-
1
-
-
0019423856
-
Sequence and organization of the human mitochondrial genome
-
Anderson, S., Bankier, A. T., Barrell, B. G., 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.G.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
-
2
-
-
0033525773
-
Mitochondrial diseases in man and mouse
-
Wallace, D. C. (1999) Mitochondrial diseases in man and mouse. Science 283, 1482-1488
-
(1999)
Science
, vol.283
, pp. 1482-1488
-
-
Wallace, D.C.1
-
3
-
-
84903267268
-
Mitochondrial genome changes and neurodegenerative diseases
-
Pinto, M., and Moraes, C. T. (2013) Mitochondrial genome changes and neurodegenerative diseases. Biochim. Biophys. Acta 1842, 1198-1207
-
(2013)
Biochim. Biophys. Acta
, vol.1842
, pp. 1198-1207
-
-
Pinto, M.1
Moraes, C.T.2
-
4
-
-
84866665390
-
Mitochondria and cancer
-
Wallace, D. C. (2012) Mitochondria and cancer. Nat. Rev. Cancer 12, 685-698
-
(2012)
Nat. Rev. Cancer
, vol.12
, pp. 685-698
-
-
Wallace, D.C.1
-
5
-
-
84874591240
-
The role of mitochondria in aging
-
Bratic, A., and Larsson, N. G. (2013) The role of mitochondria in aging. J. Clin. Invest. 123, 951-957
-
(2013)
J. Clin. Invest.
, vol.123
, pp. 951-957
-
-
Bratic, A.1
Larsson, N.G.2
-
6
-
-
82755161770
-
Mitochondrial DNA and disease
-
Greaves, L. C., Reeve, A. K., Taylor, R. W., and Turnbull, D. M. (2012) Mitochondrial DNA and disease. J. Pathol. 226, 274-286
-
(2012)
J. Pathol.
, vol.226
, pp. 274-286
-
-
Greaves, L.C.1
Reeve, A.K.2
Taylor, R.W.3
Turnbull, D.M.4
-
7
-
-
84893303932
-
Detection of G-quadruplex DNA in mammalian cells
-
Henderson, A., Wu, Y., Huang, Y. C., Chavez, E. A., Platt, J., Johnson, F. B., Brosh, R. M., Jr., Sen, D., and Lansdorp, P. M. (2014) Detection of G-quadruplex DNA in mammalian cells. Nucleic Acids Res. 42, 860-869
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. 860-869
-
-
Henderson, A.1
Wu, Y.2
Huang, Y.C.3
Chavez, E.A.4
Platt, J.5
Johnson, F.B.6
Brosh, R.M.7
Sen, D.8
Lansdorp, P.M.9
-
8
-
-
84877768759
-
G-quadruplex structures are stable and detectable in human genomic DNA
-
Lam, E. Y., Beraldi, D., Tannahill, D., and Balasubramanian, S. (2013) G-quadruplex structures are stable and detectable in human genomic DNA. Nat. Commun. 4, 1796
-
(2013)
Nat. Commun.
, vol.4
, pp. 1796
-
-
Lam, E.Y.1
Beraldi, D.2
Tannahill, D.3
Balasubramanian, S.4
-
9
-
-
84867744921
-
DNA secondary structures: Stability and function of G-quadruplex structures
-
Bochman, M. L., Paeschke, K., and Zakian, V. A. (2012) DNA secondary structures: stability and function of G-quadruplex structures. Nat. Rev. Genet. 13, 770-780
-
(2012)
Nat. Rev. Genet.
, vol.13
, pp. 770-780
-
-
Bochman, M.L.1
Paeschke, K.2
Zakian, V.A.3
-
11
-
-
77955791569
-
G-quadruplex nucleic acids and human disease
-
Wu, Y., and Brosh, R. M., Jr. (2010) G-quadruplex nucleic acids and human disease. FEBS J. 277, 3470-3488
-
(2010)
FEBS J.
, vol.277
, pp. 3470-3488
-
-
Wu, Y.1
Brosh, R.M.2
-
12
-
-
78049298053
-
G-quadruplex DNA sequences are evolutionarily conserved and associated with distinct genomic features in Saccharomyces cerevisiae
-
Capra, J. A., Paeschke, K., Singh, M., and Zakian, V. A. (2010) G-quadruplex DNA sequences are evolutionarily conserved and associated with distinct genomic features in Saccharomyces cerevisiae. PLoS Comput. Biol. 6, e1000861
-
(2010)
PLoS Comput. Biol.
, vol.6
, pp. e1000861
-
-
Capra, J.A.1
Paeschke, K.2
Singh, M.3
Zakian, V.A.4
-
13
-
-
84869477659
-
Mitochondrial DNA deletions are associated with non-B DNA conformations
-
Damas, J., Carneiro, J., Gonc¸alves, J., Stewart, J. B., Samuels, D. C., Amorim, A., and Pereira, F. (2012) Mitochondrial DNA deletions are associated with non-B DNA conformations. Nucleic Acids Res. 40, 7606-7621
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. 7606-7621
-
-
Damas, J.1
Carneiro, J.2
Gonc¸alves, J.3
Stewart, J.B.4
Samuels, D.C.5
Amorim, A.6
Pereira, F.7
-
14
-
-
84875515679
-
An appraisal of human mitochondrial DNA instability: New insights into the role of non-canonical DNA structures and sequence motifs
-
Oliveira, P. H., da Silva, C. L., and Cabral, J. M. (2013) An appraisal of human mitochondrial DNA instability: new insights into the role of non-canonical DNA structures and sequence motifs. PLoS One 8, e59907
-
(2013)
PLoS One
, vol.8
, pp. e59907
-
-
Oliveira, P.H.1
Da Silva, C.L.2
Cabral, J.M.3
-
15
-
-
38549092075
-
QuadBase: Genome-wide database of G4 DNA-occurrence and conservation in human, chimpanzee, mouse and rat promoters and 146 microbes
-
Yadav, V. K., Abraham, J. K., Mani, P., Kulshrestha, R., and Chowdhury, S. (2008) QuadBase: genome-wide database of G4 DNA-occurrence and conservation in human, chimpanzee, mouse and rat promoters and 146 microbes. Nucleic Acids Res. 36, D381-D385
-
(2008)
Nucleic Acids Res.
, vol.36
, pp. D381-D385
-
-
Yadav, V.K.1
Abraham, J.K.2
Mani, P.3
Kulshrestha, R.4
Chowdhury, S.5
-
16
-
-
27144440078
-
Thermal difference spectra: A specific signature for nucleic acid structures
-
Mergny, J. L., Li, J., Lacroix, L., Amrane, S., and Chaires, J. B. (2005) Thermal difference spectra: a specific signature for nucleic acid structures. Nucleic Acids Res. 33, e138
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. e138
-
-
Mergny, J.L.1
Li, J.2
Lacroix, L.3
Amrane, S.4
Chaires, J.B.5
-
17
-
-
84860379072
-
The human mitochondrial DNA helicase TWINKLE is both an unwinding and an annealing helicase
-
Sen, D., Nandakumar, D., Tang, G. Q., and Patel, S. S. (2012) The human mitochondrial DNA helicase TWINKLE is both an unwinding and an annealing helicase. J. Biol. Chem. 287, 14545-14556
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 14545-14556
-
-
Sen, D.1
Nandakumar, D.2
Tang, G.Q.3
Patel, S.S.4
-
18
-
-
84862663683
-
The Q motif of FANCJ DNA helicase regulates its dimerization, DNA binding, and DNA repair function
-
Wu, Y., Sommers, J. A., Loiland, J. A., Kitao, H., Kuper, J., Kisker, C., and Brosh, R. M. (2012) The Q motif of FANCJ DNA helicase regulates its dimerization, DNA binding, and DNA repair function. J. Biol. Chem. 287, 21699-21716
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 21699-21716
-
-
Wu, Y.1
Sommers, J.A.2
Loiland, J.A.3
Kitao, H.4
Kuper, J.5
Kisker, C.6
Brosh, R.M.7
-
19
-
-
0036753338
-
DnaB drives DNA branch migration and dislodges proteins while encircling two DNA strands
-
Kaplan, D. L., and O'Donnell, M. (2002) DnaB drives DNA branch migration and dislodges proteins while encircling two DNA strands. Mol. Cell 10, 647-657
-
(2002)
Mol. Cell
, vol.10
, pp. 647-657
-
-
Kaplan, D.L.1
O'Donnell, M.2
-
20
-
-
44949114282
-
FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability
-
Wu, Y., Shin-ya, K., and Brosh, R. M., Jr. (2008) FANCJ helicase defective in Fanconia anemia and breast cancer unwinds G-quadruplex DNA to defend genomic stability. Mol. Cell. Biol. 28, 4116-4128
-
(2008)
Mol. Cell. Biol.
, vol.28
, pp. 4116-4128
-
-
Wu, Y.1
Shin-ya, K.2
Brosh, R.M.3
-
21
-
-
77955253773
-
Genetic instability triggered by G-quadruplex interacting Phen-DC compounds in Saccharomyces cerevisiae
-
Piazza, A., Boulé, J. B., Lopes, J., Mingo, K., Largy, E., Teulade-Fichou, M. P., and Nicolas, A. (2010) Genetic instability triggered by G-quadruplex interacting Phen-DC compounds in Saccharomyces cerevisiae. Nucleic Acids Res. 38, 4337-4348
-
(2010)
Nucleic Acids Res.
, vol.38
, pp. 4337-4348
-
-
Piazza, A.1
Boulé, J.B.2
Lopes, J.3
Mingo, K.4
Largy, E.5
Teulade-Fichou, M.P.6
Nicolas, A.7
-
22
-
-
84870660365
-
Stimulation of gross chromosomal rearrangements by the human CEB1 and CEB25 minisatellites in Saccharomyces cerevisiae depends on G-quadruplexes or Cdc13
-
Piazza, A., Serero, A., Boulé, J. B., Legoix-Né, P., Lopes, J., and Nicolas, A. (2012) Stimulation of gross chromosomal rearrangements by the human CEB1 and CEB25 minisatellites in Saccharomyces cerevisiae depends on G-quadruplexes or Cdc13. PLoS Genet. 8, e1003033
-
(2012)
PLoS Genet.
, vol.8
, pp. e1003033
-
-
Piazza, A.1
Serero, A.2
Boulé, J.B.3
Legoix-Né, P.4
Lopes, J.5
Nicolas, A.6
-
23
-
-
80052445273
-
G4 resolvase 1 tightly binds and unwinds unimolecular G4-DNA
-
Giri, B., Smaldino, P. J., Thys, R. G., Creacy, S. D., Routh, E. D., Hantgan, R. R., Lattmann, S., Nagamine, Y., Akman, S. A., and Vaughn, J. P. (2011) G4 resolvase 1 tightly binds and unwinds unimolecular G4-DNA. Nucleic Acids Res. 39, 7161-7178
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 7161-7178
-
-
Giri, B.1
Smaldino, P.J.2
Thys, R.G.3
Creacy, S.D.4
Routh, E.D.5
Hantgan, R.R.6
Lattmann, S.7
Nagamine, Y.8
Akman, S.A.9
Vaughn, J.P.10
-
24
-
-
0037189485
-
Biochemical characterization of the DNA substrate specificity of Werner syndrome helicase
-
Brosh, R. M., Jr., Waheed, J., and Sommers, J. A. (2002) Biochemical characterization of the DNA substrate specificity of Werner syndrome helicase. J. Biol. Chem. 277, 23236-23245
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 23236-23245
-
-
Brosh, R.M.1
Waheed, J.2
Sommers, J.A.3
-
25
-
-
84861722500
-
DNA repair and replication fork helicases are differentially affected by alkyl phosphotriester lesion
-
Suhasini, A. N., Sommers, J. A., Yu, S., Wu, Y., Xu, T., Kelman, Z., Kaplan, D. L., and Brosh, R. M., Jr. (2012) DNA repair and replication fork helicases are differentially affected by alkyl phosphotriester lesion. J. Biol. Chem. 287, 19188-19198
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 19188-19198
-
-
Suhasini, A.N.1
Sommers, J.A.2
Yu, S.3
Wu, Y.4
Xu, T.5
Kelman, Z.6
Kaplan, D.L.7
Brosh, R.M.8
-
26
-
-
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. (2008) The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities. Nucleic Acids Res. 36, 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
-
27
-
-
0042326378
-
Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: Unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification
-
Van Goethem, G., Martin, J. J., and Van Broeckhoven, C. (2003) Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification. Neuromolecular Med. 3, 129-146
-
(2003)
Neuromolecular Med.
, vol.3
, pp. 129-146
-
-
Van Goethem, G.1
Martin, J.J.2
Van Broeckhoven, C.3
-
28
-
-
0023813744
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome
-
Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Schon, E. A., and Rowland, L. P. (1988) Deletions of mitochondrial DNA in Kearns-Sayre syndrome. Neurology 38, 1339-1346
-
(1988)
Neurology
, vol.38
, pp. 1339-1346
-
-
Zeviani, M.1
Moraes, C.T.2
DiMauro, S.3
Nakase, H.4
Bonilla, E.5
Schon, E.A.6
Rowland, L.P.7
-
29
-
-
0026180131
-
Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome
-
Rötig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J. M., Veerman, A., Pearson, H. A., and Munnich, A. (1991) Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome. Genomics 10, 502-504
-
(1991)
Genomics
, vol.10
, pp. 502-504
-
-
Rötig, A.1
Cormier, V.2
Koll, F.3
Mize, C.E.4
Saudubray, J.M.5
Veerman, A.6
Pearson, H.A.7
Munnich, A.8
-
30
-
-
0025044656
-
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA
-
Mita, S., Rizzuto, R., Moraes, C. T., Shanske, S., Arnaudo, E., Fabrizi, G. M., Koga, Y., DiMauro, S., and Schon, E. A. (1990) Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res. 18, 561-567
-
(1990)
Nucleic Acids Res.
, vol.18
, pp. 561-567
-
-
Mita, S.1
Rizzuto, R.2
Moraes, C.T.3
Shanske, S.4
Arnaudo, E.5
Fabrizi, G.M.6
Koga, Y.7
DiMauro, S.8
Schon, E.A.9
-
31
-
-
4143081492
-
Two direct repeats cause most human mtDNA deletions
-
Samuels, D. C., Schon, E. A., and Chinnery, P. F. (2004) Two direct repeats cause most human mtDNA deletions. Trends Genet. 20, 393-398
-
(2004)
Trends Genet.
, vol.20
, pp. 393-398
-
-
Samuels, D.C.1
Schon, E.A.2
Chinnery, P.F.3
-
32
-
-
84884526150
-
Mechanism of homologous recombination and implications for aging-related deletions in mitochondrial DNA
-
Chen, X. J. (2013) Mechanism of homologous recombination and implications for aging-related deletions in mitochondrial DNA. Microbiol. Mol. Biol. Rev. 77, 476-496
-
(2013)
Microbiol. Mol. Biol. Rev.
, vol.77
, pp. 476-496
-
-
Chen, X.J.1
-
33
-
-
80155174769
-
The generation of mitochondrial DNA large-scale deletions in human cells
-
Chen, T., He, J., Huang, Y., and Zhao, W. (2011) The generation of mitochondrial DNA large-scale deletions in human cells. J. Hum. Genet. 56, 689-694
-
(2011)
J. Hum. Genet.
, vol.56
, pp. 689-694
-
-
Chen, T.1
He, J.2
Huang, Y.3
Zhao, W.4
-
34
-
-
3242777099
-
Mitochondrial DNA and human thyroid diseases
-
Rogounovitch, T., Saenko, V., and Yamashita, S. (2004) Mitochondrial DNA and human thyroid diseases. Endocr. J. 51, 265-277
-
(2004)
Endocr. J.
, vol.51
, pp. 265-277
-
-
Rogounovitch, T.1
Saenko, V.2
Yamashita, S.3
-
35
-
-
0030030467
-
Novel mitochondrial DNA deletion found in a renal cell carcinoma
-
Horton, T. M., Petros, J. A., Heddi, A., Shoffner, J., Kaufman, A. E., Graham, S. D., Jr., Gramlich, T., and Wallace, D. C. (1996) Novel mitochondrial DNA deletion found in a renal cell carcinoma. Genes Chromosomes Cancer 15, 95-101
-
(1996)
Genes Chromosomes Cancer
, vol.15
, pp. 95-101
-
-
Horton, T.M.1
Petros, J.A.2
Heddi, A.3
Shoffner, J.4
Kaufman, A.E.5
Graham, S.D.6
Gramlich, T.7
Wallace, D.C.8
-
36
-
-
0026529192
-
Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor
-
Yamamoto, H., Tanaka, M., Katayama, M., Obayashi, T., Nimura, Y., and Ozawa, T. (1992) Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor. Biochem. Biophys. Res. Commun. 182, 913-920
-
(1992)
Biochem. Biophys. Res. Commun.
, vol.182
, pp. 913-920
-
-
Yamamoto, H.1
Tanaka, M.2
Katayama, M.3
Obayashi, T.4
Nimura, Y.5
Ozawa, T.6
-
37
-
-
33644647886
-
Mitochondrial DNA deletions serve as biomarkers of aging in the skin, but are typically absent in nonmelanoma skin cancers
-
Eshaghian, A., Vleugels, R. A., Canter, J. A., McDonald, M. A., Stasko, T., and Sligh, J. E. (2006) Mitochondrial DNA deletions serve as biomarkers of aging in the skin, but are typically absent in nonmelanoma skin cancers. J. Invest. Dermatol. 126, 336-344
-
(2006)
J. Invest. Dermatol.
, vol.126
, pp. 336-344
-
-
Eshaghian, A.1
Vleugels, R.A.2
Canter, J.A.3
McDonald, M.A.4
Stasko, T.5
Sligh, J.E.6
-
38
-
-
33646351299
-
Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons
-
Kraytsberg, Y., Kudryavtseva, E., McKee, A. C., Geula, C., Kowall, N. W., and Khrapko, K. (2006) Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons. Nat. Genet. 38, 518-520
-
(2006)
Nat. Genet.
, vol.38
, pp. 518-520
-
-
Kraytsberg, Y.1
Kudryavtseva, E.2
McKee, A.C.3
Geula, C.4
Kowall, N.W.5
Khrapko, K.6
-
39
-
-
34548646396
-
The relationship of Parkinson disease with aging
-
Levy, G. (2007) The relationship of Parkinson disease with aging. Arch. Neurol. 64, 1242-1246
-
(2007)
Arch. Neurol.
, vol.64
, pp. 1242-1246
-
-
Levy, G.1
-
40
-
-
64549099313
-
Circular dichroism and conformational polymorphism of DNA
-
Kypr, J., Kejnovská, I., Renciuk, D., and Vorlícková, M. (2009) Circular dichroism and conformational polymorphism of DNA. Nucleic Acids Res. 37, 1713-1725
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 1713-1725
-
-
Kypr, J.1
Kejnovská, I.2
Renciuk, D.3
Vorlícková, M.4
-
41
-
-
67749124298
-
Structure of the human telomere in K+ solution: A stable basket-type G-quadruplex with only two G-tetrad layers
-
Lim, K. W., Amrane, S., Bouaziz, S., Xu, W., Mu, Y., Patel, D. J,, Luu, K. N., and Phan, A. T. (2009) Structure of the human telomere in K+ solution: a stable basket-type G-quadruplex with only two G-tetrad layers. J. Am. Chem. Soc. 131, 4301-4309
-
(2009)
J. Am. Chem. Soc.
, vol.131
, pp. 4301-4309
-
-
Lim, K.W.1
Amrane, S.2
Bouaziz, S.3
Xu, W.4
Mu, Y.5
Patel, D.J.6
Luu, K.N.7
Phan, A.T.8
-
42
-
-
0032508468
-
Following G-quartet formation by UV-spectroscopy
-
Mergny, J. L., Phan, A. T., and Lacroix, L. (1998) Following G-quartet formation by UV-spectroscopy. FEBS Lett. 435, 74-78
-
(1998)
FEBS Lett.
, vol.435
, pp. 74-78
-
-
Mergny, J.L.1
Phan, A.T.2
Lacroix, L.3
-
43
-
-
84893317772
-
Replication factors transiently associate with mtDNA at the mitochondrial inner membrane to facilitate replication
-
Rajala, N., Gerhold, J. M., Martinsson, P., Klymov, A., and Spelbrink, J. N. (2014) Replication factors transiently associate with mtDNA at the mitochondrial inner membrane to facilitate replication. Nucleic Acids Res. 42, 952-967
-
(2014)
Nucleic Acids Res.
, vol.42
, pp. 952-967
-
-
Rajala, N.1
Gerhold, J.M.2
Martinsson, P.3
Klymov, A.4
Spelbrink, J.N.5
-
44
-
-
53049089197
-
Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase
-
Matsushima, Y., Farr, C. L., Fan, L., and Kaguni, L. S. (2008) Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase. J. Biol. Chem. 283, 23964-23971
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 23964-23971
-
-
Matsushima, Y.1
Farr, C.L.2
Fan, L.3
Kaguni, L.S.4
-
45
-
-
0033786801
-
Structure and function of hexameric helicases
-
Patel, S. S., and Picha, K. M. (2000) Structure and function of hexameric helicases. Annu. Rev. Biochem. 69, 651-697
-
(2000)
Annu. Rev. Biochem.
, vol.69
, pp. 651-697
-
-
Patel, S.S.1
Picha, K.M.2
-
46
-
-
84884771159
-
Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability
-
Bharti, S. K., Sommers, J. A., George, F., Kuper, J., Hamon, F., Shin-ya, K., Teulade-Fichou, M. P., Kisker, C., and Brosh, R. M., Jr. (2013) Specialization among iron-sulfur cluster helicases to resolve G-quadruplex DNA structures that threaten genomic stability. J. Biol. Chem. 288, 28217-28229
-
(2013)
J. Biol. Chem.
, vol.288
, pp. 28217-28229
-
-
Bharti, S.K.1
Sommers, J.A.2
George, F.3
Kuper, J.4
Hamon, F.5
Shin-ya, K.6
Teulade-Fichou, M.P.7
Kisker, C.8
Brosh, R.M.9
-
47
-
-
39749124232
-
What causes mitochondrial DNA deletions in human cells?
-
Krishnan, K. J., Reeve, A. K., Samuels, D. C., Chinnery, P. F., Blackwood, J. K., Taylor, R. W., Wanrooij, S., Spelbrink, J. N., Lightowlers, R. N., and Turnbull, D. M. (2008) What causes mitochondrial DNA deletions in human cells? Nat. Genet. 40, 275-279
-
(2008)
Nat. Genet.
, vol.40
, pp. 275-279
-
-
Krishnan, K.J.1
Reeve, A.K.2
Samuels, D.C.3
Chinnery, P.F.4
Blackwood, J.K.5
Taylor, R.W.6
Wanrooij, S.7
Spelbrink, J.N.8
Lightowlers, R.N.9
Turnbull, D.M.10
-
48
-
-
83755205842
-
Defects in mitochondrial DNA replication and human disease
-
Copeland, W. C. (2012) Defects in mitochondrial DNA replication and human disease. Crit. Rev. Biochem. Mol. Biol. 47, 64-74
-
(2012)
Crit. Rev. Biochem. Mol. Biol.
, vol.47
, pp. 64-74
-
-
Copeland, W.C.1
-
49
-
-
84878473819
-
Subnormal levels of POL γ cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia
-
Roos, S., Macao, B., Fusté, J. M., Lindberg, C., Jemt, E., Holme, E., Moslemi, A. R., Oldfors, A., and Falkenberg, M. (2013) Subnormal levels of POL γ cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia. Hum. Mol. Genet. 22, 2411-2422
-
(2013)
Hum. Mol. Genet.
, vol.22
, pp. 2411-2422
-
-
Roos, S.1
Macao, B.2
Fusté, J.M.3
Lindberg, C.4
Jemt, E.5
Holme, E.6
Moslemi, A.R.7
Oldfors, A.8
Falkenberg, M.9
-
50
-
-
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. (2004) Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res. 32, 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
-
51
-
-
0036896111
-
Large deletions in mitochondrial DNA in radiation-associated human thyroid tumors
-
Rogounovitch, T. I., Saenko, V. A., Shimizu-Yoshida, Y., Abrosimov, A. Y., Lushnikov, E. F., Roumiantsev, P. O., Ohtsuru, A., Namba, H., Tsyb, A. F., and Yamashita, S. (2002) Large deletions in mitochondrial DNA in radiation-associated human thyroid tumors. Cancer Res. 62, 7031-7041
-
(2002)
Cancer Res.
, vol.62
, pp. 7031-7041
-
-
Rogounovitch, T.I.1
Saenko, V.A.2
Shimizu-Yoshida, Y.3
Abrosimov, A.Y.4
Lushnikov, E.F.5
Roumiantsev, P.O.6
Ohtsuru, A.7
Namba, H.8
Tsyb, A.F.9
Yamashita, S.10
-
52
-
-
84857393438
-
Association of mitochondrial DNA variations with lung cancer risk in a Han Chinese population from southwestern China
-
Zheng, S., Qian, P., Li, F., Qian, G., Wang, C., Wu, G., Li, Q., Chen, Y., Li, J., Li, H., He, B., and Ji, F. (2012) Association of mitochondrial DNA variations with lung cancer risk in a Han Chinese population from southwestern China. PLoS One 7, e31322
-
(2012)
PLoS One
, vol.7
, pp. e31322
-
-
Zheng, S.1
Qian, P.2
Li, F.3
Qian, G.4
Wang, C.5
Wu, G.6
Li, Q.7
Chen, Y.8
Li, J.9
Li, H.10
He, B.11
Ji, F.12
-
53
-
-
77049308856
-
Aging: A theory based on free radical and radiation chemistry
-
Harman, D. (1956) Aging: a theory based on free radical and radiation chemistry. J. Gerontol. 11, 298-300
-
(1956)
J. Gerontol.
, vol.11
, pp. 298-300
-
-
Harman, D.1
-
54
-
-
2642580016
-
Premature ageing in mice expressing defective mitochondrial DNA polymerase
-
Trifunovic, A., Wredenberg, A., Falkenberg, M., Spelbrink, J. N., Rovio, A. T., Bruder, C. E., Bohlooly-Y, M., Gidlöf, S., Oldfors, A., Wibom, R., Törnell, J., Jacobs, H. T., and Larsson, N. G. (2004) Premature ageing in mice expressing defective mitochondrial DNA polymerase. Nature 429, 417-423
-
(2004)
Nature
, vol.429
, pp. 417-423
-
-
Trifunovic, A.1
Wredenberg, A.2
Falkenberg, M.3
Spelbrink, J.N.4
Rovio, A.T.5
Bruder, C.E.6
Bohlooly-Y, M.7
Gidlöf, S.8
Oldfors, A.9
Wibom, R.10
Törnell, J.11
Jacobs, H.T.12
Larsson, N.G.13
-
55
-
-
0027166063
-
In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria
-
Madsen, C. S., Ghivizzani, S. C., and Hauswirth, W. W. (1993) In vivo and in vitro evidence for slipped mispairing in mammalian mitochondria. Proc. Natl. Acad. Sci. U.S.A. 90, 7671-7675
-
(1993)
Proc. Natl. Acad. Sci. U.S.A.
, vol.90
, pp. 7671-7675
-
-
Madsen, C.S.1
Ghivizzani, S.C.2
Hauswirth, W.W.3
-
56
-
-
65549089595
-
Effect of monovalent cations and G-quadruplex structures on the outcome of intramolecular homologous recombination
-
Barros, P., Boan, F., Blanco, M. G., and Gomez-Marquez, J. (2009) Effect of monovalent cations and G-quadruplex structures on the outcome of intramolecular homologous recombination. FEBS J. 276, 2983-2993
-
(2009)
FEBS J.
, vol.276
, pp. 2983-2993
-
-
Barros, P.1
Boan, F.2
Blanco, M.G.3
Gomez-Marquez, J.4
-
57
-
-
84924748832
-
Molecular markers in anthropological genetic studies
-
Cambridge University Press, Cambridge, UK
-
Rubicz, R., Melton, P. E., and Crawford, M. H. (2007) Molecular markers in anthropological genetic studies, in Anthropological Genetics, pp. 141-186, Cambridge University Press, Cambridge, UK
-
(2007)
Anthropological Genetics
, pp. 141-186
-
-
Rubicz, R.1
Melton, P.E.2
Crawford, M.H.3
-
58
-
-
1242343800
-
Mitochondrial DNA variation and the origins of the Aleuts
-
Rubicz, R., Schurr, T. G., Babb, P. L., and Crawford, M. H. (2003) Mitochondrial DNA variation and the origins of the Aleuts. Hum. Biol. 75, 809-835
-
(2003)
Hum. Biol.
, vol.75
, pp. 809-835
-
-
Rubicz, R.1
Schurr, T.G.2
Babb, P.L.3
Crawford, M.H.4
-
59
-
-
0028518706
-
Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians
-
Lorenz, J. G., and Smith, D. G. (1994) Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians. Hum. Biol. 66, 777-788
-
(1994)
Hum. Biol.
, vol.66
, pp. 777-788
-
-
Lorenz, J.G.1
Smith, D.G.2
-
60
-
-
84903135154
-
mtDNA mutations and their role in aging, diseases and forensic sciences
-
Zapico, S. C., and Ubelaker, D. H. (2013) mtDNA mutations and their role in aging, diseases and forensic sciences. Aging Dis. 4, 364-380
-
(2013)
Aging Dis.
, vol.4
, pp. 364-380
-
-
Zapico, S.C.1
Ubelaker, D.H.2
-
61
-
-
84897057195
-
Helicase and polymerase move together close to the fork junction and copy DNA in one-nucleotide steps
-
Pandey, M., and Patel, S. S. (2014) Helicase and polymerase move together close to the fork junction and copy DNA in one-nucleotide steps. Cell Rep. 6, 1129-1138
-
(2014)
Cell Rep.
, vol.6
, pp. 1129-1138
-
-
Pandey, M.1
Patel, S.S.2
-
62
-
-
80053611613
-
G-quadruplex-induced instability during leading-strand replication
-
Lopes, J., Piazza, A., Bermejo, R., Kriegsman, B., Colosio, A., Teulade-Fichou, M. P., Foiani, M., and Nicolas, A. (2011) G-quadruplex-induced instability during leading-strand replication. EMBO J. 30, 4033-4046
-
(2011)
EMBO J.
, vol.30
, pp. 4033-4046
-
-
Lopes, J.1
Piazza, A.2
Bermejo, R.3
Kriegsman, B.4
Colosio, A.5
Teulade-Fichou, M.P.6
Foiani, M.7
Nicolas, A.8
-
63
-
-
79957556530
-
DNA replication through G-quadruplex motifs is promoted by the Saccharomyces cerevisiae Pif1 DNA helicase
-
Paeschke, K., Capra, J. A., and Zakian, V. A. (2011) DNA replication through G-quadruplex motifs is promoted by the Saccharomyces cerevisiae Pif1 DNA helicase. Cell 145, 678-691
-
(2011)
Cell
, vol.145
, pp. 678-691
-
-
Paeschke, K.1
Capra, J.A.2
Zakian, V.A.3
-
64
-
-
84878122437
-
Pif1 family helicases suppress genome instability at G-quadruplex motifs
-
Paeschke, K., Bochman, M. L., Garcia, P. D., Cejka, P., Friedman, K. L., Kowalczykowski, S. C., and Zakian, V. A. (2013) Pif1 family helicases suppress genome instability at G-quadruplex motifs. Nature 497, 458-462
-
(2013)
Nature
, vol.497
, pp. 458-462
-
-
Paeschke, K.1
Bochman, M.L.2
Garcia, P.D.3
Cejka, P.4
Friedman, K.L.5
Kowalczykowski, S.C.6
Zakian, V.A.7
-
65
-
-
67149126812
-
The yeast Pif1 helicase prevents genomic instability caused by G-quadruplex-forming CEB1 sequences in vivo
-
Ribeyre, C., Lopes, J., Boulé, J. B., Piazza, A., Guédin, A., Zakian, V. A., Mergny, J. L., and Nicolas, A. (2009) The yeast Pif1 helicase prevents genomic instability caused by G-quadruplex-forming CEB1 sequences in vivo. PLoS Genet. 5, e1000475
-
(2009)
PLoS Genet.
, vol.5
, pp. e1000475
-
-
Ribeyre, C.1
Lopes, J.2
Boulé, J.B.3
Piazza, A.4
Guédin, A.5
Zakian, V.A.6
Mergny, J.L.7
Nicolas, A.8
-
66
-
-
84858315982
-
DNA replication through hard-to-replicate sites, including both highly transcribed RNA Pol II and Pol III genes, requires the S. Pombe Pfh1 helicase
-
Sabouri, N., McDonald, K. R., Webb, C. J., Cristea, I. M., and Zakian, V. A. (2012) DNA replication through hard-to-replicate sites, including both highly transcribed RNA Pol II and Pol III genes, requires the S. pombe Pfh1 helicase. Genes Dev. 26, 581-593
-
(2012)
Genes Dev.
, vol.26
, pp. 581-593
-
-
Sabouri, N.1
McDonald, K.R.2
Webb, C.J.3
Cristea, I.M.4
Zakian, V.A.5
-
67
-
-
77955487510
-
Human Pif1 helicase is a G-quadruplex DNA-binding protein with G-quadruplex DNA-unwinding activity
-
Sanders, C. M. (2010) Human Pif1 helicase is a G-quadruplex DNA-binding protein with G-quadruplex DNA-unwinding activity. Biochem. J. 430, 119-128
-
(2010)
Biochem. J.
, vol.430
, pp. 119-128
-
-
Sanders, C.M.1
-
68
-
-
0029112165
-
The S. Cerevisiae nuclear gene SUV3 encoding a putative RNA helicase is necessary for the stability of mitochondrial transcripts containing multiple introns
-
Golik, P., Szczepanek, T., Bartnik, E., Stepien, P. P., and Lazowska, J. (1995) The S. cerevisiae nuclear gene SUV3 encoding a putative RNA helicase is necessary for the stability of mitochondrial transcripts containing multiple introns. Curr. Genet. 28, 217-224
-
(1995)
Curr. Genet.
, vol.28
, pp. 217-224
-
-
Golik, P.1
Szczepanek, T.2
Bartnik, E.3
Stepien, P.P.4
Lazowska, J.5
-
69
-
-
0026736197
-
The yeast nuclear gene suv3 affecting mitochondrial post-transcriptional processes encodes a putative ATP-dependent RNA helicase
-
Stepien, P. P., Margossian, S. P., Landsman, D., and Butow, R. A. (1992) The yeast nuclear gene suv3 affecting mitochondrial post-transcriptional processes encodes a putative ATP-dependent RNA helicase. Proc. Natl. Acad. Sci. U.S.A. 89, 6813-6817
-
(1992)
Proc. Natl. Acad. Sci. U.S.A.
, vol.89
, pp. 6813-6817
-
-
Stepien, P.P.1
Margossian, S.P.2
Landsman, D.3
Butow, R.A.4
-
70
-
-
67651215883
-
Human Dna2 is a nuclear and mitochondrial DNA maintenance protein
-
Duxin, J. P., Dao, B., Martinsson, P., Rajala, N., Guittat, L., Campbell, J. L., Spelbrink, J. N., and Stewart, S. A. (2009) Human Dna2 is a nuclear and mitochondrial DNA maintenance protein. Mol. Cell. Biol. 29, 4274-4282
-
(2009)
Mol. Cell. Biol.
, vol.29
, pp. 4274-4282
-
-
Duxin, J.P.1
Dao, B.2
Martinsson, P.3
Rajala, N.4
Guittat, L.5
Campbell, J.L.6
Spelbrink, J.N.7
Stewart, S.A.8
-
71
-
-
55049112210
-
Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates
-
Zheng, L., Zhou, M., Guo, Z., Lu, H., Qian, L., Dai, H., Qiu, J., Yakubovskaya, E., Bogenhagen, D. F., Demple, B., and Shen, B. (2008) Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates. Mol. Cell 32, 325-336
-
(2008)
Mol. Cell
, vol.32
, pp. 325-336
-
-
Zheng, L.1
Zhou, M.2
Guo, Z.3
Lu, H.4
Qian, L.5
Dai, H.6
Qiu, J.7
Yakubovskaya, E.8
Bogenhagen, D.F.9
Demple, B.10
Shen, B.11
-
72
-
-
84878625912
-
Mammalian DNA2 helicase/nuclease cleaves G-quadruplex DNA and is required for telomere integrity
-
Lin, W., Sampathi, S., Dai, H., Liu, C., Zhou, M., Hu, J., Huang, Q., Campbell, J., Shin-Ya, K., Zheng, L., Chai, W., and Shen, B. (2013) Mammalian DNA2 helicase/nuclease cleaves G-quadruplex DNA and is required for telomere integrity. EMBO J. 32, 1425-1439
-
(2013)
EMBO J.
, vol.32
, pp. 1425-1439
-
-
Lin, W.1
Sampathi, S.2
Dai, H.3
Liu, C.4
Zhou, M.5
Hu, J.6
Huang, Q.7
Campbell, J.8
Shin-Ya, K.9
Zheng, L.10
Chai, W.11
Shen, B.12
-
73
-
-
54049111459
-
Processing of G4 DNA by Dna2 helicase/nuclease and replication protein A (RPA) provides insights into the mechanism of Dna2/RPA substrate recognition
-
Masuda-Sasa, T., Polaczek, P., Peng, X. P., Chen, L., and Campbell, J. L. (2008) Processing of G4 DNA by Dna2 helicase/nuclease and replication protein A (RPA) provides insights into the mechanism of Dna2/RPA substrate recognition. J. Biol. Chem. 283, 24359-24373
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 24359-24373
-
-
Masuda-Sasa, T.1
Polaczek, P.2
Peng, X.P.3
Chen, L.4
Campbell, J.L.5
-
74
-
-
84873713785
-
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability
-
Ronchi, D., Di Fonzo, A., Lin, W., Bordoni, A., Liu, C., Fassone, E., Pagliarani, S., Rizzuti, M., Zheng, L., Filosto, M., Ferrò, M. T., Ranieri, M., Magri, F., Peverelli, L., Li, H., Yuan, Y. C., Corti, S., Sciacco, M., Moggio, M., Bresolin, N., Shen, B., and Comi, G. P. (2013) Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability. Am. J. Hum. Genet. 92, 293-300
-
(2013)
Am. J. Hum. Genet.
, vol.92
, pp. 293-300
-
-
Ronchi, D.1
Di Fonzo, A.2
Lin, W.3
Bordoni, A.4
Liu, C.5
Fassone, E.6
Pagliarani, S.7
Rizzuti, M.8
Zheng, L.9
Filosto, M.10
Ferrò, M.T.11
Ranieri, M.12
Magri, F.13
Peverelli, L.14
Li, H.15
Yuan, Y.C.16
Corti, S.17
Sciacco, M.18
Moggio, M.19
Bresolin, N.20
Shen, B.21
Comi, G.P.22
more..
-
75
-
-
0034671853
-
Interaction of human DNA topoisomerase I with G-quartet structures
-
Arimondo, P. B., Riou, J. F., Mergny, J. L., Tazi, J., Sun, J. S., Garestier, T., and Hélène, C. (2000) Interaction of human DNA topoisomerase I with G-quartet structures. Nucleic Acids Res. 28, 4832-4838
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 4832-4838
-
-
Arimondo, P.B.1
Riou, J.F.2
Mergny, J.L.3
Tazi, J.4
Sun, J.S.5
Garestier, T.6
Hélène, C.7
-
76
-
-
0035845529
-
Human mitochondrial topoisomerase I
-
Zhang, H., Barceló, J. M., Lee, B., Kohlhagen, G., Zimonjic, D. B., Popescu, N. C., and Pommier, Y. (2001) Human mitochondrial topoisomerase I. Proc. Natl. Acad. Sci. U.S.A. 98, 10608-10613
-
(2001)
Proc. Natl. Acad. Sci. U.S.A.
, vol.98
, pp. 10608-10613
-
-
Zhang, H.1
Barceló, J.M.2
Lee, B.3
Kohlhagen, G.4
Zimonjic, D.B.5
Popescu, N.C.6
Pommier, Y.7
-
77
-
-
77958007950
-
G-quadruplex structures in RNA stimulate mitochondrial transcription termination and primer formation
-
Wanrooij, P. H., Uhler, J. P., Simonsson, T., Falkenberg, M., and Gustafsson, C. M. (2010) G-quadruplex structures in RNA stimulate mitochondrial transcription termination and primer formation. Proc. Natl. Acad. Sci. U.S.A. 107, 16072-16077
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 16072-16077
-
-
Wanrooij, P.H.1
Uhler, J.P.2
Simonsson, T.3
Falkenberg, M.4
Gustafsson, C.M.5
-
78
-
-
84869006723
-
A hybrid G-quadruplex structure formed between RNA and DNA explains the extraordinary stability of the mitochondrial R-loop
-
Wanrooij, P. H., Uhler, J. P., Shi, Y., Westerlund, F., Falkenberg, M., and Gustafsson, C. M. (2012) A hybrid G-quadruplex structure formed between RNA and DNA explains the extraordinary stability of the mitochondrial R-loop. Nucleic Acids Res. 40, 10334-10344
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. 10334-10344
-
-
Wanrooij, P.H.1
Uhler, J.P.2
Shi, Y.3
Westerlund, F.4
Falkenberg, M.5
Gustafsson, C.M.6
-
79
-
-
0028917766
-
A persistent RNA-DNA hybrid is formed during transcription at a phylogenetically conserved mitochondrial DNA sequence
-
Xu, B., and Clayton, D. A. (1995) A persistent RNA-DNA hybrid is formed during transcription at a phylogenetically conserved mitochondrial DNA sequence. Mol. Cell. Biol. 15, 580-589
-
(1995)
Mol. Cell. Biol.
, vol.15
, pp. 580-589
-
-
Xu, B.1
Clayton, D.A.2
-
80
-
-
84864313793
-
The interface of transcription and DNA replication in the mitochondria
-
Kasiviswanathan, R., Collins, T. R., and Copeland, W. C. (2012) The interface of transcription and DNA replication in the mitochondria. Biochim. Biophys. Acta 1819, 970-978
-
(2012)
Biochim. Biophys. Acta
, vol.1819
, pp. 970-978
-
-
Kasiviswanathan, R.1
Collins, T.R.2
Copeland, W.C.3
-
81
-
-
77449156015
-
Probing telomeric G-quadruplex DNA structures in cells with in vitro generated single-chain antibody fragments
-
Schaffitzel, C., Postberg, J., Paeschke, K., and Lipps, H. J. (2010) Probing telomeric G-quadruplex DNA structures in cells with in vitro generated single-chain antibody fragments. Methods Mol. Biol. 608, 159-181
-
(2010)
Methods Mol. Biol.
, vol.608
, pp. 159-181
-
-
Schaffitzel, C.1
Postberg, J.2
Paeschke, K.3
Lipps, H.J.4
-
82
-
-
84875874755
-
Visualizing the quadruplex: From fluorescent ligands to light-up probes
-
Largy, E., Granzhan, A., Hamon, F., Verga, D., and Teulade-Fichou, M. P. (2013) Visualizing the quadruplex: from fluorescent ligands to light-up probes. Top. Curr. Chem. 330, 111-177
-
(2013)
Top. Curr. Chem.
, vol.330
, pp. 111-177
-
-
Largy, E.1
Granzhan, A.2
Hamon, F.3
Verga, D.4
Teulade-Fichou, M.P.5
-
83
-
-
84890345112
-
In-cell optical imaging of exogenous G-quadruplex DNA by fluorogenic ligands
-
Tseng, T. Y., Wang, Z. F., Chien, C. H., and Chang, T. C. (2013) In-cell optical imaging of exogenous G-quadruplex DNA by fluorogenic ligands. Nucleic Acids Res. 41, 10605-10618
-
(2013)
Nucleic Acids Res.
, vol.41
, pp. 10605-10618
-
-
Tseng, T.Y.1
Wang, Z.F.2
Chien, C.H.3
Chang, T.C.4
-
84
-
-
0029147133
-
Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome
-
Rötig, A., Bourgeron, T., Chretien, D., Rustin, P., and Munnich, A. (1995) Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. Hum. Mol. Genet. 4, 1327-1330
-
(1995)
Hum. Mol. Genet.
, vol.4
, pp. 1327-1330
-
-
Rötig, A.1
Bourgeron, T.2
Chretien, D.3
Rustin, P.4
Munnich, A.5
-
85
-
-
0026099983
-
Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: Genetic, biochemical, and morphological studies
-
Degoul, F., Nelson, I., Lestienne, P., Francois, D., Romero, N., Duboc, D., Eymard, B., Fardeau, M., Ponsot, G., and Paturneau-Jouas, M. (1991) Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical, and morphological studies. J. Neurol. Sci. 101, 168-177
-
(1991)
J. Neurol. Sci.
, vol.101
, pp. 168-177
-
-
Degoul, F.1
Nelson, I.2
Lestienne, P.3
Francois, D.4
Romero, N.5
Duboc, D.6
Eymard, B.7
Fardeau, M.8
Ponsot, G.9
Paturneau-Jouas, M.10
-
87
-
-
46149108796
-
Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions
-
Yamashita, S., Nishino, I., Nonaka, I., and Goto, Y. (2008) Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J. Hum. Genet. 53, 598-606
-
(2008)
J. Hum. Genet.
, vol.53
, pp. 598-606
-
-
Yamashita, S.1
Nishino, I.2
Nonaka, I.3
Goto, Y.4
-
88
-
-
0026849690
-
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion
-
Ballinger, S. W., Shoffner, J. M., Hedaya, E. V., Trounce, I., Polak, M. A., Koontz, D. A., and Wallace, D. C. (1992) Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat. Genet. 1, 11-15
-
(1992)
Nat. Genet.
, vol.1
, pp. 11-15
-
-
Ballinger, S.W.1
Shoffner, J.M.2
Hedaya, E.V.3
Trounce, I.4
Polak, M.A.5
Koontz, D.A.6
Wallace, D.C.7
-
89
-
-
0029024548
-
Mitochondrial diabetes mellitus: A review
-
Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A., and Jaksch, M. (1995) Mitochondrial diabetes mellitus: a review. Biochim. Biophys. Acta 1271, 253-260
-
(1995)
Biochim. Biophys. Acta
, vol.1271
, pp. 253-260
-
-
Gerbitz, K.D.1
Van Den Ouweland, J.M.2
Maassen, J.A.3
Jaksch, M.4
-
90
-
-
0025373850
-
Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: Implications for pathogenesis
-
Nakase, H., Moraes, C. T., Rizzuto, R., Lombes, A., DiMauro, S., and Schon, E. A. (1990) Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis. Am. J. Hum. Genet. 46, 418-427
-
(1990)
Am. J. Hum. Genet.
, vol.46
, pp. 418-427
-
-
Nakase, H.1
Moraes, C.T.2
Rizzuto, R.3
Lombes, A.4
DiMauro, S.5
Schon, E.A.6
-
91
-
-
0025727366
-
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes
-
Zupanc, M. L., Moraes, C. T., Shanske, S., Langman, C. B., Ciafaloni, E., and DiMauro, S. (1991) Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes. Ann. Neurol. 29, 680-683
-
(1991)
Ann. Neurol.
, vol.29
, pp. 680-683
-
-
Zupanc, M.L.1
Moraes, C.T.2
Shanske, S.3
Langman, C.B.4
Ciafaloni, E.5
DiMauro, S.6
-
92
-
-
0026693827
-
Multiple short direct repeats associated with single mtDNA deletions
-
Larsson, N. G., and Holme, E. (1992) Multiple short direct repeats associated with single mtDNA deletions. Biochim. Biophys. Acta 1139, 311-314
-
(1992)
Biochim. Biophys. Acta
, vol.1139
, pp. 311-314
-
-
Larsson, N.G.1
Holme, E.2
-
93
-
-
0024342089
-
Directly repeated sequences associated with pathogenic mitochondrial DNA deletions
-
Johns, D. R., Rutledge, S. L., Stine, O. C., and Hurko, O. (1989) Directly repeated sequences associated with pathogenic mitochondrial DNA deletions. Proc. Natl. Acad. Sci. U.S.A. 86, 8059-8062
-
(1989)
Proc. Natl. Acad. Sci. U.S.A.
, vol.86
, pp. 8059-8062
-
-
Johns, D.R.1
Rutledge, S.L.2
Stine, O.C.3
Hurko, O.4
-
94
-
-
0026879730
-
Transcription of deleted mitochondrial DNA in human colon adenocarcinoma cells
-
Savre-Train, I., Piatyszek, M. A., and Shay, J. W. (1992) Transcription of deleted mitochondrial DNA in human colon adenocarcinoma cells. Hum. Mol. Genet. 1, 203-204
-
(1992)
Hum. Mol. Genet.
, vol.1
, pp. 203-204
-
-
Savre-Train, I.1
Piatyszek, M.A.2
Shay, J.W.3
-
95
-
-
1542345767
-
Somatic mutations in the D-loop and decrease in the copy number of mitochondrial DNA in human hepatocellular carcinoma
-
Lee, H. C., Li, S. H., Lin, J. C., Wu, C. C., Yeh, D. C., and Wei, Y. H. (2004) Somatic mutations in the D-loop and decrease in the copy number of mitochondrial DNA in human hepatocellular carcinoma. Mutat. Res. 547, 71-78
-
(2004)
Mutat. Res.
, vol.547
, pp. 71-78
-
-
Lee, H.C.1
Li, S.H.2
Lin, J.C.3
Wu, C.C.4
Yeh, D.C.5
Wei, Y.H.6
-
96
-
-
77955426831
-
A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles
-
Mkaouar-Rebai, E., Chamkha, I., Kammoun, T., Chabchoub, I., Aloulou, H., Fendri, N., Hachicha, M., and Fakhfakh, F. (2010) A case of Kearns-Sayre syndrome with two novel deletions (9.768 and 7.253 kb) of the mtDNA associated with the common deletion in blood leukocytes, buccal mucosa and hair follicles. Mitochondrion 10, 449-455
-
(2010)
Mitochondrion
, vol.10
, pp. 449-455
-
-
Mkaouar-Rebai, E.1
Chamkha, I.2
Kammoun, T.3
Chabchoub, I.4
Aloulou, H.5
Fendri, N.6
Hachicha, M.7
Fakhfakh, F.8
-
97
-
-
0035160315
-
Quantification and sequencing of somatic deleted mtDNA in single cells: Evidence for partially duplicated mtDNA in aged human tissues
-
Bodyak, N. D., Nekhaeva, E., Wei, J. Y., and Khrapko, K. (2001) Quantification and sequencing of somatic deleted mtDNA in single cells: evidence for partially duplicated mtDNA in aged human tissues. Hum. Mol. Genet. 10, 17-24
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 17-24
-
-
Bodyak, N.D.1
Nekhaeva, E.2
Wei, J.Y.3
Khrapko, K.4
-
98
-
-
33748643416
-
Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers
-
Bua, E., Johnson, J., Herbst, A., Delong, B., McKenzie, D., Salamat, S., and Aiken, J. M. (2006) Mitochondrial DNA-deletion mutations accumulate intracellularly to detrimental levels in aged human skeletal muscle fibers. Am. J. Hum. Genet. 79, 469-480
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 469-480
-
-
Bua, E.1
Johnson, J.2
Herbst, A.3
Delong, B.4
McKenzie, D.5
Salamat, S.6
Aiken, J.M.7
-
99
-
-
38749102795
-
Nature of mitochondrial DNA deletions in substantia nigra neurons
-
Reeve, A. K., Krishnan, K. J., Elson, J. L., Morris, C. M., Bender, A., Light-owlers, R. N., and Turnbull D. M. (2008) Nature of mitochondrial DNA deletions in substantia nigra neurons. Am. J. Hum. Genet. 82, 228-235
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 228-235
-
-
Reeve, A.K.1
Krishnan, K.J.2
Elson, J.L.3
Morris, C.M.4
Bender, A.5
Light-owlers, R.N.6
Turnbull, D.M.7
-
100
-
-
40649104716
-
Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue
-
Markaryan, A., Nelson, E. G., and Hinojosa, R. (2008) Detection of mitochondrial DNA deletions in the cochlea and its structural elements from archival human temporal bone tissue. Mutat. Res. 640, 38-45
-
(2008)
Mutat. Res.
, vol.640
, pp. 38-45
-
-
Markaryan, A.1
Nelson, E.G.2
Hinojosa, R.3
-
101
-
-
33646375711
-
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease
-
Bender, A., Krishnan, K. J., Morris, C. M., Taylor, G. A., Reeve, A. K., Perry, R. H., Jaros, E., Hersheson, J. S., Betts, J., Klopstock, T., Taylor, R. W., and Turnbull, D. M. (2006) High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease. Nat. Genet. 38, 515-517
-
(2006)
Nat. Genet.
, vol.38
, pp. 515-517
-
-
Bender, A.1
Krishnan, K.J.2
Morris, C.M.3
Taylor, G.A.4
Reeve, A.K.5
Perry, R.H.6
Jaros, E.7
Hersheson, J.S.8
Betts, J.9
Klopstock, T.10
Taylor, R.W.11
Turnbull, D.M.12
-
102
-
-
0026340875
-
Deleted mitochondrial DNA in the skeletal muscle of aged individuals
-
Katayama, M., Tanaka, M., Yamamoto, H., Ohbayashi, T., Nimura, Y., and Ozawa, T. (1991) Deleted mitochondrial DNA in the skeletal muscle of aged individuals. Biochem. Int. 25, 47-56
-
(1991)
Biochem. Int.
, vol.25
, pp. 47-56
-
-
Katayama, M.1
Tanaka, M.2
Yamamoto, H.3
Ohbayashi, T.4
Nimura, Y.5
Ozawa, T.6
|