-
1
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., Zara, F., Cañizares, J., Koutnikova, H., Bidichandani, S. I., Gellera, C., Brice, A., Trouillas, P., De Michele, G., Filla, A., De Frutos, R., Palau, F., Patel, P. I., Di Donato, S., Mandel, J. L., Cocozza, S., Koenig, M., and Pandolfo, M. (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
Zara, F.11
Cañizares, 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 Donato, S.23
Mandel, J.L.24
Cocozza, S.25
Koenig, M.26
Pandolfo, M.27
more..
-
2
-
-
25844487226
-
Diseases of unstable repeat expansion: Mechanisms and common principles
-
Gatchel, J. R., and Zoghbi, H. Y. (2005) Diseases of unstable repeat expansion: mechanisms and common principles. Nat. Rev. Genet. 6, 743-755
-
(2005)
Nat. Rev. Genet.
, vol.6
, pp. 743-755
-
-
Gatchel, J.R.1
Zoghbi, H.Y.2
-
3
-
-
77649144557
-
Repeat instability as the basis for human diseases and as a potential target for therapy
-
López Castel, A., Cleary, J. D., and Pearson, C. E. (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
-
-
López Castel, A.1
Cleary, J.D.2
Pearson, C.E.3
-
4
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J. L., Brice, A., and Koenig, M. (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N. Engl. J. Med. 335, 1169-1175
-
(1996)
N. Engl. J. Med.
, vol.335
, pp. 1169-1175
-
-
Dürr, A.1
Cossee, M.2
Agid, Y.3
Campuzano, V.4
Mignard, C.5
Penet, C.6
Mandel, J.L.7
Brice, A.8
Koenig, M.9
-
5
-
-
0030739437
-
Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
-
Cossée, M., Schmitt, M., Campuzano, V., Reutenauer, L., Moutou, C., Mandel, J. L., and Koenig, M. (1997) Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations. Proc. Natl. Acad. Sci. U.S.A. 94, 7452-7457
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 7452-7457
-
-
Cossée, M.1
Schmitt, M.2
Campuzano, V.3
Reutenauer, L.4
Moutou, C.5
Mandel, J.L.6
Koenig, M.7
-
6
-
-
0030815628
-
Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system
-
Montermini, L., Kish, S. J., Jiralerspong, S., Lamarche, J. B., and Pandolfo, M. (1997) Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system. Neurology 49, 606-610
-
(1997)
Neurology
, vol.49
, pp. 606-610
-
-
Montermini, L.1
Kish, S.J.2
Jiralerspong, S.3
Lamarche, J.B.4
Pandolfo, M.5
-
7
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani, S. I., Ashizawa, T., and Patel, P. I. (1998) The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet. 62, 111-121
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
8
-
-
0032486276
-
Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo
-
Ohshima, K., Montermini, L., Wells, R. D., and Pandolfo, M. (1998) Inhibitory effects of expanded GAA.TTC triplet repeats from intron I of the Friedreich ataxia gene on transcription and replication in vivo. J. Biol. Chem. 273, 14588-14595
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 14588-14595
-
-
Ohshima, K.1
Montermini, L.2
Wells, R.D.3
Pandolfo, M.4
-
9
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA.TTC repeats in R.R.Y triplex structures from Friedreich's ataxia
-
Sakamoto, N., Chastain, P. D., Parniewski, P., Ohshima, K., Pandolfo, M., Griffith, J. D., and Wells, R. D. (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
-
(1999)
Mol. Cell
, vol.3
, 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
-
10
-
-
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., and 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
-
(2000)
Nucleic Acids Res.
, vol.28
, pp. 2815-2822
-
-
Grabczyk, E.1
Usdin, K.2
-
11
-
-
0037464584
-
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
-
Saveliev, A., Everett, C., Sharpe, T., Webster, Z., and Festenstein, R. (2003) DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 422, 909-913
-
(2003)
Nature
, vol.422
, pp. 909-913
-
-
Saveliev, A.1
Everett, C.2
Sharpe, T.3
Webster, Z.4
Festenstein, R.5
-
12
-
-
0032708840
-
Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice
-
Manley, K., Shirley, T. L., Flaherty, L., and Messer, A. (1999) Msh2 deficiency prevents in vivo somatic instability of the CAG repeat in Huntington disease transgenic mice. Nat. Genet. 23, 471-473
-
(1999)
Nat. Genet.
, vol.23
, pp. 471-473
-
-
Manley, K.1
Shirley, T.L.2
Flaherty, L.3
Messer, A.4
-
13
-
-
0037081784
-
Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins
-
van den Broek, W. J., Nelen, M. R., Wansink, D. G., Coerwinkel, M. M., te Riele, H., Groenen, P. J., and Wieringa, B. (2002) Somatic expansion behaviour of the (CTG)n repeat in myotonic dystrophy knock-in mice is differentially affected by Msh3 and Msh6 mismatch-repair proteins. Hum Mol. Genet. 11, 191-198
-
(2002)
Hum Mol. Genet.
, vol.11
, pp. 191-198
-
-
Van Den Broek, W.J.1
Nelen, M.R.2
Wansink, D.G.3
Coerwinkel, M.M.4
Te Riele, H.5
Groenen, P.J.6
Wieringa, B.7
-
14
-
-
4444323468
-
Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: Implications for the mechanism of triplet repeat expansion
-
Gomes-Pereira, M., Fortune, M. T., Ingram, L., McAbney, J. P., and Monckton, D. G. (2004) Pms2 is a genetic enhancer of trinucleotide CAG.CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion. Hum Mol. Genet. 13, 1815-1825
-
(2004)
Hum Mol. Genet.
, vol.13
, pp. 1815-1825
-
-
Gomes-Pereira, M.1
Fortune, M.T.2
Ingram, L.3
McAbney, J.P.4
Monckton, D.G.5
-
15
-
-
33646168124
-
Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice
-
Foiry, L., Dong, L., Savouret, C., Hubert, L., te Riele, H., Junien, C., and Gourdon, G. (2006) Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice. Hum Genet 119, 520-526
-
(2006)
Hum Genet
, vol.119
, pp. 520-526
-
-
Foiry, L.1
Dong, L.2
Savouret, C.3
Hubert, L.4
Te Riele, H.5
Junien, C.6
Gourdon, G.7
-
16
-
-
42149156593
-
DNA instability in postmitotic neurons
-
Gonitel, R., Moffitt, H., Sathasivam, K., Woodman, B., Detloff, P. J., Faull, R. L., and Bates, G. P. (2008) DNA instability in postmitotic neurons. Proc. Natl. Acad. Sci. U.S.A. 105, 3467-3472
-
(2008)
Proc. Natl. Acad. Sci. U.S.A.
, vol.105
, pp. 3467-3472
-
-
Gonitel, R.1
Moffitt, H.2
Sathasivam, K.3
Woodman, B.4
Detloff, P.J.5
Faull, R.L.6
Bates, G.P.7
-
17
-
-
0030752987
-
Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases
-
Pearson, C. E., Ewel, A., Acharya, S., Fishel, R. A., and Sinden, R. R. (1997) Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases. Hum Mol. Genet. 6, 1117-1123
-
(1997)
Hum Mol. Genet.
, vol.6
, pp. 1117-1123
-
-
Pearson, C.E.1
Ewel, A.2
Acharya, S.3
Fishel, R.A.4
Sinden, R.R.5
-
18
-
-
0033574043
-
Triplet repeats form secondary structures that escape DNA repair in yeast
-
Moore, H., Greenwell, P. W., Liu, C. P., Arnheim, N., and Petes, T. D. (1999) Triplet repeats form secondary structures that escape DNA repair in yeast. Proc. Natl. Acad. Sci. U.S.A. 96, 1504-1509
-
(1999)
Proc. Natl. Acad. Sci. U.S.A.
, vol.96
, pp. 1504-1509
-
-
Moore, H.1
Greenwell, P.W.2
Liu, C.P.3
Arnheim, N.4
Petes, T.D.5
-
19
-
-
0035065524
-
Trinucleotide expansion in haploid germ cells by gap repair
-
Kovtun, I. V., and McMurray, C. T. (2001) Trinucleotide expansion in haploid germ cells by gap repair. Nat. Genet. 27, 407-411
-
(2001)
Nat. Genet.
, vol.27
, pp. 407-411
-
-
Kovtun, I.V.1
McMurray, C.T.2
-
20
-
-
25844468819
-
(CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition
-
Owen, B. A., Yang, Z., Lai, M., Gajek, M., Badger, J. D., 2nd, Hayes, J. J., Edelmann, W., Kucherlapati, R., Wilson, T. M., and McMurray, C. T. (2005) (CAG)(n)-hairpin DNA binds to Msh2-Msh3 and changes properties of mismatch recognition. Nat. Struct. Mol. Biol. 12, 663-670
-
(2005)
Nat. Struct. Mol. Biol.
, vol.12
, pp. 663-670
-
-
Owen, B.A.1
Yang, Z.2
Lai, M.3
Gajek, M.4
Badger II, J.D.5
Hayes, J.J.6
Edelmann, W.7
Kucherlapati, R.8
Wilson, T.M.9
McMurray, C.T.10
-
21
-
-
0028673197
-
Human mismatch repair genes and their association with hereditary non-polyposis colon cancer
-
Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Rao, M. R., Morrison, P., Wirth, L., Finan, P. J., Burn, J., Chapman, P., et al. (1994) Human mismatch repair genes and their association with hereditary non-polyposis colon cancer. Cold Spring Harb. Symp. Quant. Biol. 59, 331-338
-
(1994)
Cold Spring Harb. Symp. Quant. Biol.
, vol.59
, pp. 331-338
-
-
Kolodner, R.D.1
Hall, N.R.2
Lipford, J.3
Kane, M.F.4
Rao, M.R.5
Morrison, P.6
Wirth, L.7
Finan, P.J.8
Burn, J.9
Chapman, P.10
-
22
-
-
33646187811
-
The multifaceted mismatch-repair system
-
Jiricny, J. (2006) The multifaceted mismatch-repair system. Nat. Rev. Mol. Cell Biol. 7, 335-346
-
(2006)
Nat. Rev. Mol. Cell Biol.
, vol.7
, pp. 335-346
-
-
Jiricny, J.1
-
23
-
-
0029659046
-
hMutSβ, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA
-
Palombo, F., Iaccarino, I., Nakajima, E., Ikejima, M., Shimada, T., and Jiricny, J. (1996) hMutSβ, a heterodimer of hMSH2 and hMSH3, binds to insertion/deletion loops in DNA. Curr. Biol. 6, 1181-1184
-
(1996)
Curr. Biol.
, vol.6
, pp. 1181-1184
-
-
Palombo, F.1
Iaccarino, I.2
Nakajima, E.3
Ikejima, M.4
Shimada, T.5
Jiricny, J.6
-
24
-
-
0032584384
-
Isolation of MutSβ from human cells and comparison of the mismatch repair specificities of MutSβ and MutSα
-
Genschel, J., Littman, S. J., Drummond, J. T., and Modrich, P. (1998) Isolation of MutSβ from human cells and comparison of the mismatch repair specificities of MutSβ and MutSα. J. Biol. Chem. 273, 19895-19901
-
(1998)
J. Biol. Chem.
, vol.273
, pp. 19895-19901
-
-
Genschel, J.1
Littman, S.J.2
Drummond, J.T.3
Modrich, P.4
-
25
-
-
55549095970
-
Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair
-
Kim, H. M., Narayanan, V., Mieczkowski, P. A., Petes, T. D., Krasilnikova, M. M., Mirkin, S. M., and Lobachev, K. S. (2008) Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair. EMBO J. 27, 2896-2906
-
(2008)
EMBO J.
, vol.27
, pp. 2896-2906
-
-
Kim, H.M.1
Narayanan, V.2
Mieczkowski, P.A.3
Petes, T.D.4
Krasilnikova, M.M.5
Mirkin, S.M.6
Lobachev, K.S.7
-
26
-
-
78049512763
-
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA·TTC triplet repeat instability
-
Ku, S., Soragni, E., Campau, E., Thomas, E. A., Altun, G., Laurent, L. C., Loring, J. F., Napierala, M., and Gottesfeld, J. M. (2010) Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA·TTC triplet repeat instability. Cell Stem Cell 7, 631-637
-
(2010)
Cell Stem Cell
, vol.7
, pp. 631-637
-
-
Ku, S.1
Soragni, E.2
Campau, E.3
Thomas, E.A.4
Altun, G.5
Laurent, L.C.6
Loring, J.F.7
Napierala, M.8
Gottesfeld, J.M.9
-
27
-
-
84858159939
-
The mismatch repair system protects against intergenerational GAA repeat instability in a Friedrich ataxia mouse model
-
Ezzatizadeh, V., Pinto, R. M., Sandi, C., Sandi, M., Al-Mahdawi, S., Te Riele, H., and Pook, M. A. (2012) The mismatch repair system protects against intergenerational GAA repeat instability in a Friedrich 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
Te Riele, H.6
Pook, M.A.7
-
28
-
-
34249988198
-
Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life
-
De Biase, I., Rasmussen, A., Monticelli, A., Al-Mahdawi, S., Pook, M., Cocozza, S., and Bidichandani, S. I. (2007) Somatic instability of the expanded GAA triplet-repeat sequence in Friedreich ataxia progresses throughout life. Genomics 90, 1-5
-
(2007)
Genomics
, vol.90
, 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
-
29
-
-
33846815260
-
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients
-
De Biase, I., Rasmussen, A., Endres, D., Al-Mahdawi, S., Monticelli, A., Cocozza, S., Pook, M., and Bidichandani, S. I. (2007) Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol. 61, 55-60
-
(2007)
Ann Neurol.
, vol.61
, 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
-
30
-
-
26944462396
-
Mechanistic features of CAG*CTG repeat contractions in cultured cells revealed by a novel genetic assay
-
Pelletier, R., Farrell, B. T., Miret, J. J., and Lahue, R. S. (2005) Mechanistic features of CAG*CTG repeat contractions in cultured cells revealed by a novel genetic assay. Nucleic Acids Res. 33, 5667-5676
-
(2005)
Nucleic Acids Res.
, vol.33
, pp. 5667-5676
-
-
Pelletier, R.1
Farrell, B.T.2
Miret, J.J.3
Lahue, R.S.4
-
31
-
-
32244438870
-
Transcription promotes contraction of CAG repeat tracts in human cells
-
Lin, Y., Dion, V., and Wilson, J. H. (2006) Transcription promotes contraction of CAG repeat tracts in human cells. Nat. Struct. Mol. Biol. 13, 179-180
-
(2006)
Nat. Struct. Mol. Biol.
, vol.13
, pp. 179-180
-
-
Lin, Y.1
Dion, V.2
Wilson, J.H.3
-
32
-
-
73449084162
-
Progressive GAA·TTC repeat expansion in human cell lines
-
Ditch, S., Sammarco, M. C., Banerjee, A., and Grabczyk, E. (2009) Progressive GAA·TTC repeat expansion in human cell lines. PLoS Genet. 5, e1000704
-
(2009)
PLoS Genet.
, vol.5
-
-
Ditch, S.1
Sammarco, M.C.2
Banerjee, A.3
Grabczyk, E.4
-
33
-
-
70349575790
-
Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen
-
Calmels, N., Seznec, H., Villa, P., Reutenauer, L., Hibert, M., Haiech, J., Rustin, P., Koenig, M., and Puccio, H. (2009) Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen. BMC Neurol. 9, 46
-
(2009)
BMC Neurol.
, vol.9
, pp. 46
-
-
Calmels, N.1
Seznec, H.2
Villa, P.3
Reutenauer, L.4
Hibert, M.5
Haiech, J.6
Rustin, P.7
Koenig, M.8
Puccio, H.9
-
34
-
-
0033080760
-
Generation of microgram quantities of trinucleotide repeat tracts of defined length, interspersion pattern, and orientation
-
Grabczyk, E., and Usdin, K. (1999) Generation of microgram quantities of trinucleotide repeat tracts of defined length, interspersion pattern, and orientation. Anal. Biochem. 267, 241-243
-
(1999)
Anal. Biochem.
, vol.267
, pp. 241-243
-
-
Grabczyk, E.1
Usdin, K.2
-
35
-
-
3242877996
-
Sfold web server for statistical folding and rational design of nucleic acids
-
Ding, Y., Chan, C. Y., and Lawrence, C. E. (2004) Sfold web server for statistical folding and rational design of nucleic acids. Nucleic Acids Res. 32, W135-141
-
(2004)
Nucleic Acids Res.
, vol.32
-
-
Ding, Y.1
Chan, C.Y.2
Lawrence, C.E.3
-
36
-
-
0033759915
-
Development of multigene and regulated lentivirus vectors
-
Reiser, J., Lai, Z., Zhang, X. Y., and Brady, R. O. (2000) Development of multigene and regulated lentivirus vectors. J. Virol. 74, 10589-10599
-
(2000)
J. Virol.
, vol.74
, pp. 10589-10599
-
-
Reiser, J.1
Lai, Z.2
Zhang, X.Y.3
Brady, R.O.4
-
37
-
-
0141448839
-
Small- To large-scale production of lentivirus vectors
-
Marino, M. P., Luce, M. J., and Reiser, J. (2003) Small- to large-scale production of lentivirus vectors. Methods Mol. Biol. 229, 43-55
-
(2003)
Methods Mol. Biol.
, vol.229
, pp. 43-55
-
-
Marino, M.P.1
Luce, M.J.2
Reiser, J.3
-
38
-
-
0036462346
-
hMutSα forms an ATP-dependent complex with hMutLα and hMutLβ on DNA
-
Plotz, G., Raedle, J., Brieger, A., Trojan, J., and Zeuzem, S. (2002) hMutSα forms an ATP-dependent complex with hMutLα and hMutLβ on DNA. Nucleic Acids Res. 30, 711-718
-
(2002)
Nucleic Acids Res.
, vol.30
, pp. 711-718
-
-
Plotz, G.1
Raedle, J.2
Brieger, A.3
Trojan, J.4
Zeuzem, S.5
-
39
-
-
77955439716
-
Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSβ, but clustered slip-outs are poorly repaired
-
Panigrahi, G. B., Slean, M. M., Simard, J. P., Gileadi, O., and Pearson, C. E. (2010) Isolated short CTG/CAG DNA slip-outs are repaired efficiently by hMutSβ, but clustered slip-outs are poorly repaired. Proc. Natl. Acad. Sci. U.S.A. 107, 12593-12598
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 12593-12598
-
-
Panigrahi, G.B.1
Slean, M.M.2
Simard, J.P.3
Gileadi, O.4
Pearson, C.E.5
-
40
-
-
0034674784
-
Steady-state regulation of the human DNA mismatch repair system
-
Chang, D. K., Ricciardiello, L., Goel, A., Chang, C. L., and Boland, C. R. (2000) Steady-state regulation of the human DNA mismatch repair system. J. Biol. Chem. 275, 18424-18431
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 18424-18431
-
-
Chang, D.K.1
Ricciardiello, L.2
Goel, A.3
Chang, C.L.4
Boland, C.R.5
-
41
-
-
67149083322
-
MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice
-
Tomé, S., Holt, I., Edelmann, W., Morris, G. E., Munnich, A., Pearson, C. E., and Gourdon, G. (2009) MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice. PLoS Genet 5, e1000482
-
(2009)
PLoS Genet
, vol.5
-
-
Tomé, S.1
Holt, I.2
Edelmann, W.3
Morris, G.E.4
Munnich, A.5
Pearson, C.E.6
Gourdon, G.7
-
42
-
-
0030885951
-
DHFR/MSH3 amplification in methotrexate-resistant cells alters the hMutSα/hMutSβ ratio and reduces the efficiency of base-base mismatch repair
-
Drummond, J. T., Genschel, J., Wolf, E., and Modrich, P. (1997) DHFR/MSH3 amplification in methotrexate-resistant cells alters the hMutSα/ hMutSβ ratio and reduces the efficiency of base-base mismatch repair. Proc. Natl. Acad. Sci. U.S.A. 94, 10144-10149
-
(1997)
Proc. Natl. Acad. Sci. U.S.A.
, vol.94
, pp. 10144-10149
-
-
Drummond, J.T.1
Genschel, J.2
Wolf, E.3
Modrich, P.4
-
43
-
-
0042121256
-
Mfold web server for nucleic acid folding and hybridization prediction
-
Zuker, M. (2003) Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res. 31, 3406-3415
-
(2003)
Nucleic Acids Res.
, vol.31
, pp. 3406-3415
-
-
Zuker, M.1
-
44
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
Al-Mahdawi, S., Pinto, R. M., Ruddle, P., Carroll, C., Webster, Z., and Pook, M. (2004) GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics 84, 301-310
-
(2004)
Genomics
, vol.84
, pp. 301-310
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ruddle, P.3
Carroll, C.4
Webster, Z.5
Pook, M.6
-
45
-
-
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
-
Clark, R. M., De Biase, I., Malykhina, A. P., Al-Mahdawi, S., Pook, M., and Bidichandani, S. I. (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
-
(2007)
Hum. Genet.
, vol.120
, 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
-
46
-
-
0033168064
-
Apoptosis induced by overexpression of hMSH2 or hMLH1
-
Zhang, H., Richards, B., Wilson, T., Lloyd, M., Cranston, A., Thorburn, A., Fishel, R., and Meuth, M. (1999) Apoptosis induced by overexpression of hMSH2 or hMLH1. Cancer Res. 59, 3021-3027
-
(1999)
Cancer Res.
, vol.59
, pp. 3021-3027
-
-
Zhang, H.1
Richards, B.2
Wilson, T.3
Lloyd, M.4
Cranston, A.5
Thorburn, A.6
Fishel, R.7
Meuth, M.8
-
47
-
-
0037226473
-
The mismatch repair system is required for S-phase checkpoint activation
-
Brown, K. D., Rathi, A., Kamath, R., Beardsley, D. I., Zhan, Q., Mannino, J. L., and Baskaran, R. (2003) The mismatch repair system is required for S-phase checkpoint activation. Nat. Genet. 33, 80-84
-
(2003)
Nat. Genet.
, vol.33
, pp. 80-84
-
-
Brown, K.D.1
Rathi, A.2
Kamath, R.3
Beardsley, D.I.4
Zhan, Q.5
Mannino, J.L.6
Baskaran, R.7
-
48
-
-
79953186673
-
hMSH2 recruits ATR to DNA damage sites for activation during DNA damage-induced apoptosis
-
Pabla, N., Ma, Z., McIlhatton, M. A., Fishel, R., and Dong, Z. (2011) hMSH2 recruits ATR to DNA damage sites for activation during DNA damage-induced apoptosis. J. Biol. Chem. 286, 10411-10418
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 10411-10418
-
-
Pabla, N.1
Ma, Z.2
McIlhatton, M.A.3
Fishel, R.4
Dong, Z.5
-
49
-
-
0030465237
-
hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6
-
Acharya, S., Wilson, T., Gradia, S., Kane, M. F., Guerrette, S., Marsischky, G. T., Kolodner, R., and Fishel, R. (1996) hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc. Natl. Acad. Sci. U.S.A. 93, 13629-13634
-
(1996)
Proc. Natl. Acad. Sci. U.S.A.
, vol.93
, pp. 13629-13634
-
-
Acharya, S.1
Wilson, T.2
Gradia, S.3
Kane, M.F.4
Guerrette, S.5
Marsischky, G.T.6
Kolodner, R.7
Fishel, R.8
-
50
-
-
78651099242
-
Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats
-
Nakamori, M., Pearson, C. E., and Thornton, C. A. (2011) Bidirectional transcription stimulates expansion and contraction of expanded (CTG)*(CAG) repeats. Hum Mol. Genet. 20, 580-588
-
(2011)
Hum Mol. Genet.
, vol.20
, pp. 580-588
-
-
Nakamori, M.1
Pearson, C.E.2
Thornton, C.A.3
-
51
-
-
79952814526
-
Friedreich's ataxia: Pathology, pathogenesis, and molecular genetics
-
Koeppen, A. H. (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
-
52
-
-
57449091694
-
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes
-
Dragileva, E., Hendricks, A., Teed, A., Gillis, T., Lopez, E. T., Friedberg, E. C., Kucherlapati, R., Edelmann, W., Lunetta, K. L., MacDonald, M. E., and Wheeler, V. C. (2009) Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes. Neurobiol. Dis. 33, 37-47
-
(2009)
Neurobiol. Dis.
, vol.33
, pp. 37-47
-
-
Dragileva, E.1
Hendricks, A.2
Teed, A.3
Gillis, T.4
Lopez, E.T.5
Friedberg, E.C.6
Kucherlapati, R.7
Edelmann, W.8
Lunetta, K.L.9
MacDonald, M.E.10
Wheeler, V.C.11
-
53
-
-
0036618178
-
Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells
-
Shaw, G., Morse, S., Ararat, M., and Graham, F. L. (2002) Preferential transformation of human neuronal cells by human adenoviruses and the origin of HEK 293 cells. FASEB J. 16, 869-871
-
(2002)
FASEB J.
, vol.16
, pp. 869-871
-
-
Shaw, G.1
Morse, S.2
Ararat, M.3
Graham, F.L.4
-
54
-
-
0017710978
-
Characteristics of a human cell line transformed by DNA from human adenovirus type 5
-
Graham, F. L., Smiley, J., Russell, W. C., and Nairn, R. (1977) Characteristics of a human cell line transformed by DNA from human adenovirus type 5. J. Gen. Virol. 36, 59-74
-
(1977)
J. Gen. Virol.
, vol.36
, pp. 59-74
-
-
Graham, F.L.1
Smiley, J.2
Russell, W.C.3
Nairn, R.4
-
55
-
-
0029950726
-
Cloning, characterization, and properties of seven triplet repeat DNA sequences
-
Ohshima, K., Kang, S., Larson, J. E., and Wells, R. D. (1996) Cloning, characterization, and properties of seven triplet repeat DNA sequences. J. Biol. Chem. 271, 16773-16783
-
(1996)
J. Biol. Chem.
, vol.271
, pp. 16773-16783
-
-
Ohshima, K.1
Kang, S.2
Larson, J.E.3
Wells, R.D.4
-
56
-
-
34548775695
-
A persistent RNA·DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro
-
Grabczyk, E., Mancuso, M., and Sammarco, M. C. (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
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 5351-5359
-
-
Grabczyk, E.1
Mancuso, M.2
Sammarco, M.C.3
-
57
-
-
0028889383
-
The purine-rich trinucleotide repeat sequences d(CAG)15 and d(GAC)15 form hairpins
-
Yu, A., Dill, J., and Mitas, M. (1995) The purine-rich trinucleotide repeat sequences d(CAG)15 and d(GAC)15 form hairpins. Nucleic Acids Res. 23, 4055-4057
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 4055-4057
-
-
Yu, A.1
Dill, J.2
Mitas, M.3
-
58
-
-
0028864764
-
DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes
-
Smith, G. K., Jie, J., Fox, G. E., and Gao, X. (1995)DNA CTG triplet repeats involved in dynamic mutations of neurologically related gene sequences form stable duplexes. Nucleic Acids Res. 23, 4303-4311
-
(1995)
Nucleic Acids Res.
, vol.23
, pp. 4303-4311
-
-
Smith, G.K.1
Jie, J.2
Fox, G.E.3
Gao, X.4
-
59
-
-
0029053371
-
Trinucleotide repeats that expand in human disease form hairpin structures in vitro
-
Gacy, A. M., Goellner, G., Juranić, N., Macura, S., and McMurray, C. T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81, 533-540
-
(1995)
Cell
, vol.81
, pp. 533-540
-
-
Gacy, A.M.1
Goellner, G.2
Juranić, N.3
Macura, S.4
McMurray, C.T.5
-
60
-
-
0032498304
-
Evidence for two preferred hairpin folding patterns in d(CGG).d(CCG) repeat tracts in vivo
-
Darlow, J. M., and Leach, D. R. (1998) Evidence for two preferred hairpin folding patterns in d(CGG).d(CCG) repeat tracts in vivo. J. Mol. Biol. 275, 17-23
-
(1998)
J. Mol. Biol.
, vol.275
, pp. 17-23
-
-
Darlow, J.M.1
Leach, D.R.2
-
61
-
-
76249098186
-
R loops stimulate genetic instability of CTG.CAG repeats
-
Lin, Y., Dent, S. Y., Wilson, J. H., Wells, R. D., and Napierala, M. (2010) R loops stimulate genetic instability of CTG.CAG repeats. Proc. Natl. Acad. Sci. U.S.A. 107, 692-697
-
(2010)
Proc. Natl. Acad. Sci. U.S.A.
, vol.107
, pp. 692-697
-
-
Lin, Y.1
Dent, S.Y.2
Wilson, J.H.3
Wells, R.D.4
Napierala, M.5
-
62
-
-
78651061861
-
Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats
-
Reddy, K., Tam, M., Bowater, R. P., Barber, M., Tomlinson, M., Nichol Edamura, K., Wang, Y. H., and Pearson, C. E. (2011) Determinants of R-loop formation at convergent bidirectionally transcribed trinucleotide repeats. Nucleic Acids Res. 39, 1749-1762
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 1749-1762
-
-
Reddy, K.1
Tam, M.2
Bowater, R.P.3
Barber, M.4
Tomlinson, M.5
Nichol Edamura, K.6
Wang, Y.H.7
Pearson, C.E.8
-
63
-
-
0029883805
-
Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci
-
Pearson, C. E., and Sinden, R. R. (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35, 5041-5053
-
(1996)
Biochemistry
, vol.35
, pp. 5041-5053
-
-
Pearson, C.E.1
Sinden, R.R.2
-
64
-
-
0024423767
-
DNA tertiary structures formed in vitro by misaligned hybridization of multiple tandem repeat sequences
-
Coggins, L. W., and O'Prey, M. (1989) DNA tertiary structures formed in vitro by misaligned hybridization of multiple tandem repeat sequences. Nucleic Acids Res. 17, 7417-7426
-
(1989)
Nucleic Acids Res.
, vol.17
, pp. 7417-7426
-
-
Coggins, L.W.1
O'Prey, M.2
-
65
-
-
77953441990
-
Functional studies and homology modeling of Msh2-Msh3 predict that mispair recognition involves DNA bending and strand separation
-
Dowen, J. M., Putnam, C. D., and Kolodner, R. D. (2010) Functional studies and homology modeling of Msh2-Msh3 predict that mispair recognition involves DNA bending and strand separation. Mol. Cell. Biol. 30, 3321-3328
-
(2010)
Mol. Cell. Biol.
, vol.30
, pp. 3321-3328
-
-
Dowen, J.M.1
Putnam, C.D.2
Kolodner, R.D.3
-
66
-
-
84855463183
-
Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops
-
Gupta, S., Gellert, M., and Yang, W. (2012) Mechanism of mismatch recognition revealed by human MutSβ bound to unpaired DNA loops. Nat. Struct. Mol. Biol. 19, 72-78
-
(2012)
Nat. Struct. Mol. Biol.
, vol.19
, pp. 72-78
-
-
Gupta, S.1
Gellert, M.2
Yang, W.3
-
67
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman, D., Jenssen, K., Burnett, R., Soragni, E., Perlman, S. L., and Gottesfeld, J. M. (2006) Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat. Chem. Biol. 2, 551-558
-
(2006)
Nat. Chem. Biol.
, vol.2
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
Soragni, E.4
Perlman, S.L.5
Gottesfeld, J.M.6
-
68
-
-
77952530173
-
Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model
-
Rai, M., Soragni, E., Chou, C. J., Barnes, G., Jones, S., Rusche, J. R., Gottesfeld, J. M., and Pandolfo, M. (2010) Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model. PLoS One 5, e8825
-
(2010)
PLoS One
, vol.5
-
-
Rai, M.1
Soragni, E.2
Chou, C.J.3
Barnes, G.4
Jones, S.5
Rusche, J.R.6
Gottesfeld, J.M.7
Pandolfo, M.8
-
69
-
-
80054735825
-
Evaluation of histone deacetylase inhibitors as therapeutics for neurodegenerative diseases
-
Soragni, E., Xu, C., Cooper, A., Plasterer, H. L., Rusche, J. R., and Gottesfeld, J. M. (2011) Evaluation of histone deacetylase inhibitors as therapeutics for neurodegenerative diseases. Methods Mol. Biol. 793, 495-508
-
(2011)
Methods Mol. Biol.
, vol.793
, pp. 495-508
-
-
Soragni, E.1
Xu, C.2
Cooper, A.3
Plasterer, H.L.4
Rusche, J.R.5
Gottesfeld, J.M.6
-
70
-
-
84857485218
-
Histone deacetylase complexes promote trinucleotide repeat expansions
-
Debacker, K., Frizzell, A., Gleeson, O., Kirkham-McCarthy, L., Mertz, T., and Lahue, R. S. (2012) Histone deacetylase complexes promote trinucleotide repeat expansions. PLoS Biol. 10, e1001257
-
(2012)
PLoS Biol.
, vol.10
-
-
Debacker, K.1
Frizzell, A.2
Gleeson, O.3
Kirkham-McCarthy, L.4
Mertz, T.5
Lahue, R.S.6
-
71
-
-
0027145633
-
Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer
-
Leach, F. S., Nicolaides, N. C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomäki, P., Sistonen, P., Aaltonen, L. A., and Nyström-Lahti, M. (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75, 1215-1225
-
(1993)
Cell
, vol.75
, pp. 1215-1225
-
-
Leach, F.S.1
Nicolaides, N.C.2
Papadopoulos, N.3
Liu, B.4
Jen, J.5
Parsons, R.6
Peltomäki, P.7
Sistonen, P.8
Aaltonen, L.A.9
Nyström-Lahti, M.10
-
72
-
-
0027742295
-
The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer
-
Fishel, R., Lescoe, M. K., Rao, M. R., Copeland, N. G., Jenkins, N. A., Garber, J., Kane, M., and Kolodner, R. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75, 1027-1038
-
(1993)
Cell
, vol.75
, pp. 1027-1038
-
-
Fishel, R.1
Lescoe, M.K.2
Rao, M.R.3
Copeland, N.G.4
Jenkins, N.A.5
Garber, J.6
Kane, M.7
Kolodner, R.8
|