-
1
-
-
84876449659
-
The unstable repeats-three evolving faces of neurological disease
-
Nelson D.L., Orr H.T., Warren S.T. The unstable repeats-three evolving faces of neurological disease. Neuron 2013, 77:825-843.
-
(2013)
Neuron
, vol.77
, pp. 825-843
-
-
Nelson, D.L.1
Orr, H.T.2
Warren, S.T.3
-
2
-
-
77958109197
-
Mechanisms of trinucleotide repeat instability during human development
-
McMurray C.T. Mechanisms of trinucleotide repeat instability during human development. Nat Rev Genet 2010, 11:786-799.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 786-799
-
-
McMurray, C.T.1
-
3
-
-
77949775195
-
Repeat expansion disease: progress and puzzles in disease pathogenesis
-
La Spada A.R., Taylor J.P. Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 2010, 11:247-258.
-
(2010)
Nat Rev Genet
, vol.11
, pp. 247-258
-
-
La Spada, A.R.1
Taylor, J.P.2
-
4
-
-
67649983121
-
Instability and chromatin structure of expanded trinucleotide repeats
-
Dion V., Wilson J.H. Instability and chromatin structure of expanded trinucleotide repeats. Trends Genet 2009, 25:288-297.
-
(2009)
Trends Genet
, vol.25
, pp. 288-297
-
-
Dion, V.1
Wilson, J.H.2
-
5
-
-
34250878426
-
Expandable DNA repeats and human disease
-
Mirkin S.M. Expandable DNA repeats and human disease. Nature 2007, 447:932-940.
-
(2007)
Nature
, vol.447
, pp. 932-940
-
-
Mirkin, S.M.1
-
6
-
-
0028857157
-
Mechanisms of DNA expansion
-
McMurray C.T. Mechanisms of DNA expansion. Chromosoma 1995, 104:2-13.
-
(1995)
Chromosoma
, vol.104
, pp. 2-13
-
-
McMurray, C.T.1
-
7
-
-
0028882509
-
Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population
-
Goldberg Y.P., McMurray C.T., Zeisler J., Almqvist E., Sillence D., Richards F., Gacy A.M., Buchanan J., Telenius H., Hayden M.R. Increased instability of intermediate alleles in families with sporadic Huntington disease compared to similar sized intermediate alleles in the general population. Hum Mol Genet 1995, 4:1911-1918.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1911-1918
-
-
Goldberg, Y.P.1
McMurray, C.T.2
Zeisler, J.3
Almqvist, E.4
Sillence, D.5
Richards, F.6
Gacy, A.M.7
Buchanan, J.8
Telenius, H.9
Hayden, M.R.10
-
8
-
-
84871816787
-
Huntington's disease: how intermediate are intermediate repeat lengths?
-
Squitieri F., Jankovic J. Huntington's disease: how intermediate are intermediate repeat lengths?. Mov Disord 2012, 27:1714-1717.
-
(2012)
Mov Disord
, vol.27
, pp. 1714-1717
-
-
Squitieri, F.1
Jankovic, J.2
-
9
-
-
79955987951
-
CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS
-
Hoem G., Raske C.R., Garcia-Arocena D., Tassone F., Sanchez E., Ludwig A.L., Iwahashi C.K., Kumar M., Yang J.E., Hagerman P.J. CGG-repeat length threshold for FMR1 RNA pathogenesis in a cellular model for FXTAS. Hum Mol Genet 2011, 20:2161-2170.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 2161-2170
-
-
Hoem, G.1
Raske, C.R.2
Garcia-Arocena, D.3
Tassone, F.4
Sanchez, E.5
Ludwig, A.L.6
Iwahashi, C.K.7
Kumar, M.8
Yang, J.E.9
Hagerman, P.J.10
-
10
-
-
84890229219
-
CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease
-
Semaka A., Kay C., Doty C., Collins J.A., Bijlsma E.K., Richards F., Goldberg Y.P., Hayden M.R. CAG size-specific risk estimates for intermediate allele repeat instability in Huntington disease. J Med Genet 2013, 50:696-703.
-
(2013)
J Med Genet
, vol.50
, pp. 696-703
-
-
Semaka, A.1
Kay, C.2
Doty, C.3
Collins, J.A.4
Bijlsma, E.K.5
Richards, F.6
Goldberg, Y.P.7
Hayden, M.R.8
-
11
-
-
0029053371
-
Trinucleotide repeats that expand in human disease form hairpin structures in vitro
-
Gacy A.M., Goellner G., Juranić N., Macura S., McMurray C.T. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 1995, 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
-
12
-
-
0029035379
-
Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli
-
Kang S., Jaworski A., Ohshima K., Wells R.D. Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 1995, 10:213-218.
-
(1995)
Nat Genet
, vol.10
, pp. 213-218
-
-
Kang, S.1
Jaworski, A.2
Ohshima, K.3
Wells, R.D.4
-
13
-
-
84880669898
-
Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation
-
Pluciennik A., Burdett V., Baitinger C., Iyer R.R., Shi K., Modrich P. Extrahelical (CAG)/(CTG) triplet repeat elements support proliferating cell nuclear antigen loading and MutLα endonuclease activation. Proc Natl Acad Sci U S A 2013, 110:12277-12282.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 12277-12282
-
-
Pluciennik, A.1
Burdett, V.2
Baitinger, C.3
Iyer, R.R.4
Shi, K.5
Modrich, P.6
-
14
-
-
56749157389
-
Transcription-coupled DNA repair: two decades of progress and surprises
-
Hanawalt P.C., Spivak G. Transcription-coupled DNA repair: two decades of progress and surprises. Nat Rev Mol Cell Biol 2008, 9:958-970.
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 958-970
-
-
Hanawalt, P.C.1
Spivak, G.2
-
15
-
-
34249337762
-
OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells
-
Kovtun I.V., Liu Y., Bjoras M., Klungland A., Wilson S.H., McMurray C.T. OGG1 initiates age-dependent CAG trinucleotide expansion in somatic cells. Nature 2007, 447:447-452.
-
(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
-
16
-
-
84862792679
-
DNA base excision repair: a mechanism of trinucleotide repeat expansion
-
Liu Y., Wilson S.H. DNA base excision repair: a mechanism of trinucleotide repeat expansion. Trends Biochem Sci 2012, 37:162-172.
-
(2012)
Trends Biochem Sci
, vol.37
, pp. 162-172
-
-
Liu, Y.1
Wilson, S.H.2
-
18
-
-
84876160611
-
Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions
-
Follonier C., Oehler J., Herrador R., Lopes M. Friedreich's ataxia-associated GAA repeats induce replication-fork reversal and unusual molecular junctions. Nat Struct Mol Biol 2013, 20:486-494.
-
(2013)
Nat Struct Mol Biol
, vol.20
, pp. 486-494
-
-
Follonier, C.1
Oehler, J.2
Herrador, R.3
Lopes, M.4
-
19
-
-
84892149837
-
To switch or not to switch: at the origin of repeat expansion disease
-
Mirkin E.V., Mirkin S.M. To switch or not to switch: at the origin of repeat expansion disease. Mol Cell 2014, 53:1-3.
-
(2014)
Mol Cell
, vol.53
, pp. 1-3
-
-
Mirkin, E.V.1
Mirkin, S.M.2
-
20
-
-
49349089840
-
Partial reconstitution of DNA large loop repair with purified proteins from Saccharomyces cerevisiae
-
Sommer D., Stith C.M., Burgers P.M., Lahue R.S. Partial reconstitution of DNA large loop repair with purified proteins from Saccharomyces cerevisiae. Nucleic Acids Res 2008, 36:4699-4707.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 4699-4707
-
-
Sommer, D.1
Stith, C.M.2
Burgers, P.M.3
Lahue, R.S.4
-
21
-
-
84876193944
-
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site
-
Gueneau E., Dherin C., Legrand P., Tellier-Lebegue C., Gilquin B., Bonnesoeur P., Londino F., Quemener C., Le Du M.H., Márquez J.A., Moutiez M., Gondry M., Boiteux S., Charbonnier J.B. Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site. Nat Struct Mol Biol 2013, 20:461-468.
-
(2013)
Nat Struct Mol Biol
, vol.20
, pp. 461-468
-
-
Gueneau, E.1
Dherin, C.2
Legrand, P.3
Tellier-Lebegue, C.4
Gilquin, B.5
Bonnesoeur, P.6
Londino, F.7
Quemener, C.8
Le Du, M.H.9
Márquez, J.A.10
Moutiez, M.11
Gondry, M.12
Boiteux, S.13
Charbonnier, J.B.14
-
22
-
-
84856074733
-
ATP hydrolysis by RAD50 protein switches MRE11 enzyme from endonuclease to exonuclease
-
Majka J., Alford B., Ausio J., Finn R.M., McMurray C.T. ATP hydrolysis by RAD50 protein switches MRE11 enzyme from endonuclease to exonuclease. J Biol Chem 2012, 287:2328-2341.
-
(2012)
J Biol Chem
, vol.287
, pp. 2328-2341
-
-
Majka, J.1
Alford, B.2
Ausio, J.3
Finn, R.M.4
McMurray, C.T.5
-
23
-
-
84875974739
-
Coincident resection at both ends of random, γ-induced double-strand breaks requires MRX (MRN), Sae2 (Ctp1), and Mre11-nuclease
-
Westmoreland J.W., Resnick M.A. Coincident resection at both ends of random, γ-induced double-strand breaks requires MRX (MRN), Sae2 (Ctp1), and Mre11-nuclease. PLoS Genet 2013, 9:e1003420.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003420
-
-
Westmoreland, J.W.1
Resnick, M.A.2
-
24
-
-
84882355071
-
Insight into mechanisms of 3'-5' exonuclease activity and removal of bulky 8,5'-cyclopurine adducts by apurinic/apyrimidinic endonucleases
-
Mazouzi A., Vigouroux A., Aikeshev B., Brooks P.J., Saparbaev M.K., Morera S., Ishchenko A.A. Insight into mechanisms of 3'-5' exonuclease activity and removal of bulky 8,5'-cyclopurine adducts by apurinic/apyrimidinic endonucleases. Proc Natl Acad Sci U S A 2013, 110:E3071-E3080.
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. E3071-E3080
-
-
Mazouzi, A.1
Vigouroux, A.2
Aikeshev, B.3
Brooks, P.J.4
Saparbaev, M.K.5
Morera, S.6
Ishchenko, A.A.7
-
25
-
-
84880842863
-
Joint molecule resolution requires the redundant activities of MUS-81 and XPF-1 during Caenorhabditis elegans meiosis
-
O'Neil N.J., Martin J.S., Youds J.L., Ward J.D., Petalcorin M.I., Rose A.M., Boulton S.J. Joint molecule resolution requires the redundant activities of MUS-81 and XPF-1 during Caenorhabditis elegans meiosis. PLoS Genet 2013, 9:e1003582.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003582
-
-
O'Neil, N.J.1
Martin, J.S.2
Youds, J.L.3
Ward, J.D.4
Petalcorin, M.I.5
Rose, A.M.6
Boulton, S.J.7
-
26
-
-
84902119190
-
The cutting edges in DNA repair, licensing, and fidelity: DNA and RNA repair nucleases sculpt DNA to measure twice, cut once
-
Tsutakawa S.E., Lafrance-Vanasse J., Tainer J.A. The cutting edges in DNA repair, licensing, and fidelity: DNA and RNA repair nucleases sculpt DNA to measure twice, cut once. DNA Repair (Amst) 2014, pii:S1568-7864(14)00093-7.
-
(2014)
DNA Repair (Amst)
-
-
Tsutakawa, S.E.1
Lafrance-Vanasse, J.2
Tainer, J.A.3
-
27
-
-
84898965087
-
Substrate specificity of the MUS81-EME2 structure selective endonuclease
-
Pepe A., West S.C. Substrate specificity of the MUS81-EME2 structure selective endonuclease. Nucleic Acids Res 2014, 42:3833-3845.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 3833-3845
-
-
Pepe, A.1
West, S.C.2
-
28
-
-
84886241606
-
Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells
-
Wyatt H.D., Sarbajna S., Matos J., West S.C. Coordinated actions of SLX1-SLX4 and MUS81-EME1 for Holliday junction resolution in human cells. Mol Cell 2013, 52:234-247.
-
(2013)
Mol Cell
, vol.52
, pp. 234-247
-
-
Wyatt, H.D.1
Sarbajna, S.2
Matos, J.3
West, S.C.4
-
29
-
-
84880772917
-
Combinatorial regulation of meiotic Holliday junction resolution in C. elegans by HIM-6 (BLM) helicase, SLX-4, and the SLX-1, MUS-81 and XPF-1 nucleases
-
Agostinho A., Meier B., Sonneville R., Jagut M., Woglar A., Blow J., Jantsch V., Gartner A. Combinatorial regulation of meiotic Holliday junction resolution in C. elegans by HIM-6 (BLM) helicase, SLX-4, and the SLX-1, MUS-81 and XPF-1 nucleases. PLoS Genet 2013, 9:e1003591.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003591
-
-
Agostinho, A.1
Meier, B.2
Sonneville, R.3
Jagut, M.4
Woglar, A.5
Blow, J.6
Jantsch, V.7
Gartner, A.8
-
30
-
-
0032475933
-
Structure of the DNA repair and replication endonuclease and exonuclease FEN-1: coupling DNA and PCNA binding to FEN-1 activity
-
Hosfield D.J., Mol C.D., Shen B., Tainer J.A. Structure of the DNA repair and replication endonuclease and exonuclease FEN-1: coupling DNA and PCNA binding to FEN-1 activity. Cell 1998, 95:135-146.
-
(1998)
Cell
, vol.95
, pp. 135-146
-
-
Hosfield, D.J.1
Mol, C.D.2
Shen, B.3
Tainer, J.A.4
-
31
-
-
84869208744
-
A novel role of human Holliday junction resolvase GEN1 in the maintenance of centrosome integrity
-
Gao M., Rendtlew Danielsen J., Wei L.Z., Zhou D.P., Xu Q., Li M.M., Wang Z.Q., Tong W.M., Yang Y.G. A novel role of human Holliday junction resolvase GEN1 in the maintenance of centrosome integrity. PLoS ONE 2012, 7:e49687.
-
(2012)
PLoS ONE
, vol.7
, pp. e49687
-
-
Gao, M.1
Rendtlew Danielsen, J.2
Wei, L.Z.3
Zhou, D.P.4
Xu, Q.5
Li, M.M.6
Wang, Z.Q.7
Tong, W.M.8
Yang, Y.G.9
-
32
-
-
84859714621
-
Delineation of joint molecule resolution pathways in meiosis identifies a crossover-specific resolvase
-
Zakharyevich K., Tang S., Ma Y., Hunter N. Delineation of joint molecule resolution pathways in meiosis identifies a crossover-specific resolvase. Cell 2012, 149:334-347.
-
(2012)
Cell
, vol.149
, pp. 334-347
-
-
Zakharyevich, K.1
Tang, S.2
Ma, Y.3
Hunter, N.4
-
33
-
-
84864014165
-
ZRANB3 is a structure-specific ATP-dependent endonuclease involved in replication stress response
-
Weston R., Peeters H., Ahel D. ZRANB3 is a structure-specific ATP-dependent endonuclease involved in replication stress response. Genes Dev 2012, 26:1558-1572.
-
(2012)
Genes Dev
, vol.26
, pp. 1558-1572
-
-
Weston, R.1
Peeters, H.2
Ahel, D.3
-
35
-
-
84858413986
-
Pso2 (SNM1) is a DNA structure-specific endonuclease
-
Tiefenbac T., Junop M. Pso2 (SNM1) is a DNA structure-specific endonuclease. Nucleic Acids Res 2012, 40:2131-2139.
-
(2012)
Nucleic Acids Res
, vol.40
, pp. 2131-2139
-
-
Tiefenbac, T.1
Junop, M.2
-
36
-
-
84876718351
-
Crystal structure of metagenome-derived LC11-RNase H1 in complex with RNA/DNA hybrid
-
Yuan J., Ghosal G., Chen J. Crystal structure of metagenome-derived LC11-RNase H1 in complex with RNA/DNA hybrid. J Struct Biol 2013, 182:144-154.
-
(2013)
J Struct Biol
, vol.182
, pp. 144-154
-
-
Yuan, J.1
Ghosal, G.2
Chen, J.3
-
37
-
-
84894274509
-
A phosphate-binding pocket within the platform-PAZ-connector helix cassette of human Dicer
-
Tian Y., Simanshu D.K., Ma J.B., Park J.E., Heo I., Kim V.N., Patel D.J. A phosphate-binding pocket within the platform-PAZ-connector helix cassette of human Dicer. Mol Cell 2014, 53:606-616.
-
(2014)
Mol Cell
, vol.53
, pp. 606-616
-
-
Tian, Y.1
Simanshu, D.K.2
Ma, J.B.3
Park, J.E.4
Heo, I.5
Kim, V.N.6
Patel, D.J.7
-
38
-
-
84893157352
-
Structures of Cas9 endonucleases reveal RNA-mediated conformational activation
-
Jinek M., Jiang F., Taylor D.W., Sternberg S.H., Kaya E., Ma E., Anders C., Hauer M., Zhou K., Lin S., Kaplan M., Iavarone A.T., Charpentier E., Nogales E., Doudna J.A. Structures of Cas9 endonucleases reveal RNA-mediated conformational activation. Science 2014, 343:1247997.
-
(2014)
Science
, vol.343
, pp. 1247997
-
-
Jinek, M.1
Jiang, F.2
Taylor, D.W.3
Sternberg, S.H.4
Kaya, E.5
Ma, E.6
Anders, C.7
Hauer, M.8
Zhou, K.9
Lin, S.10
Kaplan, M.11
Iavarone, A.T.12
Charpentier, E.13
Nogales, E.14
Doudna, J.A.15
-
39
-
-
0032581018
-
Influence of hairpins on template reannealing at trinucleotide repeat duplexes: a model for slipped DNA
-
Gacy M., McMurray C.T. Influence of hairpins on template reannealing at trinucleotide repeat duplexes: a model for slipped DNA. Biochemistry 1998, 37:9426-9434.
-
(1998)
Biochemistry
, vol.37
, pp. 9426-9434
-
-
Gacy, M.1
McMurray, C.T.2
-
40
-
-
84896732761
-
Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome
-
Colak D., Zaninovic N., Cohen M.S., Rosenwaks Z., Yang W.Y., Gerhardt J., Disney M.D., Jaffrey S.R. Promoter-bound trinucleotide repeat mRNA drives epigenetic silencing in fragile X syndrome. Science 2014, 343:1002-1005.
-
(2014)
Science
, vol.343
, pp. 1002-1005
-
-
Colak, D.1
Zaninovic, N.2
Cohen, M.S.3
Rosenwaks, Z.4
Yang, W.Y.5
Gerhardt, J.6
Disney, M.D.7
Jaffrey, S.R.8
-
41
-
-
84901346090
-
Transcription-associated R-loop formation across the human FMR1 CGG-repeat region
-
Loomis E.W., Sanz L.A., Chédin F., Hagerman P.J. Transcription-associated R-loop formation across the human FMR1 CGG-repeat region. PLoS Genet 2014, 10:e1004294.
-
(2014)
PLoS Genet
, vol.10
, pp. e1004294
-
-
Loomis, E.W.1
Sanz, L.A.2
Chédin, F.3
Hagerman, P.J.4
-
42
-
-
36248967098
-
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
-
Ladd P.D., Smith L.E., Rabaia N.A., Moore J.M., Georges S.A., Hansen R.S., Hagerman R.J., Tassone F., Tapscott S.J., Filippova G.N. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 2007, 16:3174-3187.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 3174-3187
-
-
Ladd, P.D.1
Smith, L.E.2
Rabaia, N.A.3
Moore, J.M.4
Georges, S.A.5
Hansen, R.S.6
Hagerman, R.J.7
Tassone, F.8
Tapscott, S.J.9
Filippova, G.N.10
-
43
-
-
84898606082
-
Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia
-
Lai Y., Beaver J.M., Lorente K., Melo J., Ramjagsingh S., Agoulnik I.U., Zhang Z., Liu Y. Base excision repair of chemotherapeutically-induced alkylated DNA damage predominantly causes contractions of expanded GAA repeats associated with Friedreich's ataxia. PLOS ONE 2014, 9:e93464.
-
(2014)
PLOS ONE
, vol.9
, pp. e93464
-
-
Lai, Y.1
Beaver, J.M.2
Lorente, K.3
Melo, J.4
Ramjagsingh, S.5
Agoulnik, I.U.6
Zhang, Z.7
Liu, Y.8
-
44
-
-
0028264043
-
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
-
Hagerman R.J., Hull C.E., Safanda J.F., Carpenter I., Staley L.W., O'Connor R.A., Seydel C., Mazzocco M.M.M., Snow K., Thibodeau S.N. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 1994, 51:298-308.
-
(1994)
Am J Med Genet
, vol.51
, pp. 298-308
-
-
Hagerman, R.J.1
Hull, C.E.2
Safanda, J.F.3
Carpenter, I.4
Staley, L.W.5
O'Connor, R.A.6
Seydel, C.7
Mazzocco, M.M.M.8
Snow, K.9
Thibodeau, S.N.10
-
45
-
-
0037100616
-
Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine
-
Pietrobono R., Pomponi M.G., Tabolacci E., Oostra B., Chiurazzi P., Neri G. Quantitative analysis of DNA demethylation and transcriptional reactivation of the FMR1 gene in fragile X cells treated with 5-azadeoxycytidine. Nucleic Acids Res 2002, 30:3278-3285.
-
(2002)
Nucleic Acids Res
, vol.30
, pp. 3278-3285
-
-
Pietrobono, R.1
Pomponi, M.G.2
Tabolacci, E.3
Oostra, B.4
Chiurazzi, P.5
Neri, G.6
-
46
-
-
84868115310
-
Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice
-
Møllersen L., Rowe A.D., Illuzzi J.L., Hildrestrand G.A., Gerhold K.J., Tveterås L., Bjølgerud A., Wilson D.M., Bjørås M., Klungland A. Neil1 is a genetic modifier of somatic and germline CAG trinucleotide repeat instability in R6/1 mice. Hum Mol Genet 2012, 21:4939-4947.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 4939-4947
-
-
Møllersen, L.1
Rowe, A.D.2
Illuzzi, J.L.3
Hildrestrand, G.A.4
Gerhold, K.J.5
Tveterås, L.6
Bjølgerud, A.7
Wilson, D.M.8
Bjørås, M.9
Klungland, A.10
-
47
-
-
81855206487
-
Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1
-
Hubert L., Lin Y., Dion V., Wilson J.H. Xpa deficiency reduces CAG trinucleotide repeat instability in neuronal tissues in a mouse model of SCA1. Hum Mol Genet 2011, 20:4822-4830.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 4822-4830
-
-
Hubert, L.1
Lin, Y.2
Dion, V.3
Wilson, J.H.4
-
48
-
-
77953887860
-
Partners in crime: bidirectional transcription in unstable microsatellite disease
-
Batra R., Charizanis K., Swanson M.S. Partners in crime: bidirectional transcription in unstable microsatellite disease. Hum Mol Genet 2010, 19:R77-R82.
-
(2010)
Hum Mol Genet
, vol.19
, pp. R77-R82
-
-
Batra, R.1
Charizanis, K.2
Swanson, M.S.3
-
49
-
-
84891870087
-
Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in fragile X syndrome and fragile X-associated tremor/ataxia syndrome
-
Pastori C., Peschansky V.J., Barbouth D., Mehta A., Silva J.P., Wahlestedt C. Comprehensive analysis of the transcriptional landscape of the human FMR1 gene reveals two new long noncoding RNAs differentially expressed in fragile X syndrome and fragile X-associated tremor/ataxia syndrome. Hum Genet 2014, 133:59-67.
-
(2014)
Hum Genet
, vol.133
, pp. 59-67
-
-
Pastori, C.1
Peschansky, V.J.2
Barbouth, D.3
Mehta, A.4
Silva, J.P.5
Wahlestedt, C.6
-
50
-
-
79953180492
-
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
-
Tollervey J.R., Curk T., Rogelj B., Briese M., Cereda M., Kayikci M., König J., Hortobágyi T., Nishimura A.L., Zupunski V., Patani R., Chandran S., Rot G., Zupan B., Shaw C.E., Ule J. Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nat Neurosci 2011, 14:452-458.
-
(2011)
Nat Neurosci
, vol.14
, pp. 452-458
-
-
Tollervey, J.R.1
Curk, T.2
Rogelj, B.3
Briese, M.4
Cereda, M.5
Kayikci, M.6
König, J.7
Hortobágyi, T.8
Nishimura, A.L.9
Zupunski, V.10
Patani, R.11
Chandran, S.12
Rot, G.13
Zupan, B.14
Shaw, C.E.15
Ule, J.16
-
51
-
-
84898987950
-
The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids
-
Kuo P.H., Chiang C.H., Wang Y.T., Doudeva L.G., Yuan H.S. The crystal structure of TDP-43 RRM1-DNA complex reveals the specific recognition for UG- and TG-rich nucleic acids. Nucleic Acids Res 2014, 42:4712-4722.
-
(2014)
Nucleic Acids Res
, vol.42
, pp. 4712-4722
-
-
Kuo, P.H.1
Chiang, C.H.2
Wang, Y.T.3
Doudeva, L.G.4
Yuan, H.S.5
-
52
-
-
84890134733
-
Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43
-
Lukavsky P.J., Daujotyte D., Tollervey J.R., Ule J., Stuani C., Buratti E., Baralle F.E., Damberger F.F. Molecular basis of UG-rich RNA recognition by the human splicing factor TDP-43. Nat Struct Mol Biol 2013, 20:1443-1449.
-
(2013)
Nat Struct Mol Biol
, vol.20
, pp. 1443-1449
-
-
Lukavsky, P.J.1
Daujotyte, D.2
Tollervey, J.R.3
Ule, J.4
Stuani, C.5
Buratti, E.6
Baralle, F.E.7
Damberger, F.F.8
-
53
-
-
84863307704
-
TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells
-
Yu Z., Fan D., Gui B., Shi L., Xuan C., Shan L., Wang Q., Shang Y., Wang Y. TDP-43 interacts with fragile X mental retardation protein (FMRP)/Staufen (STAU1) and regulates SIRT1 expression in neuronal cells. J Biol Chem 2012, 287:22560-22572.
-
(2012)
J Biol Chem
, vol.287
, pp. 22560-22572
-
-
Yu, Z.1
Fan, D.2
Gui, B.3
Shi, L.4
Xuan, C.5
Shan, L.6
Wang, Q.7
Shang, Y.8
Wang, Y.9
-
54
-
-
71049162902
-
MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1
-
Kino Y., Washizu C., Oma Y., Onishi H., Nezu Y., Sasagawa N., Nukina N., Ishiura S. MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucleic Acids Res 2009, 37:6477-6490.
-
(2009)
Nucleic Acids Res
, vol.37
, pp. 6477-6490
-
-
Kino, Y.1
Washizu, C.2
Oma, Y.3
Onishi, H.4
Nezu, Y.5
Sasagawa, N.6
Nukina, N.7
Ishiura, S.8
-
55
-
-
84892734498
-
Examining the interactions of the splicing factor MBNL1 with target RNA sequences via a label-free, multiplex method
-
Yadav A.R., Mace C.R., Miller B.L. Examining the interactions of the splicing factor MBNL1 with target RNA sequences via a label-free, multiplex method. Anal Chem 2014, 86:1067-1075.
-
(2014)
Anal Chem
, vol.86
, pp. 1067-1075
-
-
Yadav, A.R.1
Mace, C.R.2
Miller, B.L.3
-
56
-
-
36248932588
-
MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T
-
Warf M.B., Berglund J.A. MBNL binds similar RNA structures in the CUG repeats of myotonic dystrophy and its pre-mRNA substrate cardiac troponin T. RNA 2007, 13:2238-2251.
-
(2007)
RNA
, vol.13
, pp. 2238-2251
-
-
Warf, M.B.1
Berglund, J.A.2
-
57
-
-
78751616191
-
TDP-43 regulates its mRNA levels through a negative feedback loop
-
Ayala Y.M., De Conti L., Avendaño-Vázquez S.E., Dhir A., Romano M., D'Ambrogio A., Tollervey J., Ule J., Baralle M., Buratti E., Baralle F.E. TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J 2011, 30:277-288.
-
(2011)
EMBO J
, vol.30
, pp. 277-288
-
-
Ayala, Y.M.1
De Conti, L.2
Avendaño-Vázquez, S.E.3
Dhir, A.4
Romano, M.5
D'Ambrogio, A.6
Tollervey, J.7
Ule, J.8
Baralle, M.9
Buratti, E.10
Baralle, F.E.11
-
58
-
-
27844514227
-
TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail, an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing
-
Buratti E., Brindisi A., Giombi M., Tisminetzky S., Ayala Y.M. TDP-43 binds heterogeneous nuclear ribonucleoprotein A/B through its C-terminal tail, an important region for the inhibition of cystic fibrosis transmembrane conductance regulator exon 9 splicing. J Biol Chem 2005, 280:37572-37584.
-
(2005)
J Biol Chem
, vol.280
, pp. 37572-37584
-
-
Buratti, E.1
Brindisi, A.2
Giombi, M.3
Tisminetzky, S.4
Ayala, Y.M.5
-
59
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
Zu T., Gibbens B., Doty N.S., Gomes-Pereira M., Huguet A., Stone M.D., Margolis J., Peterson M., Markowski T.W., Ingram M.A., et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc Natl Acad Sci U S A 2011, 108:260-265.
-
(2011)
Proc Natl Acad Sci U S A
, vol.108
, pp. 260-265
-
-
Zu, T.1
Gibbens, B.2
Doty, N.S.3
Gomes-Pereira, M.4
Huguet, A.5
Stone, M.D.6
Margolis, J.7
Peterson, M.8
Markowski, T.W.9
Ingram, M.A.10
-
60
-
-
84875985444
-
The truncated C-terminal RNA recognition motif of TDP-43 protein plays a key role in forming proteinaceous aggregates
-
Wang Y.T., Kuo P.H., Chiang C.H., Liang J.R., Chen Y.R., Wang S., Shen J.C., Yuan H.S. The truncated C-terminal RNA recognition motif of TDP-43 protein plays a key role in forming proteinaceous aggregates. J Biol Chem 2013, 288:9049-9057.
-
(2013)
J Biol Chem
, vol.288
, pp. 9049-9057
-
-
Wang, Y.T.1
Kuo, P.H.2
Chiang, C.H.3
Liang, J.R.4
Chen, Y.R.5
Wang, S.6
Shen, J.C.7
Yuan, H.S.8
-
61
-
-
84855929223
-
SIRT1 protects against α-synuclein aggregation by activating molecular chaperones
-
Donmez G., Arun A., Chung C.Y., McLean P.J., Lindquist S., Guarente L. SIRT1 protects against α-synuclein aggregation by activating molecular chaperones. J Neurosci 2012, 32:124-132.
-
(2012)
J Neurosci
, vol.32
, pp. 124-132
-
-
Donmez, G.1
Arun, A.2
Chung, C.Y.3
McLean, P.J.4
Lindquist, S.5
Guarente, L.6
-
62
-
-
78651463452
-
Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases
-
Xu W., Yang H., Liu Y., Yang Y., Wang P., Kim S.H., Ito S., Yang C., Wang P., Xiao M.T., Liu L.X., Jiang W.Q., Liu J., Zhang J.Y., Wang B., Frye S., Zhang Y., Xu Y.H., Lei Q.Y., Guan K.L., Zhao S.M., Xiong Y. Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of α-ketoglutarate-dependent dioxygenases. Cancer Cell 2011, 19:17-30.
-
(2011)
Cancer Cell
, vol.19
, pp. 17-30
-
-
Xu, W.1
Yang, H.2
Liu, Y.3
Yang, Y.4
Wang, P.5
Kim, S.H.6
Ito, S.7
Yang, C.8
Wang, P.9
Xiao, M.T.10
Liu, L.X.11
Jiang, W.Q.12
Liu, J.13
Zhang, J.Y.14
Wang, B.15
Frye, S.16
Zhang, Y.17
Xu, Y.H.18
Lei, Q.Y.19
Guan, K.L.20
Zhao, S.M.21
Xiong, Y.22
more..
-
63
-
-
33646505724
-
Structural insights into histone demethylation by JMJD2 family members
-
Chen Z., Zang J., Whetstine J., Hong X., Davrazou F., Kutateladze T.G., Simpson M., Mao Q., Pan C.H., Dai S., Hagman J., Hansen K., Shi Y., Zhang G. Structural insights into histone demethylation by JMJD2 family members. Cell 2006, 125:691-702.
-
(2006)
Cell
, vol.125
, pp. 691-702
-
-
Chen, Z.1
Zang, J.2
Whetstine, J.3
Hong, X.4
Davrazou, F.5
Kutateladze, T.G.6
Simpson, M.7
Mao, Q.8
Pan, C.H.9
Dai, S.10
Hagman, J.11
Hansen, K.12
Shi, Y.13
Zhang, G.14
-
64
-
-
84886860116
-
TET enzymes, TDG and the dynamics of DNA demethylation
-
Kohli R.M., Zhang Y. TET enzymes, TDG and the dynamics of DNA demethylation. Nature 2013, 502:472-479.
-
(2013)
Nature
, vol.502
, pp. 472-479
-
-
Kohli, R.M.1
Zhang, Y.2
|