-
1
-
-
0034604506
-
Role of adenine nucleotide translocator 1 in mtDNA maintenance
-
Kaukonen J., Juselius J.K., Tiranti V., Kyttala A., Zeviani M., Comi G.P., Keranen S., Peltonen L., and Suomalainen A. Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science 289 (2000) 782-785
-
(2000)
Science
, vol.289
, pp. 782-785
-
-
Kaukonen, J.1
Juselius, J.K.2
Tiranti, V.3
Kyttala, A.4
Zeviani, M.5
Comi, G.P.6
Keranen, S.7
Peltonen, L.8
Suomalainen, A.9
-
2
-
-
0035987886
-
Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions
-
Van Goethem G., Martin J.J., and Van Broeckhoven C. Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions. Acta Neurol. Belg. 102 (2002) 39-42
-
(2002)
Acta Neurol. Belg.
, vol.102
, pp. 39-42
-
-
Van Goethem, G.1
Martin, J.J.2
Van Broeckhoven, C.3
-
3
-
-
0034938364
-
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
-
Spelbrink J.N., Li F.Y., Tiranti V., Nikali K., Yuan Q.P., Tariq M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G.M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A., Jacobs H.T., Zeviani M., and Larsson C. Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat. Genet. 28 (2001) 223-231
-
(2001)
Nat. Genet.
, vol.28
, pp. 223-231
-
-
Spelbrink, J.N.1
Li, F.Y.2
Tiranti, V.3
Nikali, K.4
Yuan, Q.P.5
Tariq, M.6
Wanrooij, S.7
Garrido, N.8
Comi, G.9
Morandi, L.10
Santoro, L.11
Toscano, A.12
Fabrizi, G.M.13
Somer, H.14
Croxen, R.15
Beeson, D.16
Poulton, J.17
Suomalainen, A.18
Jacobs, H.T.19
Zeviani, M.20
Larsson, C.21
more..
-
4
-
-
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., and 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
-
5
-
-
0035179561
-
Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
-
Saada A., Shaag A., Mandel H., Nevo Y., Eriksson S., and 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
-
6
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
Elpeleg O., Miller C., Hershkovitz E., Bitner-Glindzicz M., Bondi-Rubinstein G., Rahman S., Pagnamenta A., Eshhar S., and Saada A. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am. J. Hum. Genet. 76 (2005) 1081-1086
-
(2005)
Am. J. Hum. Genet.
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
Bitner-Glindzicz, M.4
Bondi-Rubinstein, G.5
Rahman, S.6
Pagnamenta, A.7
Eshhar, S.8
Saada, A.9
-
7
-
-
33646859687
-
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia
-
Longley M.J., Clark S., Yu Wai Man C., Hudson G., Durham S.E., Taylor R.W., Nightingale S., Turnbull D.M., Copeland W.C., and Chinnery P.F. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am. J. Hum. Genet. 78 (2006) 1026-1034
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 1026-1034
-
-
Longley, M.J.1
Clark, S.2
Yu Wai Man, C.3
Hudson, G.4
Durham, S.E.5
Taylor, R.W.6
Nightingale, S.7
Turnbull, D.M.8
Copeland, W.C.9
Chinnery, P.F.10
-
8
-
-
33646376465
-
MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion
-
Spinazzola A., Viscomi C., Fernandez-Vizarra E., Carrara F., D'Adamo P., Calvo S., Marsano R.M., Donnini C., Weiher H., Strisciuglio P., Parini R., Sarzi E., Chan A., DiMauro S., Rotig A., Gasparini P., Ferrero I., Mootha V.K., Tiranti V., and Zeviani M. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat. Genet. 38 (2006) 570-575
-
(2006)
Nat. Genet.
, vol.38
, pp. 570-575
-
-
Spinazzola, A.1
Viscomi, C.2
Fernandez-Vizarra, E.3
Carrara, F.4
D'Adamo, P.5
Calvo, S.6
Marsano, R.M.7
Donnini, C.8
Weiher, H.9
Strisciuglio, P.10
Parini, R.11
Sarzi, E.12
Chan, A.13
DiMauro, S.14
Rotig, A.15
Gasparini, P.16
Ferrero, I.17
Mootha, V.K.18
Tiranti, V.19
Zeviani, M.20
more..
-
9
-
-
34249811206
-
Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion
-
Bourdon A., Minai L., Serre V., Jais J.P., Sarzi E., Aubert S., Chretien D., de Lonlay P., Paquis-Flucklinger V., Arakawa H., Nakamura Y., Munnich A., and Rotig A. Mutation of RRM2B, encoding p53-controlled ribonucleotide reductase (p53R2), causes severe mitochondrial DNA depletion. Nat. Genet. 39 (2007) 776-780
-
(2007)
Nat. Genet.
, vol.39
, pp. 776-780
-
-
Bourdon, A.1
Minai, L.2
Serre, V.3
Jais, J.P.4
Sarzi, E.5
Aubert, S.6
Chretien, D.7
de Lonlay, P.8
Paquis-Flucklinger, V.9
Arakawa, H.10
Nakamura, Y.11
Munnich, A.12
Rotig, A.13
-
10
-
-
0027752969
-
Evidence for distinct primase and helicase domains in the 63-kDa gene 4 protein of bacteriophage T7. Characterization of nucleotide binding site mutant
-
Mendelman L.V., Notarnicola S.M., and Richardson C.C. Evidence for distinct primase and helicase domains in the 63-kDa gene 4 protein of bacteriophage T7. Characterization of nucleotide binding site mutant. J. Biol. Chem. 268 (1993) 27208-27213
-
(1993)
J. Biol. Chem.
, vol.268
, pp. 27208-27213
-
-
Mendelman, L.V.1
Notarnicola, S.M.2
Richardson, C.C.3
-
11
-
-
0024333260
-
Characterization of the helicase and primase activities of the 63-kDa component of the bacteriophage T7 gene 4 protein
-
Bernstein J.A., and Richardson C.C. Characterization of the helicase and primase activities of the 63-kDa component of the bacteriophage T7 gene 4 protein. J. Biol. Chem. 264 (1989) 13066-13073
-
(1989)
J. Biol. Chem.
, vol.264
, pp. 13066-13073
-
-
Bernstein, J.A.1
Richardson, C.C.2
-
12
-
-
0029092684
-
A domain of the gene 4 helicase/primase of bacteriophage T7 required for the formation of an active hexamer
-
Notarnicola S.M., Park K., Griffith J.D., and Richardson C.C. A domain of the gene 4 helicase/primase of bacteriophage T7 required for the formation of an active hexamer. J. Biol. Chem. 270 (1995) 20215-20224
-
(1995)
J. Biol. Chem.
, vol.270
, pp. 20215-20224
-
-
Notarnicola, S.M.1
Park, K.2
Griffith, J.D.3
Richardson, C.C.4
-
13
-
-
0027182114
-
Helicases: amino acid sequence comparisons and structure-function relationships
-
Gorbalenya AE K.E. Helicases: amino acid sequence comparisons and structure-function relationships. Curr. Opin. Struct. Biol. 3 (1993) 419-429
-
(1993)
Curr. Opin. Struct. Biol.
, vol.3
, pp. 419-429
-
-
Gorbalenya AE, K.E.1
-
14
-
-
0033786801
-
Structure and function of hexameric helicases
-
Patel S.S., and Picha K.M. Structure and function of hexameric helicases. Annu. Rev. Biochem. 69 (2000) 651-697
-
(2000)
Annu. Rev. Biochem.
, vol.69
, pp. 651-697
-
-
Patel, S.S.1
Picha, K.M.2
-
15
-
-
1542677230
-
TWINKLE Has 5′ → 3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein
-
Korhonen J.A., Gaspari M., and Falkenberg M. TWINKLE Has 5′ → 3′ DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. J. Biol. Chem. 278 (2003) 48627-48632
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 48627-48632
-
-
Korhonen, J.A.1
Gaspari, M.2
Falkenberg, M.3
-
17
-
-
0033551040
-
The Cys4 zinc finger of bacteriophage T7 primase in sequence-specific single-stranded DNA recognition
-
Kusakabe T., Hine A.V., Hyberts S.G., and Richardson C.C. The Cys4 zinc finger of bacteriophage T7 primase in sequence-specific single-stranded DNA recognition. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 4295-4300
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 4295-4300
-
-
Kusakabe, T.1
Hine, A.V.2
Hyberts, S.G.3
Richardson, C.C.4
-
18
-
-
0033536033
-
Escherichia coli primase zinc is sensitive to substrate and cofactor binding
-
Powers L., and Griep M.A. Escherichia coli primase zinc is sensitive to substrate and cofactor binding. Biochemistry 38 (1999) 7413-7420
-
(1999)
Biochemistry
, vol.38
, pp. 7413-7420
-
-
Powers, L.1
Griep, M.A.2
-
19
-
-
0038054465
-
Modular architecture of the bacteriophage T7 primase couples RNA primer synthesis to DNA synthesis
-
Kato M., Ito T., Wagner G., Richardson C.C., and Ellenberger T. Modular architecture of the bacteriophage T7 primase couples RNA primer synthesis to DNA synthesis. Mol. Cell 11 (2003) 1349-1360
-
(2003)
Mol. Cell
, vol.11
, pp. 1349-1360
-
-
Kato, M.1
Ito, T.2
Wagner, G.3
Richardson, C.C.4
Ellenberger, T.5
-
20
-
-
33745637944
-
Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes
-
Shutt T.E., and Gray M.W. Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes. J. Mol. Evol. 62 (2006) 588-599
-
(2006)
J. Mol. Evol.
, vol.62
, pp. 588-599
-
-
Shutt, T.E.1
Gray, M.W.2
-
21
-
-
0007662353
-
Priming of human mitochondrial DNA replication occurs at the light-strand promoter
-
Chang D.D., and Clayton D.A. Priming of human mitochondrial DNA replication occurs at the light-strand promoter. Proc. Natl. Acad. Sci. U. S. A. 82 (1985) 351-355
-
(1985)
Proc. Natl. Acad. Sci. U. S. A.
, vol.82
, pp. 351-355
-
-
Chang, D.D.1
Clayton, D.A.2
-
22
-
-
2942672611
-
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
-
Wanrooij S., Luoma P., van Goethem G., van Broeckhoven C., Suomalainen A., and Spelbrink J.N. Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res. 32 (2004) 3053-3064
-
(2004)
Nucleic Acids Res.
, vol.32
, pp. 3053-3064
-
-
Wanrooij, S.1
Luoma, P.2
van Goethem, G.3
van Broeckhoven, C.4
Suomalainen, A.5
Spelbrink, J.N.6
-
23
-
-
0032493373
-
An N-terminal fragment of the gene 4 helicase/primase of bacteriophage T7 retains primase activity in the absence of helicase activity
-
Frick D.N., Baradaran K., and Richardson C.C. An N-terminal fragment of the gene 4 helicase/primase of bacteriophage T7 retains primase activity in the absence of helicase activity. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 7957-7962
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 7957-7962
-
-
Frick, D.N.1
Baradaran, K.2
Richardson, C.C.3
-
24
-
-
39149116732
-
The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities
-
Farge G., Holmlund T., Khvorostova J., Rofougaran R., Hofer A., and Falkenberg M. The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities. Nucleic Acids Res. 36 (2008) 393-403
-
(2008)
Nucleic Acids Res.
, vol.36
, pp. 393-403
-
-
Farge, G.1
Holmlund, T.2
Khvorostova, J.3
Rofougaran, R.4
Hofer, A.5
Falkenberg, M.6
-
25
-
-
40849097478
-
Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia
-
Korhonen J.A., Pande V., Holmlund T., Farge G., Pham X.H., Nilsson L., and Falkenberg M. Structure-function defects of the TWINKLE linker region in progressive external ophthalmoplegia. J. Mol. Biol. 377 (2008) 691-705
-
(2008)
J. Mol. Biol.
, vol.377
, pp. 691-705
-
-
Korhonen, J.A.1
Pande, V.2
Holmlund, T.3
Farge, G.4
Pham, X.H.5
Nilsson, L.6
Falkenberg, M.7
-
26
-
-
34248170868
-
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells
-
Matsushima Y., and Kaguni L.S. Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. J. Biol. Chem. 282 (2007) 9436-9444
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 9436-9444
-
-
Matsushima, Y.1
Kaguni, L.S.2
-
27
-
-
10644229290
-
The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells
-
Gaspari M., Falkenberg M., Larsson N.G., and Gustafsson C.M. The mitochondrial RNA polymerase contributes critically to promoter specificity in mammalian cells. EMBO J. 23 (2004) 4606-4614
-
(2004)
EMBO J.
, vol.23
, pp. 4606-4614
-
-
Gaspari, M.1
Falkenberg, M.2
Larsson, N.G.3
Gustafsson, C.M.4
-
28
-
-
33847349331
-
The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function
-
Farge G., Pham X.H., Holmlund T., Khorostov I., and Falkenberg M. The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function. Nucleic Acids Res. 35 (2007) 902-911
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 902-911
-
-
Farge, G.1
Pham, X.H.2
Holmlund, T.3
Khorostov, I.4
Falkenberg, M.5
-
29
-
-
0030930191
-
The UL8 subunit of the heterotrimeric herpes simplex virus type 1 helicase-primase is required for the unwinding of single strand DNA-binding protein (ICP8)-coated DNA substrates
-
Falkenberg M., Bushnell D.A., Elias P., and Lehman I.R. The UL8 subunit of the heterotrimeric herpes simplex virus type 1 helicase-primase is required for the unwinding of single strand DNA-binding protein (ICP8)-coated DNA substrates. J. Biol. Chem. 272 (1997) 22766-22770
-
(1997)
J. Biol. Chem.
, vol.272
, pp. 22766-22770
-
-
Falkenberg, M.1
Bushnell, D.A.2
Elias, P.3
Lehman, I.R.4
-
30
-
-
22844439673
-
Acidic residues in the nucleotide-binding site of the bacteriophage T7 DNA primase
-
Lee S.J., and Richardson C.C. Acidic residues in the nucleotide-binding site of the bacteriophage T7 DNA primase. J. Biol. Chem. 280 (2005) 26984-26991
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 26984-26991
-
-
Lee, S.J.1
Richardson, C.C.2
-
31
-
-
37849003416
-
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion
-
Sarzi E., Goffart S., Serre V., Chretien D., Slama A., Munnich A., Spelbrink J.N., and Rotig A. Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. Ann. Neurol. 62 (2007) 579-587
-
(2007)
Ann. Neurol.
, vol.62
, pp. 579-587
-
-
Sarzi, E.1
Goffart, S.2
Serre, V.3
Chretien, D.4
Slama, A.5
Munnich, A.6
Spelbrink, J.N.7
Rotig, A.8
-
32
-
-
35649024143
-
Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion
-
Hakonen A.H., Isohanni P., Paetau A., Herva R., Suomalainen A., and Lonnqvist T. Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain 130 (2007) 3032-3040
-
(2007)
Brain
, vol.130
, pp. 3032-3040
-
-
Hakonen, A.H.1
Isohanni, P.2
Paetau, A.3
Herva, R.4
Suomalainen, A.5
Lonnqvist, T.6
-
33
-
-
33847248347
-
The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells
-
Cao L., Shitara H., Horii T., Nagao Y., Imai H., Abe K., Hara T., Hayashi J., and Yonekawa H. The mitochondrial bottleneck occurs without reduction of mtDNA content in female mouse germ cells. Nat. Genet. 39 (2007) 386-390
-
(2007)
Nat. Genet.
, vol.39
, pp. 386-390
-
-
Cao, L.1
Shitara, H.2
Horii, T.3
Nagao, Y.4
Imai, H.5
Abe, K.6
Hara, T.7
Hayashi, J.8
Yonekawa, H.9
-
34
-
-
38949091096
-
Strong purifying selection in transmission of mammalian mitochondrial DNA
-
Stewart J.B., Freyer C., Elson J.L., Wredenberg A., Cansu Z., Trifunovic A., and Larsson N.G. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol. 6 (2008) e10
-
(2008)
PLoS Biol.
, vol.6
-
-
Stewart, J.B.1
Freyer, C.2
Elson, J.L.3
Wredenberg, A.4
Cansu, Z.5
Trifunovic, A.6
Larsson, N.G.7
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