-
1
-
-
77949775195
-
Repeat expansion disease: progress and puzzles in disease pathogenesis
-
La Spada, A.R. and Taylor, J.P. (2010) Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat. Rev. Genet., 11, 247-258.
-
(2010)
Nat. Rev. Genet.
, vol.11
, pp. 247-258
-
-
La Spada, A.R.1
Taylor, J.P.2
-
2
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez, M., Mackenzie, I.R., Boeve, B.F., Boxer, A.L., Baker, M., Rutherford, N.J., Nicholson, A.M., Finch, N.A., Flynn, H., Adamson, J. et al. (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 72, 245-256.
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
DeJesus-Hernandez, M.1
Mackenzie, I.R.2
Boeve, B.F.3
Boxer, A.L.4
Baker, M.5
Rutherford, N.J.6
Nicholson, A.M.7
Finch, N.A.8
Flynn, H.9
Adamson, J.10
-
3
-
-
80051549115
-
Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement
-
Kobayashi, H., Abe, K., Matsuura, T., Ikeda, Y., Hitomi, T., Akechi, Y., Habu, T., Liu, W., Okuda, H. and Koizumi, A. (2011) Expansion of intronic GGCCTG hexanucleotide repeat in NOP56 causes SCA36, a type of spinocerebellar ataxia accompanied by motor neuron involvement. Am. J. Hum. Genet., 89, 121-130.
-
(2011)
Am. J. Hum. Genet.
, vol.89
, pp. 121-130
-
-
Kobayashi, H.1
Abe, K.2
Matsuura, T.3
Ikeda, Y.4
Hitomi, T.5
Akechi, Y.6
Habu, T.7
Liu, W.8
Okuda, H.9
Koizumi, A.10
-
4
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton, A.E., Majounie, E., Waite, A., Simon-Sanchez, J., Rollinson, S., Gibbs, J.R., Schymick, J.C., Laaksovirta, H., van Swieten, J.C., Myllykangas, L. et al. (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 72, 257-268.
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
Majounie, E.2
Waite, A.3
Simon-Sanchez, J.4
Rollinson, S.5
Gibbs, J.R.6
Schymick, J.C.7
Laaksovirta, H.8
van Swieten, J.C.9
Myllykangas, L.10
-
5
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori, C.L., Ricker, K., Moseley, M.L., Jacobsen, J.F., Kress, W., Naylor, S.L., Day, J.W. and Ranum, L.P. (2001) Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science, 293, 864-867.
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
Ricker, K.2
Moseley, M.L.3
Jacobsen, J.F.4
Kress, W.5
Naylor, S.L.6
Day, J.W.7
Ranum, L.P.8
-
6
-
-
0034783271
-
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2
-
Mankodi, A., Urbinati, C.R., Yuan, Q.P., Moxley, R.T., Sansone, V., Krym, M., Henderson, D., Schalling, M., Swanson, M.S. and Thornton, C.A. (2001) Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum. Mol. Genet., 10, 2165-2170.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2165-2170
-
-
Mankodi, A.1
Urbinati, C.R.2
Yuan, Q.P.3
Moxley, R.T.4
Sansone, V.5
Krym, M.6
Henderson, D.7
Schalling, M.8
Swanson, M.S.9
Thornton, C.A.10
-
7
-
-
34147185192
-
Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci
-
Rudnicki, D.D., Holmes, S.E., Lin, M.W., Thornton, C.A., Ross, C.A. and Margolis, R.L. (2007) Huntington's disease-like 2 is associated with CUG repeat-containing RNA foci. Ann. Neurol., 61, 272-282.
-
(2007)
Ann. Neurol.
, vol.61
, pp. 272-282
-
-
Rudnicki, D.D.1
Holmes, S.E.2
Lin, M.W.3
Thornton, C.A.4
Ross, C.A.5
Margolis, R.L.6
-
8
-
-
70149112363
-
RNA gain-of-function in spinocerebellar ataxia type 8
-
Daughters, R.S., Tuttle, D.L., Gao, W., Ikeda, Y., Moseley, M.L., Ebner, T.J., Swanson, M.S. and Ranum, L.P. (2009) RNA gain-of-function in spinocerebellar ataxia type 8. PLoS Genet., 5, e1000600.
-
(2009)
PLoS Genet.
, vol.5
-
-
Daughters, R.S.1
Tuttle, D.L.2
Gao, W.3
Ikeda, Y.4
Moseley, M.L.5
Ebner, T.J.6
Swanson, M.S.7
Ranum, L.P.8
-
9
-
-
1542299596
-
Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
-
Kino, Y., Mori, D., Oma, Y., Takeshita, Y., Sasagawa, N. and Ishiura, S. (2004) Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum. Mol. Genet., 13, 495-507.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 495-507
-
-
Kino, Y.1
Mori, D.2
Oma, Y.3
Takeshita, Y.4
Sasagawa, N.5
Ishiura, S.6
-
10
-
-
11044233708
-
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons
-
Jiang, H., Mankodi, A., Swanson, M.S., Moxley, R.T. and Thornton, C.A. (2004) Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons. Hum. Mol. Genet., 13, 3079-3088.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 3079-3088
-
-
Jiang, H.1
Mankodi, A.2
Swanson, M.S.3
Moxley, R.T.4
Thornton, C.A.5
-
11
-
-
33745248133
-
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy
-
Lin, X., Miller, J.W., Mankodi, A., Kanadia, R.N., Yuan, Y., Moxley, R.T., Swanson, M.S. and Thornton, C.A. (2006) Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum. Mol. Genet., 15, 2087-2097.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 2087-2097
-
-
Lin, X.1
Miller, J.W.2
Mankodi, A.3
Kanadia, R.N.4
Yuan, Y.5
Moxley, R.T.6
Swanson, M.S.7
Thornton, C.A.8
-
12
-
-
0036537492
-
Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
-
Fardaei, M., Rogers, M.T., Thorpe, H.M., Larkin, K., Hamshere, M.G., Harper, P.S. and Brook, J.D. (2002) Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells. Hum. Mol. Genet., 11, 805-814.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 805-814
-
-
Fardaei, M.1
Rogers, M.T.2
Thorpe, H.M.3
Larkin, K.4
Hamshere, M.G.5
Harper, P.S.6
Brook, J.D.7
-
13
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia, R.N., Johnstone, K.A., Mankodi, A., Lungu, C., Thornton, C.A., Esson, D., Timmers, A.M., Hauswirth, W.W. and Swanson, M.S. (2003) A muscleblind knockout model for myotonic dystrophy. Science, 302, 1978-1980.
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
Johnstone, K.A.2
Mankodi, A.3
Lungu, C.4
Thornton, C.A.5
Esson, D.6
Timmers, A.M.7
Hauswirth, W.W.8
Swanson, M.S.9
-
14
-
-
33746796393
-
Reversal ofRNAmissplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy
-
Kanadia, R.N., Shin, J., Yuan, Y., Beattie, S.G., Wheeler, T.M., Thornton, C.A. and Swanson, M.S. (2006) Reversal ofRNAmissplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc. Natl. Acad. Sci. USA, 103, 11748-11753.
-
(2006)
Proc. Natl. Acad. Sci. USA
, vol.103
, pp. 11748-11753
-
-
Kanadia, R.N.1
Shin, J.2
Yuan, Y.3
Beattie, S.G.4
Wheeler, T.M.5
Thornton, C.A.6
Swanson, M.S.7
-
15
-
-
84867784216
-
Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise
-
Chamberlain, C.M. and Ranum, L.P. (2012) Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum. Mol. Genet., 21, 4645-4654.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 4645-4654
-
-
Chamberlain, C.M.1
Ranum, L.P.2
-
16
-
-
39749160587
-
Muscleblind-like 2 (Mbnl2)-deficient mice as a model for myotonic dystrophy
-
Hao, M., Akrami, K., Wei, K., De Diego, C., Che, N., Ku, J.H., Tidball, J., Graves, M.C., Shieh, P.B. and Chen, F. (2008) Muscleblind-like 2 (Mbnl2)-deficient mice as a model for myotonic dystrophy. Dev. Dyn., 237, 403-410.
-
(2008)
Dev. Dyn.
, vol.237
, pp. 403-410
-
-
Hao, M.1
Akrami, K.2
Wei, K.3
De Diego, C.4
Che, N.5
Ku, J.H.6
Tidball, J.7
Graves, M.C.8
Shieh, P.B.9
Chen, F.10
-
17
-
-
84864912095
-
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy
-
Charizanis, K., Lee, K.Y., Batra, R., Goodwin, M., Zhang, C., Yuan, Y., Shiue, L., Cline, M., Scotti, M.M., Xia, G. et al. (2012) Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron, 75, 437-450.
-
(2012)
Neuron
, vol.75
, pp. 437-450
-
-
Charizanis, K.1
Lee, K.Y.2
Batra, R.3
Goodwin, M.4
Zhang, C.5
Yuan, Y.6
Shiue, L.7
Cline, M.8
Scotti, M.M.9
Xia, G.10
-
18
-
-
69949170793
-
The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies
-
Bauer, P.O. and Nukina, N. (2009) The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies. J. Neurochem., 110, 1737-1765.
-
(2009)
J. Neurochem.
, vol.110
, pp. 1737-1765
-
-
Bauer, P.O.1
Nukina, N.2
-
19
-
-
33745545413
-
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
-
Moseley, M.L., Zu, T., Ikeda, Y., Gao, W., Mosemiller, A.K., Daughters, R.S., Chen, G., Weatherspoon, M.R., Clark, H.B., Ebner, T.J. et al. (2006) Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat. Genet., 38, 758-769.
-
(2006)
Nat. Genet.
, vol.38
, pp. 758-769
-
-
Moseley, M.L.1
Zu, T.2
Ikeda, Y.3
Gao, W.4
Mosemiller, A.K.5
Daughters, R.S.6
Chen, G.7
Weatherspoon, M.R.8
Clark, H.B.9
Ebner, T.J.10
-
20
-
-
79955660764
-
An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice
-
Wilburn, B., Rudnicki, D.D., Zhao, J., Weitz, T.M., Cheng, Y., Gu, X., Greiner, E., Park, C.S., Wang, N., Sopher, B.L. et al. (2011) An antisense CAG repeat transcript at JPH3 locus mediates expanded polyglutamine protein toxicity in Huntington's disease-like 2 mice. Neuron, 70, 427-440.
-
(2011)
Neuron
, vol.70
, pp. 427-440
-
-
Wilburn, B.1
Rudnicki, D.D.2
Zhao, J.3
Weitz, T.M.4
Cheng, Y.5
Gu, X.6
Greiner, E.7
Park, C.S.8
Wang, N.9
Sopher, B.L.10
-
21
-
-
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. (2011) Non-ATG-initiated translation directed by microsatellite expansions. Proc. Natl. Acad. Sci. USA, 108, 260-265.
-
(2011)
Proc. Natl. Acad. Sci. USA
, 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
-
22
-
-
45749147456
-
RNA toxicity is a component of ataxin-3 degeneration in Drosophila
-
Li, L.B., Yu, Z., Teng, X. and Bonini, N.M. (2008) RNA toxicity is a component of ataxin-3 degeneration in Drosophila. Nature, 453, 1107-1111.
-
(2008)
Nature
, vol.453
, pp. 1107-1111
-
-
Li, L.B.1
Yu, Z.2
Teng, X.3
Bonini, N.M.4
-
23
-
-
79251642948
-
Long tract of untranslatedCAGrepeats is deleterious in transgenic mice
-
Hsu, R.J., Hsiao, K.M., Lin, M.J., Li, C.Y., Wang, L.C., Chen, L.K. and Pan, H. (2011) Long tract of untranslatedCAGrepeats is deleterious in transgenic mice. PLoS One, 6, e16417.
-
(2011)
PLoS One
, vol.6
-
-
Hsu, R.J.1
Hsiao, K.M.2
Lin, M.J.3
Li, C.Y.4
Wang, L.C.5
Chen, L.K.6
Pan, H.7
-
24
-
-
80455168268
-
CAG repeats mimic CUG repeats in the misregulation of alternative splicing
-
Mykowska, A., Sobczak, K., Wojciechowska, M., Kozlowski, P. and Krzyzosiak, W.J. (2011) CAG repeats mimic CUG repeats in the misregulation of alternative splicing. Nucl. Acids Res., 39, 8938-8951.
-
(2011)
Nucl. Acids Res.
, vol.39
, pp. 8938-8951
-
-
Mykowska, A.1
Sobczak, K.2
Wojciechowska, M.3
Kozlowski, P.4
Krzyzosiak, W.J.5
-
25
-
-
79953716235
-
Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans
-
Wang, L.C., Chen, K.Y., Pan, H., Wu, C.C., Chen, P.H., Liao, Y.T., Li, C., Huang, M.L. and Hsiao, K.M. (2011) Muscleblind participates in RNA toxicity of expanded CAG and CUG repeats in Caenorhabditis elegans. Cell Mol. Life Sci., 68, 1255-1267.
-
(2011)
Cell Mol. Life Sci.
, vol.68
, pp. 1255-1267
-
-
Wang, L.C.1
Chen, K.Y.2
Pan, H.3
Wu, C.C.4
Chen, P.H.5
Liao, Y.T.6
Li, C.7
Huang, M.L.8
Hsiao, K.M.9
-
26
-
-
23744450059
-
Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy
-
Ho, T.H., Savkur, R.S., Poulos, M.G., Mancini, M.A., Swanson, M.S. and Cooper, T.A. (2005) Colocalization of muscleblind with RNA foci is separable from mis-regulation of alternative splicing in myotonic dystrophy. J. Cell Sci., 118, 2923-2933.
-
(2005)
J. Cell Sci.
, vol.118
, pp. 2923-2933
-
-
Ho, T.H.1
Savkur, R.S.2
Poulos, M.G.3
Mancini, M.A.4
Swanson, M.S.5
Cooper, T.A.6
-
27
-
-
34548718165
-
Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs
-
Yuan, Y., Compton, S.A., Sobczak, K., Stenberg, M.G., Thornton, C.A., Griffith, J.D. and Swanson, M.S. (2007) Muscleblind-like 1 interacts with RNA hairpins in splicing target and pathogenic RNAs. Nucl. Acids Res., 35, 5474-5486.
-
(2007)
Nucl. Acids Res.
, vol.35
, pp. 5474-5486
-
-
Yuan, Y.1
Compton, S.A.2
Sobczak, K.3
Stenberg, M.G.4
Thornton, C.A.5
Griffith, J.D.6
Swanson, M.S.7
-
28
-
-
41349110876
-
Overexpression ofMBNL1fetal isoforms and modified splicing of Tau in theDM1brain: two individual consequences ofCUGtrinucleotide repeats
-
Dhaenens, C.M., Schraen-Maschke, S., Tran, H., Vingtdeux, V., Ghanem, D., Leroy, O., Delplanque, J., Vanbrussel, E., Delacourte, A., Vermersch, P. et al. (2008) Overexpression ofMBNL1fetal isoforms and modified splicing of Tau in theDM1brain: two individual consequences ofCUGtrinucleotide repeats. Exp. Neurol., 210, 467-478.
-
(2008)
Exp. Neurol.
, vol.210
, pp. 467-478
-
-
Dhaenens, C.M.1
Schraen-Maschke, S.2
Tran, H.3
Vingtdeux, V.4
Ghanem, D.5
Leroy, O.6
Delplanque, J.7
Vanbrussel, E.8
Delacourte, A.9
Vermersch, P.10
-
29
-
-
80053213247
-
Autoregulated splicing of muscleblind-like 1 (MBNL1) Pre-mRNA
-
Gates, D.P., Coonrod, L.A. and Berglund, J.A. (2011) Autoregulated splicing of muscleblind-like 1 (MBNL1) Pre-mRNA. J. Biol. Chem., 286, 34224-34233.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 34224-34233
-
-
Gates, D.P.1
Coonrod, L.A.2
Berglund, J.A.3
-
30
-
-
77955026115
-
A conserved motif controls nuclear localization of Drosophila Muscleblind
-
Fernandez-Costa, J.M. and Artero, R. (2010) A conserved motif controls nuclear localization of Drosophila Muscleblind. Mol. Cells, 30, 65-70.
-
(2010)
Mol. Cells
, vol.30
, pp. 65-70
-
-
Fernandez-Costa, J.M.1
Artero, R.2
-
31
-
-
79955541419
-
Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms
-
Tran, H., Gourrier, N., Lemercier-Neuillet, C., Dhaenens, C.M., Vautrin, A., Fernandez-Gomez, F.J., Arandel, L., Carpentier, C., Obriot, H., Eddarkaoui, S. et al. (2011) Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms. J. Biol. Chem., 286, 16435-16446.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 16435-16446
-
-
Tran, H.1
Gourrier, N.2
Lemercier-Neuillet, C.3
Dhaenens, C.M.4
Vautrin, A.5
Fernandez-Gomez, F.J.6
Arandel, L.7
Carpentier, C.8
Obriot, H.9
Eddarkaoui, S.10
-
32
-
-
14044252328
-
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
-
Dansithong, W., Paul, S., Comai, L. and Reddy, S. (2005) MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J. Biol. Chem., 280, 5773-5780.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 5773-5780
-
-
Dansithong, W.1
Paul, S.2
Comai, L.3
Reddy, S.4
-
33
-
-
34548842522
-
Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains
-
Smith, K.P., Byron, M., Johnson, C., Xing, Y. and Lawrence, J.B. (2007) Defining early steps in mRNA transport: mutant mRNA in myotonic dystrophy type I is blocked at entry into SC-35 domains. J. Cell Biol., 178, 951-964.
-
(2007)
J. Cell Biol.
, vol.178
, pp. 951-964
-
-
Smith, K.P.1
Byron, M.2
Johnson, C.3
Xing, Y.4
Lawrence, J.B.5
-
34
-
-
79956068320
-
Stochastic and reversible aggregation ofmRNAwith expanded CUG-triplet repeats
-
Querido, E., Gallardo, F., Beaudoin, M., Menard, C. and Chartrand, P. (2011) Stochastic and reversible aggregation ofmRNAwith expanded CUG-triplet repeats. J. Cell Sci., 124, 1703-1714.
-
(2011)
J. Cell Sci.
, vol.124
, pp. 1703-1714
-
-
Querido, E.1
Gallardo, F.2
Beaudoin, M.3
Menard, C.4
Chartrand, P.5
-
35
-
-
79954616116
-
Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations
-
Kino, Y., Washizu, C., Aquilanti, E., Okuno, M., Kurosawa, M., Yamada, M., Doi, H. and Nukina, N. (2011) Intracellular localization and splicing regulation of FUS/TLS are variably affected by amyotrophic lateral sclerosis-linked mutations. Nucl. Acids Res., 39, 2781-2798.
-
(2011)
Nucl. Acids Res.
, vol.39
, pp. 2781-2798
-
-
Kino, Y.1
Washizu, C.2
Aquilanti, E.3
Okuno, M.4
Kurosawa, M.5
Yamada, M.6
Doi, H.7
Nukina, N.8
-
36
-
-
0037377379
-
Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein
-
Gromak, N., Matlin, A.J., Cooper, T.A. and Smith, C.W. (2003) Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein. RNA, 9, 443-456.
-
(2003)
RNA
, vol.9
, pp. 443-456
-
-
Gromak, N.1
Matlin, A.J.2
Cooper, T.A.3
Smith, C.W.4
-
37
-
-
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. and Ishiura, S. (2009) MBNL and CELF proteins regulate alternative splicing of the skeletal muscle chloride channel CLCN1. Nucl. Acids Res., 37, 6477-6490.
-
(2009)
Nucl. 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
-
38
-
-
51649083754
-
Design of peptide inhibitors for the importin alpha/beta nuclear import pathway by activity-based profiling
-
Kosugi, S., Hasebe, M., Entani, T., Takayama, S., Tomita, M. and Yanagawa, H. (2008) Design of peptide inhibitors for the importin alpha/beta nuclear import pathway by activity-based profiling. Chem. Biol., 15, 940-949.
-
(2008)
Chem. Biol.
, vol.15
, pp. 940-949
-
-
Kosugi, S.1
Hasebe, M.2
Entani, T.3
Takayama, S.4
Tomita, M.5
Yanagawa, H.6
-
39
-
-
79960912049
-
Nuclear import by karyopherin-betas: recognition and inhibition
-
Chook, Y.M. and Suel, K.E. (2011) Nuclear import by karyopherin-betas: recognition and inhibition. Biochim. Biophys. Acta., 1813, 1593-1606.
-
(2011)
Biochim. Biophys. Acta.
, vol.1813
, pp. 1593-1606
-
-
Chook, Y.M.1
Suel, K.E.2
-
40
-
-
85011940615
-
Conserved developmental alternative splicing of muscleblind-like (MBNL) transcripts regulates MBNL localization and activity
-
Terenzi, F. and Ladd, A.N. (2010) Conserved developmental alternative splicing of muscleblind-like (MBNL) transcripts regulates MBNL localization and activity. RNA Biol., 7, 43-55.
-
(2010)
RNA Biol.
, vol.7
, pp. 43-55
-
-
Terenzi, F.1
Ladd, A.N.2
-
41
-
-
84896959065
-
Compound loss of muscleblind-like function in myotonic dystrophy.EMBO Mol
-
Lee, K.Y., Li, M., Manchanda, M., Batra, R., Charizanis, K., Mohan, A., Warren, S.A., Chamberlain, C.M., Finn, D., Hong, H. et al. (2013) Compound loss of muscleblind-like function in myotonic dystrophy.EMBO Mol. Med., 5, 1887-1900.
-
(2013)
Med.
, vol.5
, pp. 1887-1900
-
-
Lee, K.Y.1
Li, M.2
Manchanda, M.3
Batra, R.4
Charizanis, K.5
Mohan, A.6
Warren, S.A.7
Chamberlain, C.M.8
Finn, D.9
Hong, H.10
-
42
-
-
28544440718
-
RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1
-
Adereth, Y., Dammai, V., Kose, N., Li, R. and Hsu, T. (2005) RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1. Nat. Cell Biol., 7, 1240-1247.
-
(2005)
Nat. Cell Biol.
, vol.7
, pp. 1240-1247
-
-
Adereth, Y.1
Dammai, V.2
Kose, N.3
Li, R.4
Hsu, T.5
-
43
-
-
84865201988
-
Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins
-
Wang, E.T., Cody, N.A., Jog, S., Biancolella, M., Wang, T.T., Treacy, D.J., Luo, S., Schroth, G.P., Housman, D.E., Reddy, S. et al. (2012) Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins. Cell, 150, 710-724.
-
(2012)
Cell
, vol.150
, pp. 710-724
-
-
Wang, E.T.1
Cody, N.A.2
Jog, S.3
Biancolella, M.4
Wang, T.T.5
Treacy, D.J.6
Luo, S.7
Schroth, G.P.8
Housman, D.E.9
Reddy, S.10
-
44
-
-
79956023002
-
Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference
-
de Mezer, M., Wojciechowska, M., Napierala, M., Sobczak, K. and Krzyzosiak, W.J. (2011) Mutant CAG repeats of Huntingtin transcript fold into hairpins, form nuclear foci and are targets for RNA interference. Nucl. Acids Res., 39, 3852-3863.
-
(2011)
Nucl. Acids Res.
, vol.39
, pp. 3852-3863
-
-
de Mezer, M.1
Wojciechowska, M.2
Napierala, M.3
Sobczak, K.4
Krzyzosiak, W.J.5
-
45
-
-
14844361744
-
Comparative analysis of the cytotoxicity of homopolymeric amino acids
-
Oma, Y., Kino, Y., Sasagawa, N. and Ishiura, S. (2005) Comparative analysis of the cytotoxicity of homopolymeric amino acids. Biochim. Biophys. Acta., 1748, 174-179.
-
(2005)
Biochim. Biophys. Acta.
, vol.1748
, pp. 174-179
-
-
Oma, Y.1
Kino, Y.2
Sasagawa, N.3
Ishiura, S.4
-
46
-
-
84864439453
-
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
-
Wheeler, T.M., Leger, A.J., Pandey, S.K., MacLeod, A.R., Nakamori, M., Cheng, S.H., Wentworth, B.M., Bennett, C.F. and Thornton, C.A. (2012) Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature, 488, 111-115.
-
(2012)
Nature
, vol.488
, pp. 111-115
-
-
Wheeler, T.M.1
Leger, A.J.2
Pandey, S.K.3
MacLeod, A.R.4
Nakamori, M.5
Cheng, S.H.6
Wentworth, B.M.7
Bennett, C.F.8
Thornton, C.A.9
-
47
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash, P.E., Bieniek, K.F., Gendron, T.F., Caulfield, T., Lin, W.L., Dejesus-Hernandez, M., van Blitterswijk, M.M., Jansen-West, K., Paul, J.W. 3rd, Rademakers, R. et al. (2013) Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron, 77, 639-646.
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
Bieniek, K.F.2
Gendron, T.F.3
Caulfield, T.4
Lin, W.L.5
Dejesus-Hernandez, M.6
van Blitterswijk, M.M.7
Jansen-West, K.8
Paul, J.W.9
Rademakers, R.10
-
48
-
-
84892585689
-
Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins
-
Mori, K., Arzberger, T., Grasser, F.A., Gijselinck, I., May, S., Rentzsch, K., Weng, S.M., Schludi, M.H., van der Zee, J., Cruts, M. et al. (2013) Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins. Acta. Neuropathol., 126, 881-893.
-
(2013)
Acta. Neuropathol.
, vol.126
, pp. 881-893
-
-
Mori, K.1
Arzberger, T.2
Grasser, F.A.3
Gijselinck, I.4
May, S.5
Rentzsch, K.6
Weng, S.M.7
Schludi, M.H.8
van der Zee, J.9
Cruts, M.10
-
49
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
Mori, K., Weng, S.M., Arzberger, T., May, S., Rentzsch, K., Kremmer, E., Schmid, B., Kretzschmar, H.A., Cruts, M., Van Broeckhoven, C. et al. (2013) The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science, 339, 1335-1338.
-
(2013)
Science
, vol.339
, pp. 1335-1338
-
-
Mori, K.1
Weng, S.M.2
Arzberger, T.3
May, S.4
Rentzsch, K.5
Kremmer, E.6
Schmid, B.7
Kretzschmar, H.A.8
Cruts, M.9
Van Broeckhoven, C.10
-
50
-
-
84877331220
-
CGG repeat-associated translation mediates neurodegeneration in fragile Xtremor ataxia syndrome
-
Todd, P.K., Oh, S.Y., Krans, A., He, F., Sellier, C., Frazer, M., Renoux, A.J., Chen, K.C., Scaglione, K.M., Basrur, V. et al. (2013) CGG repeat-associated translation mediates neurodegeneration in fragile Xtremor ataxia syndrome. Neuron, 78, 440-455.
-
(2013)
Neuron
, vol.78
, pp. 440-455
-
-
Todd, P.K.1
Oh, S.Y.2
Krans, A.3
He, F.4
Sellier, C.5
Frazer, M.6
Renoux, A.J.7
Chen, K.C.8
Scaglione, K.M.9
Basrur, V.10
-
51
-
-
84890837640
-
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
-
Zu, T., Liu, Y., Banez-Coronel, M., Reid, T., Pletnikova, O., Lewis, J., Miller, T.M., Harms, M.B., Falchook, A.E., Subramony, S.H. et al. (2013) RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proc. Natl. Acad. Sci. USA, 110, E4968-E4977.
-
(2013)
Proc. Natl. Acad. Sci. USA
, vol.110
, pp. E4968-E4977
-
-
Zu, T.1
Liu, Y.2
Banez-Coronel, M.3
Reid, T.4
Pletnikova, O.5
Lewis, J.6
Miller, T.M.7
Harms, M.B.8
Falchook, A.E.9
Subramony, S.H.10
-
52
-
-
84892590289
-
Antisense transcripts of the expandedC9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS
-
Gendron, T.F., Bieniek, K.F., Zhang, Y.J., Jansen-West, K., Ash, P.E., Caulfield, T., Daughrity, L., Dunmore, J.H., Castanedes-Casey, M., Chew, J. et al. (2013) Antisense transcripts of the expandedC9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS. Acta Neuropathol., 126, 829-844.
-
(2013)
Acta Neuropathol.
, vol.126
, pp. 829-844
-
-
Gendron, T.F.1
Bieniek, K.F.2
Zhang, Y.J.3
Jansen-West, K.4
Ash, P.E.5
Caulfield, T.6
Daughrity, L.7
Dunmore, J.H.8
Castanedes-Casey, M.9
Chew, J.10
-
53
-
-
0035394801
-
In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts
-
Fardaei, M., Larkin, K., Brook, J.D. and Hamshere, M.G. (2001) In vivo co-localisation of MBNL protein with DMPK expanded-repeat transcripts. Nucl. Acids Res., 29, 2766-2771.
-
(2001)
Nucl. Acids Res.
, vol.29
, pp. 2766-2771
-
-
Fardaei, M.1
Larkin, K.2
Brook, J.D.3
Hamshere, M.G.4
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