-
1
-
-
0042171483
-
Inherited mitochondrial DNA depletion
-
Elpeleg O. Inherited mitochondrial DNA depletion. Pediatr. Res. 54:2003;153-159.
-
(2003)
Pediatr. Res.
, vol.54
, pp. 153-159
-
-
Elpeleg, O.1
-
2
-
-
0036019510
-
Depletion of the other genome - Mitochondrial DNA depletion syndromes in humans
-
Elpeleg O., Mandel H., Saada A. Depletion of the other genome - mitochondrial DNA depletion syndromes in humans. J. Mol. Med. 80:2002;389-396.
-
(2002)
J. Mol. Med.
, vol.80
, pp. 389-396
-
-
Elpeleg, O.1
Mandel, H.2
Saada, A.3
-
3
-
-
0020421383
-
Unusual compartmentation of precursors for nuclear and mitochondrial DNA in mouse L cells
-
Bestwick R.K., Mathews C.K. Unusual compartmentation of precursors for nuclear and mitochondrial DNA in mouse L cells. J. Biol. Chem. 257:1982;9305-9308.
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 9305-9308
-
-
Bestwick, R.K.1
Mathews, C.K.2
-
4
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., Elpeleg O. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy. Nat. Genet. 29:2001;342-344.
-
(2001)
Nat. Genet.
, vol.29
, pp. 342-344
-
-
Saada, A.1
Shaag, A.2
Mandel, H.3
Nevo, Y.4
Eriksson, S.5
Elpeleg, O.6
-
5
-
-
0037159255
-
Mitochondrial DNA depletion: Mutations in thymidine kinase gene with myopathy and SMA
-
Mancuso M., Salivati L., Sacconi S., Otaegui D., Camano P., Marina A., Bacman S., Moraes C.T., Carlo J.R., Garcia M., Garcia-Alvarez M., Monzon L., Naini A.B., Hirano M., Bonilla E., Taratuto A.L., DiMauro S., Vu T.H. Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA. Neurology. 59:2002;1197-1202.
-
(2002)
Neurology
, vol.59
, pp. 1197-1202
-
-
Mancuso, M.1
Salivati, L.2
Sacconi, S.3
Otaegui, D.4
Camano, P.5
Marina, A.6
Bacman, S.7
Moraes, C.T.8
Carlo, J.R.9
Garcia, M.10
Garcia-Alvarez, M.11
Monzon, L.12
Naini, A.B.13
Hirano, M.14
Bonilla, E.15
Taratuto, A.L.16
DiMauro, S.17
Vu, T.H.18
-
6
-
-
0037390960
-
Mutation analysis in 16 patients with mtDNA depletion
-
Carrozzo R., Borenstein B., Lucioli S., Campos Y., de la Pena P., Petit N., Dionici-Vici C., Vilarinho L., Rizza T., Bertini E., Garesse R., Santorelli F.M., Arenas J. Mutation analysis in 16 patients with mtDNA depletion. Hum. Mutat. 21:2003;453-454.
-
(2003)
Hum. Mutat.
, vol.21
, pp. 453-454
-
-
Carrozzo, R.1
Borenstein, B.2
Lucioli, S.3
Campos, Y.4
De La Pena, P.5
Petit, N.6
Dionici-Vici, C.7
Vilarinho, L.8
Rizza, T.9
Bertini, E.10
Garesse, R.11
Santorelli, F.M.12
Arenas, J.13
-
7
-
-
0037426409
-
Reversion of mtDNA depletion in a patient with TK2 deficiency
-
Vila M.R., Segoviva-Silvestre T., Gamez J., Marina A., Naini A.B., Meseguer A., Lombes A., Bonilla E., DiMauro S., Hirano M., Andreu A.L. Reversion of mtDNA depletion in a patient with TK2 deficiency. Neurology. 60:2003;1203-1205.
-
(2003)
Neurology
, vol.60
, pp. 1203-1205
-
-
Vila, M.R.1
Segoviva-Silvestre, T.2
Gamez, J.3
Marina, A.4
Naini, A.B.5
Meseguer, A.6
Lombes, A.7
Bonilla, E.8
DiMauro, S.9
Hirano, M.10
Andreu, A.L.11
-
8
-
-
0029162556
-
Mammalian deoxyribonucleoside kinases
-
Arner E.S.J., Eriksson S. Mammalian deoxyribonucleoside kinases. Pharmacol. Ther. 67:1959;155-186.
-
(1959)
Pharmacol. Ther.
, vol.67
, pp. 155-186
-
-
Arner, E.S.J.1
Eriksson, S.2
-
9
-
-
0038183839
-
MtDNA depletion myopathy: Elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency
-
Saada A., Shaag A., Elpeleg O. mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency. Mol. Genet. Metab. 79:2003;791-795.
-
(2003)
Mol. Genet. Metab.
, vol.79
, pp. 791-795
-
-
Saada, A.1
Shaag, A.2
Elpeleg, O.3
-
10
-
-
0020445220
-
Selective expansion of mitochondrial nucleoside triphosphate pools in antimetabolite-treated HeLa cells
-
Bestwick R.K., Moffet G.L., Mathews C.K. Selective expansion of mitochondrial nucleoside triphosphate pools in antimetabolite-treated HeLa cells. J. Biol. Chem. 257:1982;9300-9304.
-
(1982)
J. Biol. Chem.
, vol.257
, pp. 9300-9304
-
-
Bestwick, R.K.1
Moffet, G.L.2
Mathews, C.K.3
-
11
-
-
0037144486
-
′ -deoxyribonucleotidase. Overproduction in cultured cells and functional aspects
-
′ -deoxyribonucleotidase. Overproduction in cultured cells and functional aspects J. Biol. Chem. 277:2002;35080-35087.
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 35080-35087
-
-
Gallinaro, L.1
Crovatto, K.2
Rampazzo, C.3
Pontarin, G.4
Ferraro, P.5
Milanesi, E.6
Reichard, P.7
Bianchi, V.8
-
12
-
-
0037470065
-
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochochondrial DNA depletion myopathy
-
Wang L., Saada A., Eriksson S. Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochochondrial DNA depletion myopathy. J. Biol. Chem. 278:2003;6963-6968.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 6963-6968
-
-
Wang, L.1
Saada, A.2
Eriksson, S.3
-
13
-
-
77957010982
-
Citrate synthase
-
Srere P.A. Citrate synthase. Methods Enzymol. 13:1969;3-11.
-
(1969)
Methods Enzymol.
, vol.13
, pp. 3-11
-
-
Srere, P.A.1
-
14
-
-
78651001645
-
A microspectrophotometric method for the determination of cytochrome oxidase
-
Cooperstein S.J., Lazarow A. A microspectrophotometric method for the determination of cytochrome oxidase. J. Biol. Chem. 189:1959;665-670.
-
(1959)
J. Biol. Chem.
, vol.189
, pp. 665-670
-
-
Cooperstein, S.J.1
Lazarow, A.2
-
15
-
-
0024402491
-
Enzymatic assay for deoxyribonucleoside triphosphates using synthetic oligonucleotides as template primers
-
Sherman P.A., Fyfe J.A. Enzymatic assay for deoxyribonucleoside triphosphates using synthetic oligonucleotides as template primers. Anal. Biochem. 180:1989;222-226.
-
(1989)
Anal. Biochem.
, vol.180
, pp. 222-226
-
-
Sherman, P.A.1
Fyfe, J.A.2
-
16
-
-
0033613865
-
Thymidine phosphorylase gene mutations in MNGIE, a human mitochondria disorder
-
Nishino I., Spinazzola A., Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondria disorder. Science. 283:1999;689-692.
-
(1999)
Science
, vol.283
, pp. 689-692
-
-
Nishino, I.1
Spinazzola, A.2
Hirano, M.3
-
17
-
-
0035183256
-
The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
-
Mandel H., Szargel R., Labay V., Elpeleg O., Saada A., Shalata A., Anbinder Y., Berkowitz D., Hartman C., Barak M., Eriksson S., Cohen N. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat. Genet. 29:2001;337-341.
-
(2001)
Nat. Genet.
, vol.29
, pp. 337-341
-
-
Mandel, H.1
Szargel, R.2
Labay, V.3
Elpeleg, O.4
Saada, A.5
Shalata, A.6
Anbinder, Y.7
Berkowitz, D.8
Hartman, C.9
Barak, M.10
Eriksson, S.11
Cohen, N.12
-
18
-
-
0030974472
-
Cell cycle-dependent metabolism of pyrimidine deoxynucleoside triphosphates in CEM cells
-
Bianchi V., Borella S., Rampazzo C., Ferraro P., Calderazzo F., Bianchi L.C., Skog S., Reichard P. Cell cycle-dependent metabolism of pyrimidine deoxynucleoside triphosphates in CEM cells. J. Biol. Chem. 272:1997;16118-16124.
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 16118-16124
-
-
Bianchi, V.1
Borella, S.2
Rampazzo, C.3
Ferraro, P.4
Calderazzo, F.5
Bianchi, L.C.6
Skog, S.7
Reichard, P.8
-
19
-
-
0034686409
-
Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice
-
Arpaia E., Benveniste P., Di Cristofano A., Gu Y., Dalal I., Kelly S., Hershfield M., Pandolfi P.P., Roifman C.M., Cohen A. Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice. J. Exp. Med. 191:2000;2197-2208.
-
(2000)
J. Exp. Med.
, vol.191
, pp. 2197-2208
-
-
Arpaia, E.1
Benveniste, P.2
Di Cristofano, A.3
Gu, Y.4
Dalal, I.5
Kelly, S.6
Hershfield, M.7
Pandolfi, P.P.8
Roifman, C.M.9
Cohen, A.10
-
20
-
-
85047694201
-
Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency
-
Nishigaki Y., Marti R., Copeland W.C., Hirano M. Site-specific somatic mitochondrial DNA point mutations in patients with thymidine phosphorylase deficiency. J. Clin. Invest. 111:2003;1913-1921.
-
(2003)
J. Clin. Invest.
, vol.111
, pp. 1913-1921
-
-
Nishigaki, Y.1
Marti, R.2
Copeland, W.C.3
Hirano, M.4
-
21
-
-
0037138464
-
Effects of biological DNA precursor pool asymmetry upon accuracy of DNA replication in vitro
-
Martomo S.A., Mathews C.K. Effects of biological DNA precursor pool asymmetry upon accuracy of DNA replication in vitro. Mutat. Res. 499(2):2002;197-211.
-
(2002)
Mutat. Res.
, vol.499
, Issue.2
, pp. 197-211
-
-
Martomo, S.A.1
Mathews, C.K.2
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