.1
Wakasugi, S.2
Tsuzuki, T.3
Nomiyama, H.4
Shimada, K.M.T.5
-
18
-
-
0032499526
-
Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations
-
Parfait, B., Rustin, P., Munnich, A. and Rotig, A. (1998) Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations. Biochem. Biophys. Res. Commun., 247, 57-59.
-
(1998)
Biochem. Biophys. Res. Commun.
, vol.247
, pp. 57-59
-
-
Parfait, B.1
Rustin, P.2
Munnich, A.3
Rotig, A.4
-
19
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson, S., Bankier, A.T., Barrell, B.C., 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. and Young, I.G. (1981) Sequence and organization of the human mitochondrial genome. Nature, 290, 457-465.
-
(1981)
Nature
, vol.290
, pp. 457-465
-
-
Anderson, S.1
Bankier, A.T.2
Barrell, B.C.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
-
20
-
-
0026015896
-
MtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
-
Moraes, C.T., Shanske, S., Tritschler, H.J., Aprille, J.R., Andreetta, F., Bonilla, E., Schon, E.A. and DiMauro, S. (1991) mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am. J. Hum. Genet., 48, 492-501.
-
(1991)
Am. J. Hum. Genet.
, vol.48
, pp. 492-501
-
-
Moraes, C.T.1
Shanske, S.2
Tritschler, H.J.3
Aprille, J.R.4
Andreetta, F.5
Bonilla, E.6
Schon, E.A.7
DiMauro, S.8
-
21
-
-
0031930319
-
Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice
-
Larsson, N.G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G.S. and Clayton, D.A. (1998) Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nature Genet., 18, 231-236.
-
(1998)
Nature Genet.
, vol.18
, pp. 231-236
-
-
Larsson, N.G.1
Wang, J.2
Wilhelmsson, H.3
Oldfors, A.4
Rustin, P.5
Lewandoski, M.6
Barsh, G.S.7
Clayton, D.A.8
-
22
-
-
0027496432
-
Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
-
Bodnar, A.G., Cooper, J.M., Holt, I.J., Leonard, J.V. and Schapira, A.H. (1993) Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion. Am. J. Hum. Genet., 53, 663-669.
-
(1993)
Am. J. Hum. Genet.
, vol.53
, pp. 663-669
-
-
Bodnar, A.G.1
Cooper, J.M.2
Holt, I.J.3
Leonard, J.V.4
Schapira, A.H.5
-
23
-
-
0025739379
-
Simplified mammalian DNA isolation procedure
-
Laird, P.W., Zijderveld, A., Linders, K., Rudnicki, M.A., Jaenisch, R. and Berns, A. (1991) Simplified mammalian DNA isolation procedure. Nucleic Acids Res., 19, 4293.
-
(1991)
Nucleic Acids Res.
, vol.19
, pp. 4293
-
-
Laird, P.W.1
Zijderveld, A.2
Linders, K.3
Rudnicki, M.A.4
Jaenisch, R.5
Berns, A.6
-
24
-
-
0004136246
-
-
Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY
-
Sambrook. J., Fritsch, E.F. and Maniatis, T. (1990) Molecular Cloning: A Laboratory Manual. 2nd. edn. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY.
-
(1990)
Molecular Cloning: A Laboratory Manual. 2nd. Edn.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
|