-
1
-
-
0021143782
-
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A distinctive clinical syndrome
-
Pavlakis, S.G., Philips, P.C., DiMauro, S., De Vivo, D.C. & Rowland, L.P. (1984) Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome. Annals Neurol. 16, 481-488.
-
(1984)
Annals Neurol.
, vol.16
, pp. 481-488
-
-
Pavlakis, S.G.1
Philips, P.C.2
DiMauro, S.3
De Vivo, D.C.4
Rowland, L.P.5
-
2
-
-
0025666322
-
leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
leu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 348, 651-653.
-
(1990)
Nature
, vol.348
, pp. 651-653
-
-
Goto, Y.J.1
Nonaka, I.2
Horai, S.3
-
3
-
-
0023883150
-
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
-
Holt, I.J., Harding, A.E. & 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
-
4
-
-
0025267548
-
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
-
Holt, I.J., Harding, A E., Petty, R.K.H. & Morgan-Hughes JA. (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.H.3
Morgan-Hughes, J.A.4
-
6
-
-
0024448458
-
Human cells lacking mtDNA: Repopulation of exogenous mitochondria by complementation
-
King, M.P. & Attardi, G. (1989) Human cells lacking mtDNA: repopulation of exogenous mitochondria by complementation. Science 246, 500-503.
-
(1989)
Science
, vol.246
, pp. 500-503
-
-
King, M.P.1
Attardi, G.2
-
7
-
-
0026573082
-
Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes
-
King, M P., Koga, Y., Davidson, M. & Schon, E. (1992) Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like 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.4
-
8
-
-
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. & 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
-
9
-
-
0026457825
-
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalopathy
-
Yoneda, M., Chomyn, A., Martinuzzi, A., Hurko, O. & Attardi G. (1992) Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalopathy 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
-
10
-
-
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. & 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
-
11
-
-
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., Scarlato, G. & 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.4
Scarlato, G.5
Attardi, G.6
-
12
-
-
0028238418
-
Platelet mediated transformation of mtDNA-less human cells
-
Chomyn A., Lai, S.T., Shakeley, R., Bresolin, N., Scarlato, G. & Attardi, G. (1994) Platelet mediated transformation of mtDNA-less human cells. Am. J. Hum. Genet. 54, 966-974.
-
(1994)
Am. J. Hum. Genet.
, vol.54
, pp. 966-974
-
-
Chomyn, A.1
Lai, S.T.2
Shakeley, R.3
Bresolin, N.4
Scarlato, G.5
Attardi, G.6
-
14
-
-
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.I. & 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.I.5
Nonaka, I.6
-
15
-
-
0026681490
-
MELAS: Clinical features, biochemistry and molecular genetics
-
Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C.T., Silvestri, G., Hirano, M., Simonetu, S., Angellini, C., Donati, M.A., Garcia, C., Martinuzzi, A., Mosewich, R., Servidei, S , Zammarchi, E., Bonilla, E., DeVivo, D.C., Rowland, L P., Schon, E A. & DiMauro, S. (1992) MELAS: Clinical features, biochemistry and molecular genetics. Annals Neurol. 31, 391-398.
-
(1992)
Annals Neurol.
, vol.31
, pp. 391-398
-
-
Ciafaloni, E.1
Ricci, E.2
Shanske, S.3
Moraes, C.T.4
Silvestri, G.5
Hirano, M.6
Simonetu, S.7
Angellini, C.8
Donati, M.A.9
Garcia, C.10
Martinuzzi, A.11
Mosewich, R.12
Servidei, S.13
Zammarchi, E.14
Bonilla, E.15
DeVivo, D.C.16
Rowland, L.P.17
Schon, E.A.18
DiMauro, S.19
-
16
-
-
0023715119
-
A tridecamer DNA sequence supports human mitochondrial RNA 3′-end formation in vitro
-
Christianson, T.M. & Clayton, D.A. (1988) A tridecamer DNA sequence supports human mitochondrial RNA 3′-end formation in vitro. Mol. Cell Biol. 8, 4502-4509.
-
(1988)
Mol. Cell Biol.
, vol.8
, pp. 4502-4509
-
-
Christianson, T.M.1
Clayton, D.A.2
-
17
-
-
0025845270
-
Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies
-
Hess, J.F., Parisi, M.A., Bennett, J.L. & Clayton, D.A. (1991) Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 351, 236-239.
-
(1991)
Nature
, vol.351
, pp. 236-239
-
-
Hess, J.F.1
Parisi, M.A.2
Bennett, J.L.3
Clayton, D.A.4
-
18
-
-
0026682616
-
A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies
-
Hammans, S.R., Sweeney, M.G., Wicks, D.A.G., Morgan-Hughes, J.A. & Harding, A.E. (1992) A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies. Brain 115, 343-365.
-
(1992)
Brain
, vol.115
, pp. 343-365
-
-
Hammans, S.R.1
Sweeney, M.G.2
Wicks, D.A.G.3
Morgan-Hughes, J.A.4
Harding, A.E.5
-
19
-
-
0020460870
-
Sites of inhibition of mitochondrial electron transport in macrophage-injured neoplastic cells
-
Granger, D.L. & Lehninger, A.L. (1982) Sites of inhibition of mitochondrial electron transport in macrophage-injured neoplastic cells. J.Cell Biol. 95, 527-535.
-
(1982)
J.Cell Biol.
, vol.95
, pp. 527-535
-
-
Granger, D.L.1
Lehninger, A.L.2
-
20
-
-
71849104860
-
Protein measurement with Folin phenol reagent
-
Lowry, O.H., Rosebrough, N.H., Farr, A.L. & Randall, R.J. (1951) Protein measurement with Folin phenol reagent. J. Biol. Chem 193, 265-275.
-
(1951)
J. Biol. Chem
, vol.193
, pp. 265-275
-
-
Lowry, O.H.1
Rosebrough, N.H.2
Farr, A.L.3
Randall, R.J.4
-
21
-
-
2042432480
-
Cytochrome oxidase from beef heart mitochondria
-
Wharton, D.C. & Tzagaloff, A. (1967) Cytochrome oxidase from beef heart mitochondria. Methods Enzymol. 10, 245-250.
-
(1967)
Methods Enzymol.
, vol.10
, pp. 245-250
-
-
Wharton, D.C.1
Tzagaloff, A.2
-
22
-
-
0014059118
-
An electron transport system associated with the outer membrane of liver mitochondria
-
Sottocasa, G.L., Kuylenstiema, B., Ernster, L. & Bergstrand A. (1967) An electron transport system associated with the outer membrane of liver mitochondria J. Cell Biol. 32, 415-438.
-
(1967)
J. Cell Biol.
, vol.32
, pp. 415-438
-
-
Sottocasa, G.L.1
Kuylenstiema, B.2
Ernster, L.3
Bergstrand, A.4
-
23
-
-
77957010982
-
Citrate synthase
-
Srere, P.A. (1969) Citrate synthase. Methods Enzymol. 13, 3-11.
-
(1969)
Methods Enzymol.
, vol.13
, pp. 3-11
-
-
Srere, P.A.1
-
24
-
-
0000831016
-
Determination with LDH, GPT, and NAD
-
H.U. Bergmeyer, editor, Verlag Chemie, Weinham; Academic Press Inc. New York
-
Noll, F. (1974) Determination with LDH, GPT, and NAD. In Methods in enzymatic analysis. Vol. 3 H.U. Bergmeyer, editor, Verlag Chemie, Weinham; Academic Press Inc. New York 1475-1479.
-
(1974)
Methods in Enzymatic Analysis
, vol.3
, pp. 1475-1479
-
-
Noll, F.1
-
25
-
-
0017184389
-
A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding
-
Bradford, M.M. (1976) A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding. Anal. Biochem. 72, 248-254
-
(1976)
Anal. Biochem.
, vol.72
, pp. 248-254
-
-
Bradford, M.M.1
-
26
-
-
34347367738
-
Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA
-
in press
-
Mariotti, C., Savarese, N., Suomalainen, A., Rimoldi, M., Comi, G., Prelle, A., Antozzi, C., Servidei, S., Jarre, L., Didonato, S. & Zeviani, M. Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA J. Neurology (in press)
-
J. Neurology
-
-
Mariotti, C.1
Savarese, N.2
Suomalainen, A.3
Rimoldi, M.4
Comi, G.5
Prelle, A.6
Antozzi, C.7
Servidei, S.8
Jarre, L.9
Didonato, S.10
Zeviani, M.11
-
27
-
-
0024398752
-
Detection of deleted mitochondrial genomes in cytochrome c oxidase deficient muscle fibres of a patient with Kearns-Sayre syndrome
-
Mita, S., Schmidt, B., Schon, E.A., DiMauro, S. & Bonilla, E. (1989) Detection of deleted mitochondrial genomes in cytochrome c oxidase deficient muscle fibres of a patient with Kearns-Sayre syndrome. Proc. Natl. Acad. Sci. USA 86, 9509-9513.
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 9509-9513
-
-
Mita, S.1
Schmidt, B.2
Schon, E.A.3
DiMauro, S.4
Bonilla, E.5
-
28
-
-
0018066282
-
Mammalian succinate dehydrogenase
-
Ackrell, B.A., Kearney, E.B. & Singer, T.P. (1978) Mammalian succinate dehydrogenase. Methods Enzymol. 53, 466-470.
-
(1978)
Methods Enzymol.
, vol.53
, pp. 466-470
-
-
Ackrell, B.A.1
Kearney, E.B.2
Singer, T.P.3
-
29
-
-
0027282274
-
Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA
-
Bindoff, L.A., Howell, N., Poulton, J., McCullogh, D.A., Morten, K.J., Lightowlers, R.N., Turnbull, D.M., & Weber, K. (1993) Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. J. Biol. Chem. 268, 19559-19564
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 19559-19564
-
-
Bindoff, L.A.1
Howell, N.2
Poulton, J.3
McCullogh, D.A.4
Morten, K.J.5
Lightowlers, R.N.6
Turnbull, D.M.7
Weber, K.8
-
31
-
-
0024798264
-
Mitochondrial myopathies: Clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA
-
Holt, I.J., Harding, A.E., Cooper, J.M., Schapira, A.H.V., Toscano, A., Clark, J.B. & Morgan-Hughes, J.A. (1989) Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Annals Neurol. 26, 699-708.
-
(1989)
Annals Neurol.
, vol.26
, pp. 699-708
-
-
Holt, I.J.1
Harding, A.E.2
Cooper, J.M.3
Schapira, A.H.V.4
Toscano, A.5
Clark, J.B.6
Morgan-Hughes, J.A.7
-
32
-
-
0026316024
-
Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy
-
Hammans, S.R., Sweeney, M.G., Holt, I.J., Cooper, J.M., Toscano, A., Clark, J.B., Morgan-Hughes, J.A. & Harding, A.E. (1992) Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy. J Neurol. Sci. 107, 87-92.
-
(1992)
J Neurol. Sci.
, vol.107
, pp. 87-92
-
-
Hammans, S.R.1
Sweeney, M.G.2
Holt, I.J.3
Cooper, J.M.4
Toscano, A.5
Clark, J.B.6
Morgan-Hughes, J.A.7
Harding, A.E.8
|