-
1
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Molto MD, Pianese L, Cossee M, et al. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271: 1423-1427. (Pubitemid 26089479)
-
(1996)
Science
, vol.271
, Issue.5254
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molto, M.D.3
Pianese, L.4
Cossee, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Canizares, J.12
Koutnikova, H.13
Bidichandani, S.I.14
Gellera, C.15
Brice, A.16
Trouillas, P.17
De Michele, G.18
Filla, A.19
De Frutos, R.20
Palau, F.21
Patel, P.I.22
Di, D.S.23
Mandel, J.-L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
2
-
-
0037464584
-
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
-
DOI 10.1038/nature01596
-
Saveliev A, Everett C, Sharpe T, Webster Z, Festenstein R (2003) DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 422: 909-913. (Pubitemid 36520045)
-
(2003)
Nature
, vol.422
, Issue.6934
, pp. 909-913
-
-
Savellev, A.1
Everett, C.2
Sharpe, T.3
Webster, Z.4
Festenstein, R.5
-
3
-
-
44949208513
-
DNA triplexes and Friedreich ataxia
-
Wells RD (2008) DNA triplexes and Friedreich ataxia. FASEB J 22: 1625-1634.
-
(2008)
FASEB J
, vol.22
, pp. 1625-1634
-
-
Wells, R.D.1
-
4
-
-
34548775695
-
A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro
-
DOI 10.1093/nar/gkm589
-
Grabczyk E, Mancuso M, Sammarco MC (2007) A persistent RNA.DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro. Nucleic Acids Res 35: 5351-5359. (Pubitemid 47423909)
-
(2007)
Nucleic Acids Research
, vol.35
, Issue.16
, pp. 5351-5359
-
-
Grabczyk, E.1
Mancuso, M.2
Sammarco, M.C.3
-
5
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
DOI 10.1093/hmg/6.11.1771
-
Campuzano V, Montermini L, Lutz Y, Cova L, Hindelang C, et al. (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 6: 1771-1780. (Pubitemid 27460350)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.11
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
Cova, L.4
Hindelang, C.5
Jiralerspong, S.6
Trottier, Y.7
Kish, S.J.8
Faucheux, B.9
Trouillas, P.10
Authier, F.J.11
Durr, A.12
Mandel, J.-L.13
Vescovi, A.14
Pandolfo, M.15
Koenig, M.16
-
6
-
-
0033957174
-
Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia
-
Bradley JL, Blake JC, Chamberlain S, Thomas PK, Cooper JM, et al. (2000) Clinical, biochemical and molecular genetic correlations in Friedreich's ataxia. Hum Mol Genet 9: 275-282. (Pubitemid 30052751)
-
(2000)
Human Molecular Genetics
, vol.9
, Issue.2
, pp. 275-282
-
-
Bradley, J.L.1
Blake, J.C.2
Chamberlain, S.3
Thomas, P.K.4
Cooper, J.M.5
Schapira, A.H.V.6
-
7
-
-
79952814526
-
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
-
Koeppen AH (2011) Friedreich's ataxia: pathology, pathogenesis, and molecular genetics. J Neurol Sci 303: 1-12.
-
(2011)
J Neurol Sci
, vol.303
, pp. 1-12
-
-
Koeppen, A.H.1
-
8
-
-
67649213875
-
Diagnosis and treatment of Friedreich ataxia: A European perspective
-
Schulz JB, Boesch S, Burk K, Durr A, Giunti P, et al. (2009) Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 5: 222-234.
-
(2009)
Nat Rev Neurol
, vol.5
, pp. 222-234
-
-
Schulz, J.B.1
Boesch, S.2
Burk, K.3
Durr, A.4
Giunti, P.5
-
9
-
-
62549093116
-
The pathogenesis of Friedreich ataxia and the structure and function of frataxin
-
Pandolfo M, Pastore A (2009) The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol 256 Suppl 1: 9-17.
-
(2009)
J Neurol
, vol.256
, Issue.SUPPL. 1
, pp. 9-17
-
-
Pandolfo, M.1
Pastore, A.2
-
10
-
-
0036940427
-
The molecular basis of Friedreich ataxia
-
Pandolfo M (2002) The molecular basis of Friedreich ataxia. Adv Exp Med Biol 516: 99-118.
-
(2002)
Adv Exp Med Biol
, vol.516
, pp. 99-118
-
-
Pandolfo, M.1
-
11
-
-
8544240144
-
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
-
DOI 10.1093/hmg/6.8.1261
-
Montermini L, Andermann E, Labuda M, Richter A, Pandolfo M, et al. (1997) The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 6: 1261-1266. (Pubitemid 27351065)
-
(1997)
Human Molecular Genetics
, vol.6
, Issue.8
, pp. 1261-1266
-
-
Montermini, L.1
Andermann, E.2
Labuda, M.3
Richter, A.4
Pandolfo, M.5
Cavalcanti, F.6
Pianese, L.7
Iodice, L.8
Farina, G.9
Monticelli, A.10
Turano, M.11
Filla, A.12
De Michele, G.13
Cocozza, S.14
-
12
-
-
33846815260
-
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients
-
DOI 10.1002/ana.21052
-
De Biase I, Rasmussen A, Endres D, Al-Mahdawi S, Monticelli A, et al. (2007) Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol 61: 55-60. (Pubitemid 46214244)
-
(2007)
Annals of Neurology
, vol.61
, Issue.1
, pp. 55-60
-
-
De Biase, I.1
Rasmussen, A.2
Endres, D.3
Al-Mahdawi, S.4
Monticelli, A.5
Cocozza, S.6
Pook, M.7
Bidichandani, S.I.8
-
13
-
-
34249988198
-
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life
-
DOI 10.1016/j.ygeno.2007.04.001, PII S0888754307000870
-
De Biase I, Rasmussen A, Monticelli A, Al-Mahdawi S, Pook M, et al. (2007) Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics 90: 1-5. (Pubitemid 46891744)
-
(2007)
Genomics
, vol.90
, Issue.1
, pp. 1-5
-
-
De Biase, I.1
Rasmussen, A.2
Monticelli, A.3
Al-Mahdawi, S.4
Pook, M.5
Cocozza, S.6
Bidichandani, S.I.7
-
14
-
-
0031739916
-
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: Pedigree studies and analysis of sperm from patients with Friedreich's ataxia
-
DOI 10.1093/hmg/7.12.1901
-
De Michele G, Cavalcanti F, Criscuolo C, Pianese L, Monticelli A, et al. (1998) Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia. Hum Mol Genet 7: 1901-1906. (Pubitemid 28499421)
-
(1998)
Human Molecular Genetics
, vol.7
, Issue.12
, pp. 1901-1906
-
-
De Michele, G.1
Cavalcanti, F.2
Criscuolo, C.3
Pianese, L.4
Monticelli, A.5
Filla, A.6
Cocozza, S.7
-
15
-
-
0031816520
-
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene
-
Delatycki MB, Paris D, Gardner RJ, Forshaw K, Nicholson GA, et al. (1998) Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA gene. J Med Genet 35: 713-716. (Pubitemid 28377191)
-
(1998)
Journal of Medical Genetics
, vol.35
, Issue.9
, pp. 713-716
-
-
Delatycki, M.B.1
Paris, D.2
Gardner, R.J.M.3
Forshaw, K.4
Nicholson, G.A.5
Nassif, N.6
Williamson, R.7
Forrest, S.M.8
-
16
-
-
0030862745
-
Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
-
Monros E, Molto MD, Martinez F, Canizares J, Blanca J, et al. (1997) Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Am J Hum Genet 61: 101-110. (Pubitemid 27323329)
-
(1997)
American Journal of Human Genetics
, vol.61
, Issue.1
, pp. 101-110
-
-
Monros, E.1
Molto, M.D.2
Martinez, F.3
Canizares, J.4
Blanca, J.5
Vilchez, J.J.6
Prieto, F.7
De Frutos, R.8
Palau, F.9
-
17
-
-
0031035455
-
The effect of parental gender on the GAA dynamic mutation in the FRDA gene [2]
-
Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, et al. (1997) The effect of parental gender on the GAA dynamic mutation in the FRDA gene. Am J Hum Genet 60: 460-463. (Pubitemid 27058419)
-
(1997)
American Journal of Human Genetics
, vol.60
, Issue.2
, pp. 460-463
-
-
Pianese, L.1
Cavalcanti, F.2
De Michele, G.3
Filla, A.4
Campanella, G.5
Calabrese, O.6
Castaldo, I.7
Monticelli, A.8
Cocozza, S.9
-
18
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
DOI 10.1016/j.ygeno.2004.04.003, PII S0888754304000904
-
Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, et al. (2004) GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 84: 301-310. (Pubitemid 38834168)
-
(2004)
Genomics
, vol.84
, Issue.2
, pp. 301-310
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ruddle, P.3
Carroll, C.4
Webster, Z.5
Pook, M.6
-
19
-
-
84883424925
-
Friedreich ataxia patient tissues exhibit increased 5- hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus
-
Al-Mahdawi S, Sandi C, Mouro Pinto R, Pook MA (2013) Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. PLoS One 8: e74956.
-
(2013)
PLoS One
, vol.8
-
-
Al-Mahdawi, S.1
Sandi, C.2
Mouro Pinto, R.3
Pook, M.A.4
-
20
-
-
84858159939
-
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model
-
Ezzatizadeh V, Pinto RM, Sandi C, Sandi M, Al-Mahdawi S, et al. (2012) The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model. Neurobiol Dis 46: 165-171.
-
(2012)
Neurobiol Dis
, vol.46
, pp. 165-171
-
-
Ezzatizadeh, V.1
Pinto, R.M.2
Sandi, C.3
Sandi, M.4
Al-Mahdawi, S.5
-
21
-
-
84863534984
-
Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model
-
Tomassini B, Arcuri G, Fortuni S, Sandi C, Ezzatizadeh V, et al. (2012) Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model. Hum Mol Genet 21: 2855-2861.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 2855-2861
-
-
Tomassini, B.1
Arcuri, G.2
Fortuni, S.3
Sandi, C.4
Ezzatizadeh, V.5
-
22
-
-
79954628287
-
Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model
-
Sandi C, Pinto RM, Al-Mahdawi S, Ezzatizadeh V, Barnes G, et al. (2011) Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol Dis 42: 496-505.
-
(2011)
Neurobiol Dis
, vol.42
, pp. 496-505
-
-
Sandi, C.1
Pinto, R.M.2
Al-Mahdawi, S.3
Ezzatizadeh, V.4
Barnes, G.5
-
23
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
DOI 10.1093/hmg/ddm346
-
Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, et al. (2008) The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 17: 735-746. (Pubitemid 351292262)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.5
, pp. 735-746
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ismail, O.3
Varshney, D.4
Lymperi, S.5
Sandi, C.6
Trabzuni, D.7
Pook, M.8
-
24
-
-
33749638768
-
GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology
-
DOI 10.1016/j.ygeno.2006.06.015, PII S0888754306001972
-
Al-Mahdawi S, Pinto RM, Varshney D, Lawrence L, Lowrie MB, et al. (2006) GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics 88: 580-590. (Pubitemid 44540244)
-
(2006)
Genomics
, vol.88
, Issue.5
, pp. 580-590
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Varshney, D.3
Lawrence, L.4
Lowrie, M.B.5
Hughes, S.6
Webster, Z.7
Blake, J.8
Cooper, J.M.9
King, R.10
Pook, M.A.11
-
25
-
-
33845652267
-
The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
-
DOI 10.1007/s00439-006-0249-3
-
Clark RM, De Biase I, Malykhina AP, Al-Mahdawi S, Pook M, et al. (2007) The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet 120: 633-640. (Pubitemid 44942847)
-
(2007)
Human Genetics
, vol.120
, Issue.5
, pp. 633-640
-
-
Clark, R.M.1
De Biase, I.2
Malykhina, A.P.3
Al-Mahdawi, S.4
Pook, M.5
Bidichandani, S.I.6
-
26
-
-
77649144557
-
Repeat instability as the basis for human diseases and as a potential target for therapy
-
Lopez Castel A, Cleary JD, Pearson CE (2010) Repeat instability as the basis for human diseases and as a potential target for therapy. Nat Rev Mol Cell Biol 11: 165-170.
-
(2010)
Nat Rev Mol Cell Biol
, vol.11
, pp. 165-170
-
-
Lopez Castel, A.1
Cleary, J.D.2
Pearson, C.E.3
-
27
-
-
84867417215
-
Pms2 suppresses large expansions of the (GAA.TTC)n sequence in neuronal tissues
-
Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, et al. (2012) Pms2 suppresses large expansions of the (GAA.TTC)n sequence in neuronal tissues. PLoS One 7: e47085.
-
(2012)
PLoS One
, vol.7
-
-
Bourn, R.L.1
De Biase, I.2
Pinto, R.M.3
Sandi, C.4
Al-Mahdawi, S.5
-
28
-
-
38049125557
-
Mechanisms and functions of DNA mismatch repair
-
Li GM (2008) Mechanisms and functions of DNA mismatch repair. Cell Res 18: 85-98.
-
(2008)
Cell Res
, vol.18
, pp. 85-98
-
-
Li, G.M.1
-
29
-
-
6044244954
-
Human Mutl homolog (MLH1) function in DNA mismatch repair: A prospective screen for missense mutations in the ATPase domain
-
DOI 10.1093/nar/gkh855
-
Ellison AR, Lofing J, Bitter GA (2004) Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain. Nucleic Acids Res 32: 5321-5338. (Pubitemid 39545650)
-
(2004)
Nucleic Acids Research
, vol.32
, Issue.18
, pp. 5321-5338
-
-
Ellison, A.R.1
Lofing, J.2
Bitter, G.A.3
-
30
-
-
84887286407
-
Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches
-
Pinto RM, Dragileva E, Kirby A, Lloret A, Lopez E, et al. (2013) Mismatch Repair Genes Mlh1 and Mlh3 Modify CAG Instability in Huntington's Disease Mice: Genome-Wide and Candidate Approaches. PLoS Genet 9: e1003930.
-
(2013)
PLoS Genet
, vol.9
-
-
Pinto, R.M.1
Dragileva, E.2
Kirby, A.3
Lloret, A.4
Lopez, E.5
-
31
-
-
15844367099
-
Meiotic pachytene arrest in MLH1-deficient mice
-
DOI 10.1016/S0092-8674(00)81312-4
-
Edelmann W, Cohen PE, Kane M, Lau K, Morrow B, et al. (1996) Meiotic pachytene arrest in MLH1-deficient mice. Cell 85: 1125-1134. (Pubitemid 26231177)
-
(1996)
Cell
, vol.85
, Issue.7
, pp. 1125-1134
-
-
Edelmann, W.1
Cohen, P.E.2
Kane, M.3
Lau, K.4
Morrow, B.5
Bennett, S.6
Umar, A.7
Kunkel, T.8
Cattoretti, G.9
Chaganti, R.10
Pollard, J.W.11
Kolodner, R.D.12
Kucherlapati, R.13
-
32
-
-
0029099989
-
Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis
-
Baker SM, Bronner CE, Zhang L, Plug AW, Robatzek M, et al. (1995) Male mice defective in the DNA mismatch repair gene PMS2 exhibit abnormal chromosome synapsis in meiosis. Cell 82: 309-319.
-
(1995)
Cell
, vol.82
, pp. 309-319
-
-
Baker, S.M.1
Bronner, C.E.2
Zhang, L.3
Plug, A.W.4
Robatzek, M.5
-
33
-
-
0030158341
-
NCM460, a normal human colon mucosal epithelial cell line
-
Moyer MP, Manzano LA, Merriman RL, Stauffer JS, Tanzer LR (1996) NCM460, a normal human colon mucosal epithelial cell line. In Vitro Cell Dev Biol Anim 32: 315-317.
-
(1996)
In Vitro Cell Dev Biol Anim
, vol.32
, pp. 315-317
-
-
Moyer, M.P.1
Manzano, L.A.2
Merriman, R.L.3
Stauffer, J.S.4
Tanzer, L.R.5
-
34
-
-
2642706705
-
2-M cell cycle checkpoint arrest following ionizing radiation
-
Davis TW, Wilson-Van Patten C, Meyers M, Kunugi KA, Cuthill S, et al. (1998) Defective expression of the DNA mismatch repair protein, MLH1, alters G2-M cell cycle checkpoint arrest following ionizing radiation. Cancer Res 58: 767-778. (Pubitemid 28099490)
-
(1998)
Cancer Research
, vol.58
, Issue.4
, pp. 767-778
-
-
Davis, T.W.1
Patten, C.W.-V.2
Meyers, M.3
Kunugi, K.A.4
Cuthill, S.5
Reznikoff, C.6
Garces, C.7
Boland, C.R.8
Kinsella, T.J.9
Fishel, R.10
Boothman, D.A.11
-
35
-
-
64149097786
-
The MIQE guidelines: Minimum information for publication of quantitative real-time PCR experiments
-
Bustin SA, Benes V, Garson JA, Hellemans J, Huggett J, et al. (2009) The MIQE guidelines: minimum information for publication of quantitative real-time PCR experiments. Clin Chem 55: 611-622.
-
(2009)
Clin Chem
, vol.55
, pp. 611-622
-
-
Bustin, S.A.1
Benes, V.2
Garson, J.A.3
Hellemans, J.4
Huggett, J.5
-
36
-
-
3042713271
-
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
-
DOI 10.1136/jnnp.2003.028605
-
Pianese L, Turano M, Lo Casale MS, De Biase I, Giacchetti M, et al. (2004) Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers. J Neurol Neurosurg Psychiatry 75: 1061-1063. (Pubitemid 38869629)
-
(2004)
Journal of Neurology, Neurosurgery and Psychiatry
, vol.75
, Issue.7
, pp. 1061-1063
-
-
Pianese, L.1
Turano, M.2
Lo, C.M.S.3
De Biase, I.4
Giacchetti, M.5
Monticelli, A.6
Criscuolo, C.7
Filla, A.8
Cocozza, S.9
-
37
-
-
33745281285
-
Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: Correlation with clinical, genetic and functional features
-
DOI 10.1038/sj.ejhg.5201628, PII 5201628
-
Belvederesi L, Bianchi F, Loretelli C, Gagliardini D, Galizia E, et al. (2006) Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features. Eur J Hum Genet 14: 853-859. (Pubitemid 43923371)
-
(2006)
European Journal of Human Genetics
, vol.14
, Issue.7
, pp. 853-859
-
-
Belvederesi, L.1
Bianchi, F.2
Loretelli, C.3
Gagliardini, D.4
Galizia, E.5
Bracci, R.6
Rosati, S.7
Bearzi, I.8
Viel, A.9
Cellerino, R.10
Porfiri, E.11
-
38
-
-
0034674784
-
Steady-state regulation of the human DNA mismatch repair system
-
DOI 10.1074/jbc.M001140200
-
Chang DK, Ricciardiello L, Goel A, Chang CL, Boland CR (2000) Steady-state regulation of the human DNA mismatch repair system. J Biol Chem 275: 18424-18431. (Pubitemid 30414800)
-
(2000)
Journal of Biological Chemistry
, vol.275
, Issue.24
, pp. 18424-18431
-
-
Chang, D.K.1
Ricciardiello, L.2
Goel, A.3
Chang, C.L.4
Boland, C.R.5
-
39
-
-
84861740928
-
The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination
-
Chahwan R, van Oers JM, Avdievich E, Zhao C, Edelmann W, et al. (2012) The ATPase activity of MLH1 is required to orchestrate DNA double-strand breaks and end processing during class switch recombination. J Exp Med 209: 671-678.
-
(2012)
J Exp Med
, vol.209
, pp. 671-678
-
-
Chahwan, R.1
Van Oers, J.M.2
Avdievich, E.3
Zhao, C.4
Edelmann, W.5
-
40
-
-
0037131228
-
Sticky DNA, a long GAA.GAA.TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene
-
DOI 10.1074/jbc.M205209200
-
Vetcher AA, Napierala M, Iyer RR, Chastain PD, Griffith JD, et al. (2002) Sticky DNA, a long GAA.GAA.TTC triplex that is formed intramolecularly, in the sequence of intron 1 of the frataxin gene. J Biol Chem 277: 39217-39227. (Pubitemid 35190891)
-
(2002)
Journal of Biological Chemistry
, vol.277
, Issue.42
, pp. 39217-39227
-
-
Vetcher, A.A.1
Napierala, M.2
Iyer, R.R.3
Chastain, P.D.4
Griffith, J.D.5
Wells, R.D.6
-
41
-
-
84861357323
-
Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells
-
Chandok GS, Patel MP, Mirkin SM, Krasilnikova MM (2012) Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells. Nucleic Acids Res 40: 3964-3974.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 3964-3974
-
-
Chandok, G.S.1
Patel, M.P.2
Mirkin, S.M.3
Krasilnikova, M.M.4
-
42
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA . TTC repeats in R . R . Y triplex structures from Friedreich's ataxia
-
DOI 10.1016/S1097-2765(00)80474-8
-
Sakamoto N, Chastain PD, Parniewski P, Ohshima K, Pandolfo M, et al. (1999) Sticky DNA: self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia. Mol Cell 3: 465-475. (Pubitemid 29292603)
-
(1999)
Molecular Cell
, vol.3
, Issue.4
, pp. 465-475
-
-
Sakamoto, N.1
Chastain, P.D.2
Parniewski, P.3
Ohshima, K.4
Pandolfo, M.5
Griffith, J.D.6
Wells, R.D.7
-
43
-
-
80053451692
-
Genome-wide analysis of heteroduplex DNA in mismatch repair-deficient yeast cells reveals novel properties of meiotic recombination pathways
-
Martini E, Borde V, Legendre M, Audic S, Regnault B, et al. (2011) Genome-wide analysis of heteroduplex DNA in mismatch repair-deficient yeast cells reveals novel properties of meiotic recombination pathways. PLoS Genet 7: e1002305.
-
(2011)
PLoS Genet
, vol.7
-
-
Martini, E.1
Borde, V.2
Legendre, M.3
Audic, S.4
Regnault, B.5
-
44
-
-
84865490878
-
Role of mismatch repair enzymes in GAA.TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells
-
Du J, Campau E, Soragni E, Ku S, Puckett JW, et al. (2012) Role of mismatch repair enzymes in GAA.TTC triplet-repeat expansion in Friedreich ataxia induced pluripotent stem cells. J Biol Chem 287: 29861-29872.
-
(2012)
J Biol Chem
, vol.287
, pp. 29861-29872
-
-
Du, J.1
Campau, E.2
Soragni, E.3
Ku, S.4
Puckett, J.W.5
-
45
-
-
33646872909
-
DNA mismatch repair system: Classical and fresh roles
-
DOI 10.1111/j.1742-4658.2006.05190.x
-
Jun SH, Kim TG, Ban C (2006) DNA mismatch repair system. Classical and fresh roles. FEBS J 273: 1609-1619. (Pubitemid 43779815)
-
(2006)
FEBS Journal
, vol.273
, Issue.8
, pp. 1609-1619
-
-
Jun, S.-H.1
Kim, T.G.2
Ban, C.3
-
46
-
-
84895931004
-
RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility
-
Frizzell A, Nguyen JH, Petalcorin MI, Turner KD, Boulton SJ, et al. (2014) RTEL1 Inhibits Trinucleotide Repeat Expansions and Fragility. Cell Rep 6: 827-835.
-
(2014)
Cell Rep
, vol.6
, pp. 827-835
-
-
Frizzell, A.1
Nguyen, J.H.2
Petalcorin, M.I.3
Turner, K.D.4
Boulton, S.J.5
-
47
-
-
45449103427
-
DNA mismatch repair: Molecular mechanism, cancer, and ageing
-
Hsieh P, Yamane K (2008) DNA mismatch repair: molecular mechanism, cancer, and ageing. Mech Ageing Dev 129: 391-407.
-
(2008)
Mech Ageing Dev
, vol.129
, pp. 391-407
-
-
Hsieh, P.1
Yamane, K.2
-
48
-
-
0034660695
-
The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner
-
Grabczyk E, Usdin K (2000) The GAA*TTC triplet repeat expanded in Friedreich's ataxia impedes transcription elongation by T7 RNA polymerase in a length and supercoil dependent manner. Nucleic Acids Res 28: 2815-2822. (Pubitemid 30488540)
-
(2000)
Nucleic Acids Research
, vol.28
, Issue.14
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
49
-
-
79955475464
-
Unravelling the means to an end: RNA polymerase II transcription termination
-
Kuehner JN, Pearson EL, Moore C (2011) Unravelling the means to an end: RNA polymerase II transcription termination. Nat Rev Mol Cell Biol 12: 283-294.
-
(2011)
Nat Rev Mol Cell Biol
, vol.12
, pp. 283-294
-
-
Kuehner, J.N.1
Pearson, E.L.2
Moore, C.3
-
50
-
-
84901626668
-
R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome
-
Groh M, Lufino MM, Wade-Martins R, Gromak N (2014) R-loops Associated with Triplet Repeat Expansions Promote Gene Silencing in Friedreich Ataxia and Fragile X Syndrome. PLoS Genet 10: e1004318.
-
(2014)
PLoS Genet
, vol.10
-
-
Groh, M.1
Lufino, M.M.2
Wade-Martins, R.3
Gromak, N.4
-
51
-
-
84867052175
-
Nucleotide excision repair, mismatch repair, and R-loops modulate convergent transcription-induced cell death and repeat instability
-
Lin Y, Wilson JH (2012) Nucleotide excision repair, mismatch repair, and R-loops modulate convergent transcription-induced cell death and repeat instability. PLoS One 7: e46807.
-
(2012)
PLoS One
, vol.7
-
-
Lin, Y.1
Wilson, J.H.2
-
52
-
-
68749100947
-
Involvement of nucleotide excision and mismatch repair mechanisms in double strand break repair
-
Zhang Y, Rohde LH, Wu H (2009) Involvement of nucleotide excision and mismatch repair mechanisms in double strand break repair. Curr Genomics 10: 250-258.
-
(2009)
Curr Genomics
, vol.10
, pp. 250-258
-
-
Zhang, Y.1
Rohde, L.H.2
Wu, H.3
-
53
-
-
33748894494
-
The relative roles of three DNA repair pathways in preventing Caenorhabditis elegans mutation accumulation
-
DOI 10.1534/genetics.106.059840
-
Denver DR, Feinberg S, Steding C, Durbin M, Lynch M (2006) The relative roles of three DNA repair pathways in preventing Caenorhabditis elegans mutation accumulation. Genetics 174: 57-65. (Pubitemid 44427653)
-
(2006)
Genetics
, vol.174
, Issue.1
, pp. 57-65
-
-
Denver, D.R.1
Feinberg, S.2
Steding, C.3
Durbin, M.4
Lynch, M.5
-
54
-
-
39049182711
-
Involvement of mismatch repair in transcription-coupled nucleotide excision repair
-
Kobayashi K, Karran P, Oda S, Yanaga K (2005) Involvement of mismatch repair in transcription-coupled nucleotide excision repair. Hum Cell 18: 103-115.
-
(2005)
Hum Cell
, vol.18
, pp. 103-115
-
-
Kobayashi, K.1
Karran, P.2
Oda, S.3
Yanaga, K.4
-
55
-
-
0024426244
-
Induction of the Escherichia coli lactose operon selectively increases repair of its transcribed DNA strand
-
DOI 10.1038/342095a0
-
Mellon I, Hanawalt PC (1989) Induction of the Escherichia coli lactose operon selectively increases repair of its transcribed DNA strand. Nature 342: 95-98. (Pubitemid 19271125)
-
(1989)
Nature
, vol.342
, Issue.6245
, pp. 95-98
-
-
Mellon, I.1
Hanawalt, P.C.2
-
56
-
-
0029887819
-
Transcription-coupled repair deficiency and mutations in human mismatch repair genes
-
Mellon I, Rajpal DK, Koi M, Boland CR, Champe GN (1996) Transcription-coupled repair deficiency and mutations in human mismatch repair genes. Science 272: 557-560. (Pubitemid 26138201)
-
(1996)
Science
, vol.272
, Issue.5261
, pp. 557-560
-
-
Mellon, I.1
Rajpal, D.K.2
Koi, M.3
Boland, C.R.4
Champe, G.N.5
-
57
-
-
0035855651
-
MDM2 in response to ultraviolet light
-
DOI 10.1038/sj.onc.1204721
-
Michalowski J, Seavey SE, Mendrysa SM, Perry ME (2001) Defects in transcription coupled repair interfere with expression of p90(MDM2) in response to ultraviolet light. Oncogene 20: 5856-5864. (Pubitemid 32937955)
-
(2001)
Oncogene
, vol.20
, Issue.41
, pp. 5856-5864
-
-
Michalowski, J.1
Seavey, S.E.2
Mendrysa, S.M.3
Perry, M.E.4
-
58
-
-
33749247070
-
Overexpression of the DNA mismatch repair factor, PMS2, confers hypermutability and DNA damage tolerance
-
DOI 10.1016/j.canlet.2005.12.009, PII S0304383505010785
-
Gibson SL, Narayanan L, Hegan DC, Buermeyer AB, Liskay RM, et al. (2006) Overexpression of the DNA mismatch repair factor, PMS2, confers hypermutability and DNA damage tolerance. Cancer Lett 244: 195-202. (Pubitemid 44485878)
-
(2006)
Cancer Letters
, vol.244
, Issue.2
, pp. 195-202
-
-
Gibson, S.L.1
Narayanan, L.2
Hegan, D.C.3
Buermeyer, A.B.4
Liskay, R.M.5
Glazer, P.M.6
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