-
1
-
-
3042654716
-
GAA repeat instability in Friedreich ataxia YAC transgenic mice
-
S. Al-Mahdawi, R.M. Pinto, P. Ruddle, C. Carroll, Z. Webster, and M. Pook GAA repeat instability in Friedreich ataxia YAC transgenic mice Genomics 84 2004 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
-
2
-
-
39749136603
-
The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues
-
S. Al-Mahdawi, R.M. Pinto, O. Ismail, D. Varshney, S. Lymperi, C. Sandi, D. Trabzuni, and M. Pook The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues Hum. Mol. Genet. 17 2008 735 746
-
(2008)
Hum. Mol. Genet.
, vol.17
, 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
-
3
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
S.I. Bidichandani, T. Ashizawa, and P.I. Patel 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 1998 111 121
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
4
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
V. Campuzano, L. Montermini, M.D. Molt, L. Pianese, M. Cossée, F. Cavalcanti, E. Monros, F. Rodius, F. Duclos, and A. Monticelli Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion Science 271 1996 1423 1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Molt, M.D.3
Pianese, L.4
Cossée, M.5
Cavalcanti, F.6
Monros, E.7
Rodius, F.8
Duclos, F.9
Monticelli, A.10
-
5
-
-
33646162871
-
Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration
-
G. Coppola, S.H. Choi, M.M. Santos, C.J. Miranda, D. Tentler, E.M. Wexler, M. Pandolfo, and D.H. Geschwind Gene expression profiling in frataxin deficient mice: Microarray evidence for significant expression changes without detectable neurodegeneration Neurobiol. Dis. 22 2006 302 311
-
(2006)
Neurobiol. Dis.
, vol.22
, pp. 302-311
-
-
Coppola, G.1
Choi, S.H.2
Santos, M.M.3
Miranda, C.J.4
Tentler, D.5
Wexler, E.M.6
Pandolfo, M.7
Geschwind, D.H.8
-
6
-
-
70949099119
-
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription
-
I. De Biase, Y.K. Chutake, P.M. Rindler, and S.I. Bidichandani Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription PLoS ONE 4 2009 e7914
-
(2009)
PLoS ONE
, vol.4
, pp. 7914
-
-
De Biase, I.1
Chutake, Y.K.2
Rindler, P.M.3
Bidichandani, S.I.4
-
7
-
-
0038005018
-
DAVID: Database for Annotation, Visualization, and Integrated Discovery
-
G. Dennis, B.T. Sherman, D.A. Hosack, J. Yang, W. Gao, H.C. Lane, and R.A. Lempicki DAVID: Database for Annotation, Visualization, and Integrated Discovery Genome Biol. 4 2003 P3
-
(2003)
Genome Biol.
, vol.4
-
-
Dennis, G.1
Sherman, B.T.2
Hosack, D.A.3
Yang, J.4
Gao, W.5
Lane, H.C.6
Lempicki, R.A.7
-
8
-
-
67649983121
-
Instability and chromatin structure of expanded trinucleotide repeats
-
V. Dion, and J.H. Wilson Instability and chromatin structure of expanded trinucleotide repeats Trends Genet. 25 2009 288 297
-
(2009)
Trends Genet.
, vol.25
, pp. 288-297
-
-
Dion, V.1
Wilson, J.H.2
-
10
-
-
57449091694
-
Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes
-
E. Dragileva, A. Hendricks, A. Teed, T. Gillis, E.T. Lopez, E.C. Friedberg, R.S. Kucherlapati, W. Edelmann, K.L. Lunetta, M.E. MacDonald, and V.C. Wheeler Intergenerational and striatal CAG repeat instability in Huntington's disease knock-in mice involve different DNA repair genes Neurobiol. Dis. 33 2009 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.S.7
Edelmann, W.8
Lunetta, K.L.9
MacDonald, M.E.10
Wheeler, V.C.11
-
12
-
-
34748841015
-
Small molecules affecting transcription in Friedreich ataxia
-
J.M. Gottesfeld Small molecules affecting transcription in Friedreich ataxia Pharmacol. Ther. 116 2007 236 248
-
(2007)
Pharmacol. Ther.
, vol.116
, pp. 236-248
-
-
Gottesfeld, J.M.1
-
13
-
-
76749143747
-
Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: Cellular model of pathology
-
A.C. Haugen, N.A. Di Prospero, J.S. Parker, R.D. Fannin, J. Chou, J.N. Meyer, C. Halweg, J.B. Collins, A. Durr, K. Fischbeck, and B. Van Houten Altered gene expression and DNA damage in peripheral blood cells from Friedreich's ataxia patients: Cellular model of pathology PLoS Genet. 6 2010 e1000812
-
(2010)
PLoS Genet.
, vol.6
, pp. 1000812
-
-
Haugen, A.C.1
Di Prospero, N.A.2
Parker, J.S.3
Fannin, R.D.4
Chou, J.5
Meyer, J.N.6
Halweg, C.7
Collins, J.B.8
Durr, A.9
Fischbeck, K.10
Van Houten, B.11
-
14
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
D. Herman, K. Jenssen, R. Burnett, E. Soragni, S.L. Perlman, and J.M. Gottesfeld Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia Nat. Chem. Biol. 2 2006 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
-
15
-
-
61449172037
-
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
-
W. Huang da, B.T. Sherman, and R.A. Lempicki Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources Nat. Protoc. 4 2009 44 57
-
(2009)
Nat. Protoc.
, vol.4
, pp. 44-57
-
-
Huang Da, W.1
Sherman, B.T.2
Lempicki, R.A.3
-
16
-
-
0033525081
-
Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication
-
R.R. Iyer, and R.D. Wells Expansion and deletion of triplet repeat sequences in Escherichia coli occur on the leading strand of DNA replication J. Biol. Chem. 274 1999 3865 3877
-
(1999)
J. Biol. Chem.
, vol.274
, pp. 3865-3877
-
-
Iyer, R.R.1
Wells, R.D.2
-
17
-
-
55549095970
-
Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair
-
H.M. Kim, V. Narayanan, P.A. Mieczkowski, T.D. Petes, M.M. Krasilnikova, S.M. Mirkin, and K.S. Lobachev Chromosome fragility at GAA tracts in yeast depends on repeat orientation and requires mismatch repair EMBO J. 27 2008 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
-
18
-
-
34249337762
-
OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
-
I.V. Kovtun, Y. Liu, M. Bjoras, A. Klungland, S.H. Wilson, and C.T. McMurray OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells Nature 447 2007 447 452
-
(2007)
Nature
, vol.447
, pp. 447-452
-
-
Kovtun, I.V.1
Liu, Y.2
Bjoras, M.3
Klungland, A.4
Wilson, S.H.5
McMurray, C.T.6
-
19
-
-
0029930837
-
Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines
-
P.R. Kramer, C.E. Pearson, and R.R. Sinden Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines Hum. Genet. 98 1996 151 157
-
(1996)
Hum. Genet.
, vol.98
, pp. 151-157
-
-
Kramer, P.R.1
Pearson, C.E.2
Sinden, R.R.3
-
20
-
-
0035710746
-
Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
-
K.J. Livak, and T.D. Schmittgen Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method Methods 25 2001 402 408
-
(2001)
Methods
, vol.25
, pp. 402-408
-
-
Livak, K.J.1
Schmittgen, T.D.2
-
21
-
-
41349090105
-
Generation of human induced pluripotent stem cells from dermal fibroblasts
-
W.E. Lowry, L. Richter, R. Yachechko, A.D. Pyle, J. Tchieu, R. Sridharan, A.T. Clark, and K. Plath Generation of human induced pluripotent stem cells from dermal fibroblasts Proc. Natl. Acad. Sci. USA 105 2008 2883 2888
-
(2008)
Proc. Natl. Acad. Sci. USA
, vol.105
, pp. 2883-2888
-
-
Lowry, W.E.1
Richter, L.2
Yachechko, R.3
Pyle, A.D.4
Tchieu, J.5
Sridharan, R.6
Clark, A.T.7
Plath, K.8
-
22
-
-
18244408334
-
Frataxin knockin mouse
-
C.J. Miranda, M.M. Santos, K. Ohshima, J. Smith, L. Li, M. Bunting, M. Cossée, M. Koenig, J. Sequeiros, J. Kaplan, and M. Pandolfo Frataxin knockin mouse FEBS Lett. 512 2002 291 297
-
(2002)
FEBS Lett.
, vol.512
, pp. 291-297
-
-
Miranda, C.J.1
Santos, M.M.2
Ohshima, K.3
Smith, J.4
Li, L.5
Bunting, M.6
Cossée, M.7
Koenig, M.8
Sequeiros, J.9
Kaplan, J.10
Pandolfo, M.11
-
23
-
-
34250878426
-
Expandable DNA repeats and human disease
-
S.M. Mirkin Expandable DNA repeats and human disease Nature 447 2007 932 940
-
(2007)
Nature
, vol.447
, pp. 932-940
-
-
Mirkin, S.M.1
-
25
-
-
50549089957
-
Disease-specific induced pluripotent stem cells
-
I.-H. Park, N. Arora, H. Huo, N. Maherali, T. Ahfeldt, A. Shimamura, M.W. Lensch, C. Cowan, K. Hochedlinger, and G.Q. Daley Disease-specific induced pluripotent stem cells Cell 134 2008 877 886
-
(2008)
Cell
, vol.134
, pp. 877-886
-
-
Park, I.-H.1
Arora, N.2
Huo, H.3
Maherali, N.4
Ahfeldt, T.5
Shimamura, A.6
Lensch, M.W.7
Cowan, C.8
Hochedlinger, K.9
Daley, G.Q.10
-
26
-
-
38049187707
-
Reprogramming of human somatic cells to pluripotency with defined factors
-
I.-H. Park, R. Zhao, J.A. West, A. Yabuuchi, H. Huo, T.A. Ince, P.H. Lerou, M.W. Lensch, and G.Q. Daley Reprogramming of human somatic cells to pluripotency with defined factors Nature 451 2008 141 146
-
(2008)
Nature
, vol.451
, pp. 141-146
-
-
Park, I.-H.1
Zhao, R.2
West, J.A.3
Yabuuchi, A.4
Huo, H.5
Ince, T.A.6
Lerou, P.H.7
Lensch, M.W.8
Daley, G.Q.9
-
27
-
-
0031035455
-
The effect of parental gender on the GAA dynamic mutation in the FRDA gene
-
L. Pianese, F. Cavalcanti, G. De Michele, A. Filla, G. Campanella, O. Calabrese, I. Castaldo, A. Monticelli, and S. Cocozza The effect of parental gender on the GAA dynamic mutation in the FRDA gene Am. J. Hum. Genet. 60 1997 460 463
-
(1997)
Am. J. Hum. Genet.
, vol.60
, 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
-
28
-
-
44349114629
-
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
-
M. Rai, E. Soragni, K. Jenssen, R. Burnett, D. Herman, G. Coppola, D.H. Geschwind, J.M. Gottesfeld, and M. Pandolfo HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model PLoS ONE 3 2008 e1958
-
(2008)
PLoS ONE
, vol.3
, pp. 1958
-
-
Rai, M.1
Soragni, E.2
Jenssen, K.3
Burnett, R.4
Herman, D.5
Coppola, G.6
Geschwind, D.H.7
Gottesfeld, J.M.8
Pandolfo, M.9
-
29
-
-
33845632499
-
Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats
-
P.M. Rindler, R.M. Clark, L.M. Pollard, I. De Biase, and S.I. Bidichandani Replication in mammalian cells recapitulates the locus-specific differences in somatic instability of genomic GAA triplet-repeats Nucleic Acids Res. 34 2006 6352 6361
-
(2006)
Nucleic Acids Res.
, vol.34
, pp. 6352-6361
-
-
Rindler, P.M.1
Clark, R.M.2
Pollard, L.M.3
De Biase, I.4
Bidichandani, S.I.5
-
30
-
-
0037543991
-
CTG repeat instability and size variation timing in DNA repair-deficient mice
-
C. Savouret, E. Brisson, J. Essers, R. Kanaar, A. Pastink, H. te Riele, C. Junien, and G. Gourdon CTG repeat instability and size variation timing in DNA repair-deficient mice EMBO J. 22 2003 2264 2273
-
(2003)
EMBO J.
, vol.22
, pp. 2264-2273
-
-
Savouret, C.1
Brisson, E.2
Essers, J.3
Kanaar, R.4
Pastink, A.5
Te Riele, H.6
Junien, C.7
Gourdon, G.8
-
31
-
-
67649639511
-
Large-scale expansions of Friedreich's ataxia GAA repeats in yeast
-
A.A. Shishkin, I. Voineagu, R. Matera, N. Cherng, B.T. Chernet, M.M. Krasilnikova, V. Narayanan, K.S. Lobachev, and S.M. Mirkin Large-scale expansions of Friedreich's ataxia GAA repeats in yeast Mol. Cell 35 2009 82 92
-
(2009)
Mol. Cell
, vol.35
, pp. 82-92
-
-
Shishkin, A.A.1
Voineagu, I.2
Matera, R.3
Cherng, N.4
Chernet, B.T.5
Krasilnikova, M.M.6
Narayanan, V.7
Lobachev, K.S.8
Mirkin, S.M.9
-
32
-
-
36248966518
-
Induction of pluripotent stem cells from adult human fibroblasts by defined factors
-
K. Takahashi, K. Tanabe, M. Ohnuki, M. Narita, T. Ichisaka, K. Tomoda, and S. Yamanaka Induction of pluripotent stem cells from adult human fibroblasts by defined factors Cell 131 2007 861 872
-
(2007)
Cell
, vol.131
, pp. 861-872
-
-
Takahashi, K.1
Tanabe, K.2
Ohnuki, M.3
Narita, M.4
Ichisaka, T.5
Tomoda, K.6
Yamanaka, S.7
-
33
-
-
77956214743
-
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells
-
A. Urbach, O. Bar-Nur, G.Q. Daley, and N. Benvenisty Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells Cell Stem Cell 6 2010 407 411
-
(2010)
Cell Stem Cell
, vol.6
, pp. 407-411
-
-
Urbach, A.1
Bar-Nur, O.2
Daley, G.Q.3
Benvenisty, N.4
-
34
-
-
44949208513
-
DNA triplexes and Friedreich ataxia
-
R.D. Wells DNA triplexes and Friedreich ataxia FASEB J. 22 2008 1625 1634
-
(2008)
FASEB J.
, vol.22
, pp. 1625-1634
-
-
Wells, R.D.1
-
35
-
-
67650828240
-
Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks
-
J. Zhao, A. Jain, R.R. Iyer, P.L. Modrich, and K.M. Vasquez Mismatch repair and nucleotide excision repair proteins cooperate in the recognition of DNA interstrand crosslinks Nucleic Acids Res. 37 2009 4420 4429
-
(2009)
Nucleic Acids Res.
, vol.37
, pp. 4420-4429
-
-
Zhao, J.1
Jain, A.2
Iyer, R.R.3
Modrich, P.L.4
Vasquez, K.M.5
|