-
2
-
-
28644433087
-
Normal huntingtin function: An alternative approach to Huntington's disease
-
PMID:16288298
-
Cattaneo E, Zuccato C, Tartari M. Normal huntingtin function: an alternative approach to Huntington's disease. Nat Rev Neurosci 2005; 6:919-30; PMID:16288298; http://dx.doi.org/10.1038/nrn1806
-
(2005)
Nat Rev Neurosci
, vol.6
, pp. 919-930
-
-
Cattaneo, E.1
Zuccato, C.2
Tartari, M.3
-
3
-
-
0025183708
-
Basic local alignment search tool
-
PMID:2231712
-
Altschul SF, Gish W, Miller W, Myers EW, Lipman DJ. Basic local alignment search tool. J Mol Biol 1990; 215:403-10; PMID:2231712; http://dx.doi.org/10. 1016/S0022-2836(05)80360-2
-
(1990)
J Mol Biol
, vol.215
, pp. 403-410
-
-
Altschul, S.F.1
Gish, W.2
Miller, W.3
Myers, E.W.4
Lipman, D.J.5
-
4
-
-
0036671821
-
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions
-
PMID:12191472
-
Lunkes A, Lindenberg KS, Ben-Haïem L, Weber C, Devys D, Landwehrmeyer GB, Mandel JL, Trottier Y. Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusions. Mol Cell 2002; 10:259-69; PMID:12191472; http://dx.doi.org/10.1016/ S1097-2765(02)00602-0
-
(2002)
Mol Cell
, vol.10
, pp. 259-269
-
-
Lunkes, A.1
Lindenberg, K.S.2
Ben-Haïem, L.3
Weber, C.4
Devys, D.5
Landwehrmeyer, G.B.6
Mandel, J.L.7
Trottier, Y.8
-
5
-
-
77950584656
-
Proteolysis of mutant huntingtin produces an exon 1 fragment that accumulates as an aggregated protein in neuronal nuclei in Huntington disease
-
PMID:20086007
-
Landles C, Sathasivam K, Weiss A, Woodman B, Moffitt H, Finkbeiner S, Sun B, Gafni J, Ellerby LM, Trottier Y, et al. Proteolysis of mutant huntingtin produces an exon 1 fragment that accumulates as an aggregated protein in neuronal nuclei in Huntington disease. J Biol Chem 2010; 285:8808-23; PMID:20086007; http://dx.doi.org/10.1074/jbc.M109.075028
-
(2010)
J Biol Chem
, vol.285
, pp. 8808-8823
-
-
Landles, C.1
Sathasivam, K.2
Weiss, A.3
Woodman, B.4
Moffitt, H.5
Finkbeiner, S.6
Sun, B.7
Gafni, J.8
Ellerby, L.M.9
Trottier, Y.10
-
6
-
-
84873463075
-
Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease
-
PMID:23341618
-
Sathasivam K, Neueder A, Gipson TA, Landles C, Benjamin AC, Bondulich MK, Smith DL, Faull RL, Roos RA, Howland D, et al. Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease. Proc Natl Acad Sci U S A 2013; 110:2366-70; PMID:23341618; http://dx.doi.org/10.1073/pnas. 1221891110
-
(2013)
Proc Natl Acad Sci U S A
, vol.110
, pp. 2366-2370
-
-
Sathasivam, K.1
Neueder, A.2
Gipson, T.A.3
Landles, C.4
Benjamin, A.C.5
Bondulich, M.K.6
Smith, D.L.7
Faull, R.L.8
Roos, R.A.9
Howland, D.10
-
7
-
-
0031921640
-
Statistical features of human exons and their flanking regions
-
PMID:9536098
-
Zhang MQ. Statistical features of human exons and their flanking regions. Hum Mol Genet 1998; 7:919-32; PMID:9536098; http://dx.doi.org/10.1093/hmg/7.5. 919
-
(1998)
Hum Mol Genet
, vol.7
, pp. 919-932
-
-
Zhang, M.Q.1
-
8
-
-
2442441507
-
Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
-
PMID:15285897
-
Yeo G, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 2004; 11:377-94; PMID:15285897; http://dx.doi.org/10.1089/1066527041410418
-
(2004)
J Comput Biol
, vol.11
, pp. 377-394
-
-
Yeo, G.1
Burge, C.B.2
-
9
-
-
70349843229
-
Splice site strength-dependent activity and genetic buffering by poly-G runs
-
PMID:19749754
-
Xiao X, Wang Z, Jang M, Nutiu R, Wang ET, Burge CB. Splice site strength-dependent activity and genetic buffering by poly-G runs. Nat Struct Mol Biol 2009; 16:1094-100; PMID:19749754; http://dx.doi.org/10.1038/nsmb.1661
-
(2009)
Nat Struct Mol Biol
, vol.16
, pp. 1094-1100
-
-
Xiao, X.1
Wang, Z.2
Jang, M.3
Nutiu, R.4
Wang, E.T.5
Burge, C.B.6
-
10
-
-
79956023002
-
Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference
-
PMID:21247881
-
de Mezer M, Wojciechowska M, Napierala M, Sobczak K, Krzyzosiak WJ. Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference. Nucleic Acids Res 2011; 39:3852-63; PMID:21247881; http://dx.doi.org/10.1093/nar/gkq1323
-
(2011)
Nucleic Acids Res
, vol.39
, pp. 3852-3863
-
-
De Mezer, M.1
Wojciechowska, M.2
Napierala, M.3
Sobczak, K.4
Krzyzosiak, W.J.5
-
11
-
-
84863610792
-
U1 snRNP determines mRNA length and regulates isoform expression
-
PMID:22770214
-
Berg MG, Singh LN, Younis I, Liu Q, Pinto AM, Kaida D, Zhang Z, Cho S, Sherrill-Mix S, Wan L, et al. U1 snRNP determines mRNA length and regulates isoform expression. Cell 2012; 150:53-64; PMID:22770214; http://dx.doi.org/10. 1016/j.cell.2012.05.029
-
(2012)
Cell
, vol.150
, pp. 53-64
-
-
Berg, M.G.1
Singh, L.N.2
Younis, I.3
Liu, Q.4
Pinto, A.M.5
Kaida, D.6
Zhang, Z.7
Cho, S.8
Sherrill-Mix, S.9
Wan, L.10
-
12
-
-
78649714014
-
Analysis and design of RNA sequencing experiments for identifying isoform regulation
-
PMID:21057496
-
Katz Y, Wang ET, Airoldi EM, Burge CB. Analysis and design of RNA sequencing experiments for identifying isoform regulation. Nat Methods 2010; 7:1009-15; PMID:21057496; http://dx.doi.org/10.1038/nmeth.1528
-
(2010)
Nat Methods
, vol.7
, pp. 1009-1015
-
-
Katz, Y.1
Wang, E.T.2
Airoldi, E.M.3
Burge, C.B.4
-
13
-
-
58249093940
-
The SR protein family of splicing factors: Master regulators of gene expression
-
PMID:19061484
-
Long JC, Caceres JF. The SR protein family of splicing factors: master regulators of gene expression. Biochem J 2009; 417:15-27; PMID:19061484; http://dx.doi.org/10.1042/BJ20081501
-
(2009)
Biochem J
, vol.417
, pp. 15-27
-
-
Long, J.C.1
Caceres, J.F.2
-
14
-
-
77957807647
-
Serine- and arginine-rich proteins 55 and 75 (SRp55 and SRp75) induce production of HIV-1 vpr mRNA by inhibiting the 52-splice site of exon 3
-
PMID:20685659
-
Tranell A, Fenyö EM, Schwartz S. Serine- and arginine-rich proteins 55 and 75 (SRp55 and SRp75) induce production of HIV-1 vpr mRNA by inhibiting the 52-splice site of exon 3. J Biol Chem 2010; 285:31537-47; PMID:20685659; http://dx.doi.org/10.1074/jbc.M109.077453
-
(2010)
J Biol Chem
, vol.285
, pp. 31537-31547
-
-
Tranell, A.1
Fenyö, E.M.2
Schwartz, S.3
-
15
-
-
0033558874
-
Antagonism between RSF1 and SR proteins for both splicesite recognition in vitro and Drosophila development
-
PMID:10090730; http://dx.doi.org/10.1101/gad.13.6.740
-
Labourier EE, Bourbon HMH, Gallouzi IEI, Fostier MM, Allemand EE, Tazi JJ. Antagonism between RSF1 and SR proteins for both splicesite recognition in vitro and Drosophila development. Genes Dev 1999; 13:740-53; http://pubget.com/paper/10090730?inst itut ion=mit.edu; PMID:10090730; http://dx.doi.org/10.1101/gad.13.6.740.
-
(1999)
Genes Dev
, vol.13
, pp. 740-753
-
-
Labourier, E.E.1
Bourbon, H.M.H.2
Gallouzi, I.E.I.3
Fostier, M.M.4
Allemand, E.E.5
Tazi, J.J.6
-
16
-
-
51849126044
-
Longer first introns are a general property of eukaryotic gene structure
-
PMID:18769727
-
Bradnam KR, Korf I. Longer first introns are a general property of eukaryotic gene structure. PLoS One 2008; 3:e3093; PMID:18769727; http://dx.doi.org/10.1371/journal.pone.0003093
-
(2008)
PLoS One
, vol.3
-
-
Bradnam, K.R.1
Korf, I.2
-
17
-
-
33751374466
-
Genomic selective constraints in murid noncoding DNA
-
PMID:17166057
-
Gaffney DJ, Keightley PD. Genomic selective constraints in murid noncoding DNA. PLoS Genet 2006; 2:e204; PMID:17166057; http://dx.doi.org/10. 1371/journal.pgen.0020204
-
(2006)
PLoS Genet
, vol.2
-
-
Gaffney, D.J.1
Keightley, P.D.2
-
18
-
-
34249061913
-
Patterns and rates of intron divergence between humans and chimpanzees
-
PMID:17309804
-
Gazave E, Marqués-Bonet T, Fernando O, Charlesworth B, Navarro A. Patterns and rates of intron divergence between humans and chimpanzees. Genome Biol 2007; 8:R21; PMID:17309804; http://dx.doi.org/10.1186/gb-2007-8-2-r21
-
(2007)
Genome Biol
, vol.8
-
-
Gazave, E.1
Marqués-Bonet, T.2
Fernando, O.3
Charlesworth, B.4
Navarro, A.5
-
19
-
-
33749434938
-
First exons and introns - A survey of GC content and gene structure in the human genome
-
PMID:16922687
-
Kalari KRK, Casavant MM, Bair TBT, Keen HL, Comeron JM, Casavant TL, Scheetz TE. First exons and introns--a survey of GC content and gene structure in the human genome. In Silico Biol 2006; 6:237-42; PMID:16922687
-
(2006)
In Silico Biol
, vol.6
, pp. 237-242
-
-
Kalari, K.R.K.1
Casavant, M.M.2
Bair, T.B.T.3
Keen, H.L.4
Comeron, J.M.5
Casavant, T.L.6
Scheetz, T.E.7
-
20
-
-
0032759990
-
Statistical analysis of the exon-intron structure of higher and lower eukaryote genes
-
PMID:10563578
-
Kriventseva EV, Gelfand MS. Statistical analysis of the exon-intron structure of higher and lower eukaryote genes. J Biomol Struct Dyn 1999; 17:281-8; PMID:10563578; http://dx.doi.org/10.1080/07391102.1999.10508361
-
(1999)
J Biomol Struct Dyn
, vol.17
, pp. 281-288
-
-
Kriventseva, E.V.1
Gelfand, M.S.2
-
21
-
-
20444371957
-
Intron size and exon evolution in Drosophila
-
PMID:15781704
-
Marais G, Nouvellet P, Keightley PD, Charlesworth B. Intron size and exon evolution in Drosophila. Genetics 2005; 170:481-5; PMID:15781704; http://dx.doi.org/10.1534/genetics.104.037333
-
(2005)
Genetics
, vol.170
, pp. 481-485
-
-
Marais, G.1
Nouvellet, P.2
Keightley, P.D.3
Charlesworth, B.4
-
22
-
-
0023896608
-
Structure of vertebrate genes: A statistical analysis implicating selection
-
PMID:3133487
-
Smith MW. Structure of vertebrate genes: a statistical analysis implicating selection. J Mol Evol 1988; 27:45-55; PMID:3133487; http://dx.doi.org/10.1007/BF02099729
-
(1988)
J Mol Evol
, vol.27
, pp. 45-55
-
-
Smith, M.W.1
-
23
-
-
84875077993
-
The evolution of intron size in amniotes: A role for powered flight?
-
PMID:22930760
-
Zhang Q, Edwards SV. The evolution of intron size in amniotes: a role for powered flight? Genome Biol Evol 2012; 4:1033-43; PMID:22930760; http://dx.doi.org/10.1093/gbe/evs070
-
(2012)
Genome Biol Evol
, vol.4
, pp. 1033-1043
-
-
Zhang, Q.1
Edwards, S.V.2
-
24
-
-
0026752351
-
Intron requirement for expression of the human purine nucleoside phosphorylase gene
-
PMID:1620616
-
Jonsson JJ, Foresman MD, Wilson N, McIvor RS. Intron requirement for expression of the human purine nucleoside phosphorylase gene. Nucleic Acids Res 1992; 20:3191-8; PMID:1620616; http://dx.doi.org/10.1093/nar/20.12.3191
-
(1992)
Nucleic Acids Res
, vol.20
, pp. 3191-3198
-
-
Jonsson, J.J.1
Foresman, M.D.2
Wilson, N.3
McIvor, R.S.4
-
25
-
-
0025966661
-
Heterologous introns can enhance expression of transgenes in mice
-
PMID:1988947
-
Palmiter RD, Sandgren EP, Avarbock MR, Allen DD, Brinster RL. Heterologous introns can enhance expression of transgenes in mice. Proc Natl Acad Sci U S A 1991; 88:478-82; PMID:1988947; http://dx.doi.org/10.1073/pnas.88. 2.478
-
(1991)
Proc Natl Acad Sci U S A
, vol.88
, pp. 478-482
-
-
Palmiter, R.D.1
Sandgren, E.P.2
Avarbock, M.R.3
Allen, D.D.4
Brinster, R.L.5
-
26
-
-
0031105860
-
Introns act post-transcriptionally to increase expression of the Arabidopsis thaliana tryptophan pathway gene PAT1
-
PMID:9107035
-
Rose AB, Last RL. Introns act post-transcriptionally to increase expression of the Arabidopsis thaliana tryptophan pathway gene PAT1. Plant J 1997; 11:455-64; PMID:9107035; http://dx.doi.org/10.1046/j.1365-313X.1997. 11030455.x
-
(1997)
Plant J
, vol.11
, pp. 455-464
-
-
Rose, A.B.1
Last, R.L.2
-
27
-
-
0034928719
-
Postembryonic expression of Caenorhabditis elegans mab-21 and its requirement in sensory ray differentiation
-
PMID:11500979
-
Ho SH, So GMK, Chow KL. Postembryonic expression of Caenorhabditis elegans mab-21 and its requirement in sensory ray differentiation. Dev Dyn 2001; 221:422-30; PMID:11500979; http://dx.doi.org/10.1002/dvdy.1161
-
(2001)
Dev Dyn
, vol.221
, pp. 422-430
-
-
Ho, S.H.1
So, G.M.K.2
Chow, K.L.3
-
28
-
-
0033928910
-
Tissue-preferential expression of a rice alpha-tubulin gene, OsTubA1, mediated by the first intron
-
PMID:10889249
-
Jeon JS, Lee S, Jung KH, Jun SH, Kim C, An G. Tissue-preferential expression of a rice alpha-tubulin gene, OsTubA1, mediated by the first intron. Plant Physiol 2000; 123:1005-14; PMID:10889249; http://dx.doi.org/10.1104/pp. 123.3.1005
-
(2000)
Plant Physiol
, vol.123
, pp. 1005-1014
-
-
Jeon, J.S.1
Lee, S.2
Jung, K.H.3
Jun, S.H.4
Kim, C.5
An, G.6
-
29
-
-
0036007582
-
A long leader intron of the Ostub16 rice beta-tubulin gene is required for high-level gene expression and can autonomously promote transcription both in vivo and in vitro
-
PMID:12060225
-
Morello LL, Bardini MM, Sala FF, Breviario DD. A long leader intron of the Ostub16 rice beta-tubulin gene is required for high-level gene expression and can autonomously promote transcription both in vivo and in vitro. Plant J 2002; 29:33-44; PMID:12060225; http://dx.doi.org/10.1046/j.0960-7412.2001.01192. x
-
(2002)
Plant J
, vol.29
, pp. 33-44
-
-
Morello, L.L.1
Bardini, M.M.2
Sala, F.F.3
Breviario, D.D.4
-
30
-
-
0025655858
-
Intron-mediated enhancement of heterologous gene expression in maize
-
PMID:2103480
-
Mascarenhas DD, Mettler IJI, Pierce DAD, Lowe HWH. Intron-mediated enhancement of heterologous gene expression in maize. Plant Mol Biol 1990; 15:913-20; PMID:2103480; http://dx.doi.org/10.1007/BF00039430
-
(1990)
Plant Mol Biol
, vol.15
, pp. 913-920
-
-
Mascarenhas, D.D.1
Mettler, I.J.I.2
Pierce, D.A.D.3
Lowe, H.W.H.4
-
31
-
-
0036850152
-
Requirements for intron-mediated enhancement of gene expression in Arabidopsis
-
PMID:12458797
-
Rose ABA. Requirements for intron-mediated enhancement of gene expression in Arabidopsis. RNA 2002; 8:1444-53; PMID:12458797; http://dx.doi.org/10.1017/ S1355838202020551
-
(2002)
RNA
, vol.8
, pp. 1444-1453
-
-
Rose, A.B.A.1
-
32
-
-
55549118939
-
The effect of intron length on exon creation ratios during the evolution of mammalian genomes
-
PMID:18796579
-
Roy M, Kim N, Xing Y, Lee C. The effect of intron length on exon creation ratios during the evolution of mammalian genomes. RNA 2008; 14:2261-73; PMID:18796579; http://dx.doi.org/10.1261/rna.1024908
-
(2008)
RNA
, vol.14
, pp. 2261-2273
-
-
Roy, M.1
Kim, N.2
Xing, Y.3
Lee, C.4
-
33
-
-
64849109747
-
A computational approach for genomewide mapping of splicing factor binding sites
-
PMID:19296853
-
Akerman M, David-Eden H, Pinter RY, Mandel-Gutfreund Y. A computational approach for genomewide mapping of splicing factor binding sites. Genome Biol 2009; 10:R30; PMID:19296853; http://dx.doi.org/10.1186/gb-2009-10-3-r30
-
(2009)
Genome Biol
, vol.10
-
-
Akerman, M.1
David-Eden, H.2
Pinter, R.Y.3
Mandel-Gutfreund, Y.4
-
34
-
-
0042242582
-
ESEfinder: A web resource to identify exonic splicing enhancers
-
PMID:12824367
-
Cartegni L, Wang J, Zhu Z, Zhang MQ, Krainer AR. ESEfinder: A web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31:3568-71; PMID:12824367; http://dx.doi.org/10.1093/nar/gkg616
-
(2003)
Nucleic Acids Res
, vol.31
, pp. 3568-3571
-
-
Cartegni, L.1
Wang, J.2
Zhu, Z.3
Zhang, M.Q.4
Krainer, A.R.5
-
35
-
-
79957865299
-
Pre-mRNA splicing: Where and when in the nucleus
-
PMID:21514162
-
Han J, Xiong J, Wang D, Fu X-D. Pre-mRNA splicing: where and when in the nucleus. Trends Cell Biol 2011; 21:336-43; PMID:21514162; http://dx.doi.org/10. 1016/j.tcb.2011.03.003
-
(2011)
Trends Cell Biol
, vol.21
, pp. 336-343
-
-
Han, J.1
Xiong, J.2
Wang, D.3
Fu, X.-D.4
-
36
-
-
30044441988
-
The human SWI/SNF subunit Brm is a regulator of alternative splicing
-
PMID:16341228
-
Batsché E, Yaniv M, Muchardt C. The human SWI/SNF subunit Brm is a regulator of alternative splicing. Nat Struct Mol Biol 2006; 13:22-9; PMID:16341228; http://dx.doi.org/10.1038/nsmb1030
-
(2006)
Nat Struct Mol Biol
, vol.13
, pp. 22-29
-
-
Batsché, E.1
Yaniv, M.2
Muchardt, C.3
-
37
-
-
77149175671
-
Regulation of alternative splicing by histone modifications
-
PMID:20133523
-
Luco RF, Pan Q, Tominaga K, Blencowe BJ, Pereira-Smith OM, Misteli T. Regulation of alternative splicing by histone modifications. Science 2010; 327:996-1000; PMID:20133523; http://dx.doi.org/10.1126/science.1184208
-
(2010)
Science
, vol.327
, pp. 996-1000
-
-
Luco, R.F.1
Pan, Q.2
Tominaga, K.3
Blencowe, B.J.4
Pereira-Smith, O.M.5
Misteli, T.6
-
38
-
-
16044373842
-
Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
-
PMID:8898202
-
Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, Lawton M, Trottier Y, Lehrach H, Davies SW, et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell 1996; 87:493-506; PMID:8898202; http://dx.doi.org/10.1016/S0092-8674(00)81369-0
-
(1996)
Cell
, vol.87
, pp. 493-506
-
-
Mangiarini, L.1
Sathasivam, K.2
Seller, M.3
Cozens, B.4
Harper, A.5
Hetherington, C.6
Lawton, M.7
Trottier, Y.8
Lehrach, H.9
Davies, S.W.10
-
39
-
-
0030752709
-
Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain
-
PMID:9302293
-
DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N. Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science 1997; 277:1990-3; PMID:9302293; http://dx.doi.org/10. 1126/science.277.5334.1990
-
(1997)
Science
, vol.277
, pp. 1990-1993
-
-
DiFiglia, M.1
Sapp, E.2
Chase, K.O.3
Davies, S.W.4
Bates, G.P.5
Vonsattel, J.P.6
Aronin, N.7
-
40
-
-
84862643627
-
"Huntingtin holiday": Progress toward an antisense therapy for Huntington's disease
-
PMID:22726826
-
Lu X-H, Yang XW. "Huntingtin holiday": progress toward an antisense therapy for Huntington's disease. Neuron 2012; 74:964-6; PMID:22726826; http://dx.doi.org/10.1016/j.neuron.2012.06.001
-
(2012)
Neuron
, vol.74
, pp. 964-966
-
-
Lu, X.-H.1
Yang, X.W.2
-
41
-
-
68549104413
-
Progress and challenges in RNA interference therapy for Huntington disease
-
PMID:19667213
-
Harper SQ. Progress and challenges in RNA interference therapy for Huntington disease. Arch Neurol 2009; 66:933-8; PMID:19667213; http://dx.doi.org/10.1001/archneurol.2009.180
-
(2009)
Arch Neurol
, vol.66
, pp. 933-938
-
-
Harper, S.Q.1
-
42
-
-
79551530731
-
Oligonucleotide therapeutic approaches for Huntington disease
-
PMID:21285523
-
Sah DWY, Aronin N. Oligonucleotide therapeutic approaches for Huntington disease. J Clin Invest 2011; 121:500-7; PMID:21285523; http://dx.doi.org/10. 1172/JCI45130
-
(2011)
J Clin Invest
, vol.121
, pp. 500-507
-
-
Sah, D.W.Y.1
Aronin, N.2
|