-
1
-
-
33749004245
-
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans
-
Baruffini E., Lodi T., Dallabona C., Puglisi A., Zeviani M., Ferrero I. Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. Hum. Mol. Genet. 2006, 15:2846-2855.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2846-2855
-
-
Baruffini, E.1
Lodi, T.2
Dallabona, C.3
Puglisi, A.4
Zeviani, M.5
Ferrero, I.6
-
2
-
-
37049033589
-
Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human
-
Baruffini E., Ferrero I., Foury F. Mitochondrial DNA defects in Saccharomyces cerevisiae caused by functional interactions between DNA polymerase gamma mutations associated with disease in human. Biochim. Biophys. Acta 2007, 1772:1225-1235.
-
(2007)
Biochim. Biophys. Acta
, vol.1772
, pp. 1225-1235
-
-
Baruffini, E.1
Ferrero, I.2
Foury, F.3
-
3
-
-
84929297620
-
In vivo analysis of mtDNA replication defects in yeast
-
Baruffini E., Ferrero I., Foury F. In vivo analysis of mtDNA replication defects in yeast. Methods 2010, 51:426-436.
-
(2010)
Methods
, vol.51
, pp. 426-436
-
-
Baruffini, E.1
Ferrero, I.2
Foury, F.3
-
4
-
-
0025785410
-
A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors
-
Bonneaud N., Ozier-Kalogeropoulos O., Li G.Y., Labouesse M., Minvielle-Sebastia L., Lacroute F. A family of low and high copy replicative, integrative and single-stranded S. cerevisiae/E. coli shuttle vectors. Yeast 1991, 7:609-615.
-
(1991)
Yeast
, vol.7
, pp. 609-615
-
-
Bonneaud, N.1
Ozier-Kalogeropoulos, O.2
Li, G.Y.3
Labouesse, M.4
Minvielle-Sebastia, L.5
Lacroute, F.6
-
5
-
-
0037423223
-
Survival of DNA damage in yeast directly depends on increased dNTP levels allowed by relaxed feedback inhibition of ribonucleotide reductase
-
Chabes A., Georgieva B., Domkin V., Zhao X., Rothstein R., Thelander L. Survival of DNA damage in yeast directly depends on increased dNTP levels allowed by relaxed feedback inhibition of ribonucleotide reductase. Cell 2003, 112:391-401.
-
(2003)
Cell
, vol.112
, pp. 391-401
-
-
Chabes, A.1
Georgieva, B.2
Domkin, V.3
Zhao, X.4
Rothstein, R.5
Thelander, L.6
-
6
-
-
33751384305
-
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders
-
Chan S.S., Longley M.J., Copeland W.C. Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphism in mitochondrial disorders. Hum. Mol. Genet. 2006, 15:3473-3483.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 3473-3483
-
-
Chan, S.S.1
Longley, M.J.2
Copeland, W.C.3
-
7
-
-
0024367805
-
A single nucleotide substitution at the rib2 locus of the yeast mitochondrial gene for 21S rRNA confers resistance to erythromycin and cold-sensitive ribosome assembly
-
Cui Z., Mason T.L. A single nucleotide substitution at the rib2 locus of the yeast mitochondrial gene for 21S rRNA confers resistance to erythromycin and cold-sensitive ribosome assembly. Curr. Genet. 1989, 16:273-279.
-
(1989)
Curr. Genet.
, vol.16
, pp. 273-279
-
-
Cui, Z.1
Mason, T.L.2
-
8
-
-
4444276204
-
POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
-
DiFonzo A., Bordoni A., Crimi M., Sara G., Bo R.D., Bresolin N., Comi G.P. POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions. Hum. Mutat. 2003, 22:498-499.
-
(2003)
Hum. Mutat.
, vol.22
, pp. 498-499
-
-
DiFonzo, A.1
Bordoni, A.2
Crimi, M.3
Sara, G.4
Bo, R.D.5
Bresolin, N.6
Comi, G.P.7
-
9
-
-
75749152961
-
Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using yeast models of OXPHOS deficiencies
-
Unit 19.5 63, 19.5.1-19.5.20
-
Fontanesi F., Diaz F., Barrientos A. Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using yeast models of OXPHOS deficiencies. Curr. Protoc. Hum. Genet. 2009, Unit 19.5 63, 19.5.1-19.5.20.
-
(2009)
Curr. Protoc. Hum. Genet.
-
-
Fontanesi, F.1
Diaz, F.2
Barrientos, A.3
-
10
-
-
40949086824
-
Screens for mitochondrial mutants in yeast
-
Foury F. Screens for mitochondrial mutants in yeast. Meth. Mol. Biol. 2007, 372:167-176.
-
(2007)
Meth. Mol. Biol.
, vol.372
, pp. 167-176
-
-
Foury, F.1
-
11
-
-
3543039417
-
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia
-
Graziewicz M.A., Longley M.J., Bienstock R.J., Zeviani M., Copeland W.C. Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. Nat. Struct. Mol. Biol. 2004, 11:770-776.
-
(2004)
Nat. Struct. Mol. Biol.
, vol.11
, pp. 770-776
-
-
Graziewicz, M.A.1
Longley, M.J.2
Bienstock, R.J.3
Zeviani, M.4
Copeland, W.C.5
-
12
-
-
35548972018
-
The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7, 8-dihydro-8-oxo-2'-deoxyguanosine
-
Graziewicz M.A., Bienstock R.J., Copeland W.C. The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7, 8-dihydro-8-oxo-2'-deoxyguanosine. Hum. Mol. Genet. 2007, 16:2729-2739.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 2729-2739
-
-
Graziewicz, M.A.1
Bienstock, R.J.2
Copeland, W.C.3
-
13
-
-
20044362596
-
Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy
-
Hisama F.M., Mancuso M., Filosto M., DiMauro S. Progressive external ophthalmoplegia: a new family with tremor and peripheral neuropathy. Am. J. Med. Genet. A 2005, 135:217-219.
-
(2005)
Am. J. Med. Genet. A
, vol.135
, pp. 217-219
-
-
Hisama, F.M.1
Mancuso, M.2
Filosto, M.3
DiMauro, S.4
-
14
-
-
0024520745
-
Site-directed mutagenesis by overlap extension using the polymerase chain reaction
-
Ho S.N., Hunt H.D., Horton R.M., Pullen J.K., Pease L.R. Site-directed mutagenesis by overlap extension using the polymerase chain reaction. Gene 1989, 77:51-59.
-
(1989)
Gene
, vol.77
, pp. 51-59
-
-
Ho, S.N.1
Hunt, H.D.2
Horton, R.M.3
Pullen, J.K.4
Pease, L.R.5
-
15
-
-
0029025235
-
Isolation and characterization of ten mutator alleles of the mitochondrial DNA polymerase-encoding MIP1 gene from Saccharomyces cerevisiae
-
Hu J.P., Vanderstraeten S., Foury F. Isolation and characterization of ten mutator alleles of the mitochondrial DNA polymerase-encoding MIP1 gene from Saccharomyces cerevisiae. Gene 1995, 160:105-110.
-
(1995)
Gene
, vol.160
, pp. 105-110
-
-
Hu, J.P.1
Vanderstraeten, S.2
Foury, F.3
-
16
-
-
67749104713
-
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication
-
Kasiviswanathan R., Longley M.J., Chan S.S., Copeland W.C. Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. J. Biol. Chem. 2009, 284:19501-19510.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 19501-19510
-
-
Kasiviswanathan, R.1
Longley, M.J.2
Chan, S.S.3
Copeland, W.C.4
-
17
-
-
0035895888
-
Selective targeting of a redox-active ubiquinone to mitochondria within cells: antioxidant and antiapoptotic properties
-
Kelso G.F., Porteous C.M., Coulter C.V., Hughes G., Porteous W.K., Ledgerwood E.C., Smith R.A., Murphy M.P. Selective targeting of a redox-active ubiquinone to mitochondria within cells: antioxidant and antiapoptotic properties. J. Biol. Chem. 2001, 276:4588-4596.
-
(2001)
J. Biol. Chem.
, vol.276
, pp. 4588-4596
-
-
Kelso, G.F.1
Porteous, C.M.2
Coulter, C.V.3
Hughes, G.4
Porteous, W.K.5
Ledgerwood, E.C.6
Smith, R.A.7
Murphy, M.P.8
-
18
-
-
76149087433
-
A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes
-
Kurt B., Jaeken J., Van Hove J., Lagae L., Löfgren A., Everman D.B., Jayakar P., Naini A., Wierenga K.J., Van Goethem G., Copeland W.C., DiMauro S. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Arch. Neurol. 2010, 67:239-244.
-
(2010)
Arch. Neurol.
, vol.67
, pp. 239-244
-
-
Kurt, B.1
Jaeken, J.2
Van Hove, J.3
Lagae, L.4
Löfgren, A.5
Everman, D.B.6
Jayakar, P.7
Naini, A.8
Wierenga, K.J.9
Van Goethem, G.10
Copeland, W.C.11
DiMauro, S.12
-
19
-
-
0034603852
-
New features of mitochondrial DNA replication system in yeast and man
-
Lecrenier N., Foury F. New features of mitochondrial DNA replication system in yeast and man. Gene 2000, 246:37-48.
-
(2000)
Gene
, vol.246
, pp. 37-48
-
-
Lecrenier, N.1
Foury, F.2
-
20
-
-
70349807756
-
Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations
-
Lee Y.S., Kennedy W.D., Yin Y.W. Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations. Cell 2009, 139:312-324.
-
(2009)
Cell
, vol.139
, pp. 312-324
-
-
Lee, Y.S.1
Kennedy, W.D.2
Yin, Y.W.3
-
21
-
-
33947537266
-
Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma
-
Lewis W., Day B.J., Kohler J.J., Hosseini S.H., Chan S.S., Green E.C., Haase C.P., Keebaugh E.S., Long R., Ludaway T., Russ R., Steltzer J., Tioleco N., Santoianni R., Copeland W.C. Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma. Lab. Invest. 2007, 87:326-335.
-
(2007)
Lab. Invest.
, vol.87
, pp. 326-335
-
-
Lewis, W.1
Day, B.J.2
Kohler, J.J.3
Hosseini, S.H.4
Chan, S.S.5
Green, E.C.6
Haase, C.P.7
Keebaugh, E.S.8
Long, R.9
Ludaway, T.10
Russ, R.11
Steltzer, J.12
Tioleco, N.13
Santoianni, R.14
Copeland, W.C.15
-
22
-
-
0842282465
-
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness
-
Mancuso M., Filosto M., Bellan M., Liguori R., Montagna P., Baruzzi A., DiMauro S., Carelli V. POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 2004, 62:316-318.
-
(2004)
Neurology
, vol.62
, pp. 316-318
-
-
Mancuso, M.1
Filosto, M.2
Bellan, M.3
Liguori, R.4
Montagna, P.5
Baruzzi, A.6
DiMauro, S.7
Carelli, V.8
-
23
-
-
0035185070
-
Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
-
Rovio A.T., Marchington D.R., Donat S., Schuppe H.C., Abel J., Fritsche E., Elliott D.J., Laippala P., Ahola A.L., McNay D., Harrison R.F., Hughes B., Barrett T., Bailey D.M., Mehmet D., Jequier A.M., Hargreave T.B., Kao S.H., Cummins J.M., Barton D.E., Cooke H.J., Wei Y.H., Wichmann L., Poulton J., Jacobs H.T. Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat. Genet. 2001, 29:261-262.
-
(2001)
Nat. Genet.
, vol.29
, pp. 261-262
-
-
Rovio, A.T.1
Marchington, D.R.2
Donat, S.3
Schuppe, H.C.4
Abel, J.5
Fritsche, E.6
Elliott, D.J.7
Laippala, P.8
Ahola, A.L.9
McNay, D.10
Harrison, R.F.11
Hughes, B.12
Barrett, T.13
Bailey, D.M.14
Mehmet, D.15
Jequier, A.M.16
Hargreave, T.B.17
Kao, S.H.18
Cummins, J.M.19
Barton, D.E.20
Cooke, H.J.21
Wei, Y.H.22
Wichmann, L.23
Poulton, J.24
Jacobs, H.T.25
more..
-
24
-
-
0017293210
-
Localization in yeast mitochondrial DNA of mutations expressed in a deficiency of cytochrome oxidase and/or coenzyme QH2-cytochrome c reductase
-
Slonimski P.P., Tzagoloff A. Localization in yeast mitochondrial DNA of mutations expressed in a deficiency of cytochrome oxidase and/or coenzyme QH2-cytochrome c reductase. Eur. J. Biochem. 1976, 61:27-41.
-
(1976)
Eur. J. Biochem.
, vol.61
, pp. 27-41
-
-
Slonimski, P.P.1
Tzagoloff, A.2
-
25
-
-
0020480167
-
Nature of an inserted sequence in the mitochondrial gene coding for the 15S ribosomal RNA of yeast
-
Sor F., Fukuhara H. Nature of an inserted sequence in the mitochondrial gene coding for the 15S ribosomal RNA of yeast. Nucleic Acids Res. 1982, 11:1625-1633.
-
(1982)
Nucleic Acids Res.
, vol.11
, pp. 1625-1633
-
-
Sor, F.1
Fukuhara, H.2
-
26
-
-
0021771507
-
Erythromycin and spiramycin resistance mutations of yeast mitochondria: nature of the rib2 locus in the large ribosomal RNA gene
-
Sor F., Fukuhara H. Erythromycin and spiramycin resistance mutations of yeast mitochondria: nature of the rib2 locus in the large ribosomal RNA gene. Nucleic Acids Res. 1984, 12:8313-8318.
-
(1984)
Nucleic Acids Res.
, vol.12
, pp. 8313-8318
-
-
Sor, F.1
Fukuhara, H.2
-
27
-
-
64449087543
-
Clinical and molecular features of mitochondrial DNA depletion syndromes
-
Spinazzola A., Invernizzi F., Carrara F., Lamantea E., Donati A., Dirocco M., Giordano I., Meznaric-Petrusa M., Baruffini E., Ferrero I., Zeviani M. Clinical and molecular features of mitochondrial DNA depletion syndromes. J. Inherit. Metab. Dis. 2009, 32:143-158.
-
(2009)
J. Inherit. Metab. Dis.
, vol.32
, pp. 143-158
-
-
Spinazzola, A.1
Invernizzi, F.2
Carrara, F.3
Lamantea, E.4
Donati, A.5
Dirocco, M.6
Giordano, I.7
Meznaric-Petrusa, M.8
Baruffini, E.9
Ferrero, I.10
Zeviani, M.11
-
28
-
-
78049516212
-
-
in press. POLG determines the risk of sodium valproate induced liver toxicity. Hepatology. doi:10.1002/hep.23891.
-
Stewart, J.D., Horvath, R., Baruffini, E., Ferrero, I., Bulst, S., Watkins, P.B., Fontana, R.J., Day, C.P., Chinnery, P.F., in press. POLG determines the risk of sodium valproate induced liver toxicity. Hepatology. doi:10.1002/hep.23891.
-
-
-
Stewart, J.D.1
Horvath, R.2
Baruffini, E.3
Ferrero, I.4
Bulst, S.5
Watkins, P.B.6
Fontana, R.J.7
Day, C.P.8
Chinnery, P.F.9
-
29
-
-
70349680614
-
A variable neurodegenerative phenotype with Polymerase γ mutation
-
Stricker S., Prüss H., Horvath R., Baruffini E., Lodi T., Siebert E., Endres M., Zschenderlein R., Meisel A. A variable neurodegenerative phenotype with Polymerase γ mutation. J. Neurol. Neurosurg. Psychiatry 2009, 80:1181-1182.
-
(2009)
J. Neurol. Neurosurg. Psychiatry
, vol.80
, pp. 1181-1182
-
-
Stricker, S.1
Prüss, H.2
Horvath, R.3
Baruffini, E.4
Lodi, T.5
Siebert, E.6
Endres, M.7
Zschenderlein, R.8
Meisel, A.9
-
30
-
-
31144476302
-
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia
-
Stuart G.R., Santos J.H., Strand M.K., Van Houten B., Copeland W.C. Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. Hum. Mol. Genet. 2006, 15:363-374.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 363-374
-
-
Stuart, G.R.1
Santos, J.H.2
Strand, M.K.3
Van Houten, B.4
Copeland, W.C.5
-
31
-
-
77953499335
-
Mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae
-
Stumpf J.D., Bailey C.M., Spell D., Stillwagon M., Anderson K.S., Copeland W.C. mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. Hum. Mol. Genet. 2010, 19:2123-2133.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 2123-2133
-
-
Stumpf, J.D.1
Bailey, C.M.2
Spell, D.3
Stillwagon, M.4
Anderson, K.S.5
Copeland, W.C.6
-
32
-
-
77956123004
-
A cluster of pathogenic mutations in the 3″-5″ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation
-
Szczepanowska K., Foury F. A cluster of pathogenic mutations in the 3″-5″ exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation. Hum. Mol. Genet. 2010, 19:3516-3529.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 3516-3529
-
-
Szczepanowska, K.1
Foury, F.2
-
33
-
-
77951916876
-
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes
-
Tzoulis C., Neckelmann G., Mørk S.J., Engelsen B.D., Viscomi C., Moen G., Ersland L., Zeviani M., Bindoff L.A. Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. Brain 2010, 133:1428-1437.
-
(2010)
Brain
, vol.133
, pp. 1428-1437
-
-
Tzoulis, C.1
Neckelmann, G.2
Mørk, S.J.3
Engelsen, B.D.4
Viscomi, C.5
Moen, G.6
Ersland, L.7
Zeviani, M.8
Bindoff, L.A.9
-
34
-
-
0032508665
-
The role of 3″-5″ exonucleolytic proofreading and mismatch repair in yeast mitochondrial DNA error avoidance
-
Vanderstraeten S., Van den Brûle S., Hu J., Foury F. The role of 3″-5″ exonucleolytic proofreading and mismatch repair in yeast mitochondrial DNA error avoidance. J. Biol. Chem. 1998, 273:23690-23697.
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 23690-23697
-
-
Vanderstraeten, S.1
Van den Brûle, S.2
Hu, J.3
Foury, F.4
-
35
-
-
57849140614
-
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
-
Wong L.J., Naviaux R.K., Brunetti-Pierri N., Zhang Q., Schmitt E.S., Truong C., Milone M., Cohen B.H., Wical B., Ganesh J., Basinger A.A., Burton B.K., Swoboda K., Gilbert D.L., Vanderver A., Saneto R.P., Maranda B., Arnold G., Abdenur J.E., Waters P.J., Copeland W.C. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum. Mutat. 2008, 29:E150-E172.
-
(2008)
Hum. Mutat.
, vol.29
-
-
Wong, L.J.1
Naviaux, R.K.2
Brunetti-Pierri, N.3
Zhang, Q.4
Schmitt, E.S.5
Truong, C.6
Milone, M.7
Cohen, B.H.8
Wical, B.9
Ganesh, J.10
Basinger, A.A.11
Burton, B.K.12
Swoboda, K.13
Gilbert, D.L.14
Vanderver, A.15
Saneto, R.P.16
Maranda, B.17
Arnold, G.18
Abdenur, J.E.19
Waters, P.J.20
Copeland, W.C.21
more..
-
36
-
-
33644855097
-
Functional human mitochondrial DNA polymerase gamma forms a heterotrimer
-
Yakubovskaya E., Chen Z., Carrodeguas J.A., Kisker C., Bogenhagen D.F. Functional human mitochondrial DNA polymerase gamma forms a heterotrimer. J. Biol. Chem. 2006, 281:374-382.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 374-382
-
-
Yakubovskaya, E.1
Chen, Z.2
Carrodeguas, J.A.3
Kisker, C.4
Bogenhagen, D.F.5
|