-
1
-
-
33749261633
-
Myotonic dystrophies type 1 and 2: a summary on current aspects
-
Schara U., Schoser B.G.H. Myotonic dystrophies type 1 and 2: a summary on current aspects. Semin. Pediatr. Neurol. 2006, 13:71-79.
-
(2006)
Semin. Pediatr. Neurol.
, vol.13
, pp. 71-79
-
-
Schara, U.1
Schoser, B.G.H.2
-
2
-
-
84856034458
-
Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges
-
Sicot G., Gourdon G., Gomes-Pereira M. Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges. Hum. Mol. Genet. 2011, 20:116-123.
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 116-123
-
-
Sicot, G.1
Gourdon, G.2
Gomes-Pereira, M.3
-
3
-
-
43449128899
-
Biochemistry of Tau in Alzheimer's disease and related neurological disorders
-
Sergeant N., Bretteville A., Hamdane M., Caillet-Boudin M.L., Grognet P., Bombois S., Blum D., Delacourte A., Pasquier F., Vanmechelen E., Schraen-Maschke S., Buée L. Biochemistry of Tau in Alzheimer's disease and related neurological disorders. Expert Rev. Proteomics 2008, 5:207-224.
-
(2008)
Expert Rev. Proteomics
, vol.5
, pp. 207-224
-
-
Sergeant, N.1
Bretteville, A.2
Hamdane, M.3
Caillet-Boudin, M.L.4
Grognet, P.5
Bombois, S.6
Blum, D.7
Delacourte, A.8
Pasquier, F.9
Vanmechelen, E.10
Schraen-Maschke, S.11
Buée, L.12
-
4
-
-
0034782506
-
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
-
Sergeant N., Sablonnière B., Schraen-Maschke S., Ghestem A., Maurage C.A., Wattez A., Vermersch P., Delacourte A. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum. Mol. Genet. 2001, 10:2143-2155.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2143-2155
-
-
Sergeant, N.1
Sablonnière, B.2
Schraen-Maschke, S.3
Ghestem, A.4
Maurage, C.A.5
Wattez, A.6
Vermersch, P.7
Delacourte, A.8
-
5
-
-
33644779759
-
Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1
-
Leroy O., Wang J., Maurage C.-A., Parent M., Cooper T., Buée L., Sergeant N., Andreadis A., Caillet-Boudin M.L. Brain-specific change in alternative splicing of Tau exon 6 in myotonic dystrophy type 1. Biochim. Biophys. Acta 2006, 1762:460-467.
-
(2006)
Biochim. Biophys. Acta
, vol.1762
, pp. 460-467
-
-
Leroy, O.1
Wang, J.2
Maurage, C.-A.3
Parent, M.4
Cooper, T.5
Buée, L.6
Sergeant, N.7
Andreadis, A.8
Caillet-Boudin, M.L.9
-
6
-
-
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., Thornton C.A. 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. 2004, 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
-
7
-
-
41349110876
-
Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats
-
Dhaenens C.M., Schraen-Maschke S., Tran H., Vingtdeux V., Ghanem D., Leroy O., Delplanque J., Vanbrussel E., Delacourte A., Vermersch P., Maurage C.A., Gruffat H., Sergeant A., Mahadevan M.S., Ishiura S., Buée L., Cooper T.A., Caillet-Boudin M.L., Charlet-Berguerand N., Sablonnière B., Sergeant N. Overexpression of MBNL1 fetal isoforms and modified splicing of Tau in the DM1 brain: two individual consequences of CUG trinucleotide repeats. Exp. Neurol. 2008, 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
Maurage, C.A.11
Gruffat, H.12
Sergeant, A.13
Mahadevan, M.S.14
Ishiura, S.15
Buée, L.16
Cooper, T.A.17
Caillet-Boudin, M.L.18
Charlet-Berguerand, N.19
Sablonnière, B.20
Sergeant, N.21
more..
-
8
-
-
28044436700
-
Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease
-
Maurage C.A., Udd B., Ruchoux M.M., Vermersch P., Kalimo H., Krahe R., Delacourte A., Sergeant N. Similar brain tau pathology in DM2/PROMM and DM1/Steinert disease. Neurology 2005, 65:1636-1638.
-
(2005)
Neurology
, vol.65
, pp. 1636-1638
-
-
Maurage, C.A.1
Udd, B.2
Ruchoux, M.M.3
Vermersch, P.4
Kalimo, H.5
Krahe, R.6
Delacourte, A.7
Sergeant, N.8
-
9
-
-
77955978487
-
From tau phosphorylation to tau aggregation: what about neuronal death?
-
Buée L., Troquier L., Burnouf S., Belarbi K., Van der Jeugd A., Ahmed T., Fernandez-Gomez F., Caillierez R., Grosjean M.E., Begard S., Barbot B., Demeyer D., Obriot H., Brion I., Buée-Scherrer V., Maurage C.A., Balschun D., D'hooge R., Hamdane M., Blum D., Sergeant N. From tau phosphorylation to tau aggregation: what about neuronal death?. Biochem. Soc. Trans. 2010, 38:967-972.
-
(2010)
Biochem. Soc. Trans.
, vol.38
, pp. 967-972
-
-
Buée, L.1
Troquier, L.2
Burnouf, S.3
Belarbi, K.4
Van der Jeugd, A.5
Ahmed, T.6
Fernandez-Gomez, F.7
Caillierez, R.8
Grosjean, M.E.9
Begard, S.10
Barbot, B.11
Demeyer, D.12
Obriot, H.13
Brion, I.14
Buée-Scherrer, V.15
Maurage, C.A.16
Balschun, D.17
D'hooge, R.18
Hamdane, M.19
Blum, D.20
Sergeant, N.21
more..
-
10
-
-
84864390773
-
Tau alternative splicing in familial and sporadic tauopathies
-
Niblock M., Gallo J.M. Tau alternative splicing in familial and sporadic tauopathies. Biochem. Soc. Trans. 2012, 40(4):677-680.
-
(2012)
Biochem. Soc. Trans.
, vol.40
, Issue.4
, pp. 677-680
-
-
Niblock, M.1
Gallo, J.M.2
-
11
-
-
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., Brook J.D. 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. 2002, 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
-
12
-
-
28544440718
-
RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1
-
Adereth Y., Dammai V., Kose N., Li R., Hsu T. RNA-dependent integrin alpha3 protein localization regulated by the Muscleblind-like protein MLP1. Nat. Cell Biol. 2005, 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
-
13
-
-
84865201988
-
Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins
-
Wang E.T., Cody N.A.L., Jog S., Biancolella M., Wang T.T., Treacy D.J., Luo S., Schroth G.P., Housman D.E., Reddy S., Lécuyer E., Burge C. Transcriptome-wide regulation of pre-mRNA splicing and mRNA localization by muscleblind proteins. Cell 2012, 150:710-724.
-
(2012)
Cell
, vol.150
, pp. 710-724
-
-
Wang, E.T.1
Cody, N.A.L.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
Lécuyer, E.11
Burge, C.12
-
14
-
-
33644858553
-
The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing
-
Pascual M., Vicente M., Monferrer L., Artero R. The Muscleblind family of proteins: an emerging class of regulators of developmentally programmed alternative splicing. Differentiation 2006, 74:65-80.
-
(2006)
Differentiation
, vol.74
, pp. 65-80
-
-
Pascual, M.1
Vicente, M.2
Monferrer, L.3
Artero, R.4
-
16
-
-
84858440814
-
The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins
-
Dasgupta T., Ladd A.N. The importance of CELF control: molecular and biological roles of the CUG-BP, Elav-like family of RNA-binding proteins. Wiley Interdiscip. Rev. RNA 2012, 3:104-121.
-
(2012)
Wiley Interdiscip. Rev. RNA
, vol.3
, pp. 104-121
-
-
Dasgupta, T.1
Ladd, A.N.2
-
17
-
-
33748529021
-
ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I
-
Leroy O., Dhaenens C.M., Schraen-Maschke S., Belarbi K., Delacourte A., Andreadis A., et al. ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I. J. Neurosci. Res. 2006, 84:852-859.
-
(2006)
J. Neurosci. Res.
, vol.84
, pp. 852-859
-
-
Leroy, O.1
Dhaenens, C.M.2
Schraen-Maschke, S.3
Belarbi, K.4
Delacourte, A.5
Andreadis, A.6
-
18
-
-
79955609313
-
Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing
-
Dhaenens C.M., Tran H., Frandemiche M.L., Carpentier C., Schraen-Maschke S., Sistiaga A., et al. Mis-splicing of Tau exon 10 in myotonic dystrophy type 1 is reproduced by overexpression of CELF2 but not by MBNL1 silencing. Biochim. Biophys. Acta 2011, 1812:732-742.
-
(2011)
Biochim. Biophys. Acta
, vol.1812
, pp. 732-742
-
-
Dhaenens, C.M.1
Tran, H.2
Frandemiche, M.L.3
Carpentier, C.4
Schraen-Maschke, S.5
Sistiaga, A.6
-
19
-
-
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., Kumar A., Ashizawa T., Clark H.B., Kimura T., Takahashi M.P., Fujimura H., Jinnai K., Yoshikawa H., Gomes-Pereira M., Gourdon G., Sakai N., Nishino S., Foster T.C., Ares M., Darnell R.B., Swanson M.S. Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy. Neuron 2012, 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
Kumar, A.11
Ashizawa, T.12
Clark, H.B.13
Kimura, T.14
Takahashi, M.P.15
Fujimura, H.16
Jinnai, K.17
Yoshikawa, H.18
Gomes-Pereira, M.19
Gourdon, G.20
Sakai, N.21
Nishino, S.22
Foster, T.C.23
Ares, M.24
Darnell, R.B.25
Swanson, M.S.26
more..
-
20
-
-
84863275756
-
Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain
-
Suenaga K., Lee K.Y., Nakamori M., Tatsumi Y., Takahashi M.P., Fujimura H., Jinnai K., Yoshikawa H., Du H., Ares M., Swanson M.S., Kimura T. Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain. PLoS ONE 2012, 7:193-218.
-
(2012)
PLoS ONE
, vol.7
, pp. 193-218
-
-
Suenaga, K.1
Lee, K.Y.2
Nakamori, M.3
Tatsumi, Y.4
Takahashi, M.P.5
Fujimura, H.6
Jinnai, K.7
Yoshikawa, H.8
Du, H.9
Ares, M.10
Swanson, M.S.11
Kimura, T.12
-
21
-
-
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., Swanson M.S. A muscleblind knockout model for myotonic dystrophy. Science 2003, 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
-
22
-
-
1542299596
-
Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats
-
Kino Y., Mori D., Oma Y., Takeshita Y., Sasagawa N., Ishiura S. Muscleblind protein, MBNL1/EXP, binds specifically to CHHG repeats. Hum. Mol. Genet. 2004, 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
-
23
-
-
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
-
24
-
-
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., Delattre L., Van Brussels E., Holt I., Morris G.E., Sablonnière B., Buée L., Charlet-Berguerand N., Schraen-Maschke S., Furling D., Behm-Ansmant I., Branlant C., Caillet-Boudin M.L., Sergeant N. Analysis of exonic regions involved in nuclear localization, splicing activity, and dimerization of Muscleblind-like-1 isoforms. J. Biol. Chem. 2011, 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
Delattre, L.11
Van Brussels, E.12
Holt, I.13
Morris, G.E.14
Sablonnière, B.15
Buée, L.16
Charlet-Berguerand, N.17
Schraen-Maschke, S.18
Furling, D.19
Behm-Ansmant, I.20
Branlant, C.21
Caillet-Boudin, M.L.22
Sergeant, N.23
more..
-
25
-
-
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., Thorton C. Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy. Hum. Mol. Genet. 2006, 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.7
Thorton, C.8
-
26
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips A.V., Timchenko L.T., Cooper T.A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 1998, 280:737-741.
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
28
-
-
59849124809
-
Altered splicing of Tau in DM1 is different from the foetal splicing process
-
Ghanem D., Tran H., Dhaenens C.M., Schraen-Maschke S., Sablonnière B., Buée L., Sergeant N., Caillet-Boudin M.L. Altered splicing of Tau in DM1 is different from the foetal splicing process. FEBS Lett. 2009, 583:675-679.
-
(2009)
FEBS Lett.
, vol.583
, pp. 675-679
-
-
Ghanem, D.1
Tran, H.2
Dhaenens, C.M.3
Schraen-Maschke, S.4
Sablonnière, B.5
Buée, L.6
Sergeant, N.7
Caillet-Boudin, M.L.8
-
29
-
-
84857687714
-
SpliceAid 2: a database of human splicing factors expression data and RNA target motifs
-
Piva F., Giulietti M., Burini A.B., Principato G. SpliceAid 2: a database of human splicing factors expression data and RNA target motifs. Hum. Mutat. 2012, 33:81-85.
-
(2012)
Hum. Mutat.
, vol.33
, pp. 81-85
-
-
Piva, F.1
Giulietti, M.2
Burini, A.B.3
Principato, G.4
-
30
-
-
84867784216
-
Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise
-
Chamberlain C.M., Ranum L.P.W. Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise. Hum. Mol. Genet. 2012, 21:4645-4654.
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 4645-4654
-
-
Chamberlain, C.M.1
Ranum, L.P.W.2
-
31
-
-
33746796393
-
Reversal of RNA missplicing 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., Swanson M.S. Reversal of RNA missplicing and myotonia after muscleblind overexpression in a mouse poly(CUG) model for myotonic dystrophy. Proc. Natl. Acad. Sci. 2006, 103:11748-11753.
-
(2006)
Proc. Natl. Acad. Sci.
, 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
-
32
-
-
77952306763
-
MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing
-
Goers E.S., Purcell J., Voelker R.B., Gates D.P., Berglund J.A. MBNL1 binds GC motifs embedded in pyrimidines to regulate alternative splicing. Nucleic Acids Res. 2010, 38:2467-2484.
-
(2010)
Nucleic Acids Res.
, vol.38
, pp. 2467-2484
-
-
Goers, E.S.1
Purcell, J.2
Voelker, R.B.3
Gates, D.P.4
Berglund, J.A.5
-
33
-
-
0042520916
-
Modulation of the membrane-binding domain of tau protein: splicing regulation of exon 2
-
Li K., Arikan M.C., Andreadis A. Modulation of the membrane-binding domain of tau protein: splicing regulation of exon 2. Brain Res. Mol. 2003, 116:94-105.
-
(2003)
Brain Res. Mol.
, vol.116
, pp. 94-105
-
-
Li, K.1
Arikan, M.C.2
Andreadis, A.3
-
34
-
-
84890132388
-
Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges
-
Lovci M.T., Ghanem D., Marr H., Arnold J., Gee S., Parra M., Liang T.Y., Stark T.J., Gehman L.T., Hoon S., Massirer K.B., Pratt G.A., Black D.L., Gray J.W., Conboy J.G., Yeo G.W. Rbfox proteins regulate alternative mRNA splicing through evolutionarily conserved RNA bridges. Nat. Struct. Mol. Biol. 2013, 20:1434-1442.
-
(2013)
Nat. Struct. Mol. Biol.
, vol.20
, pp. 1434-1442
-
-
Lovci, M.T.1
Ghanem, D.2
Marr, H.3
Arnold, J.4
Gee, S.5
Parra, M.6
Liang, T.Y.7
Stark, T.J.8
Gehman, L.T.9
Hoon, S.10
Massirer, K.B.11
Pratt, G.A.12
Black, D.L.13
Gray, J.W.14
Conboy, J.G.15
Yeo, G.W.16
-
35
-
-
84881493949
-
Prediction of clustered RNA-binding protein motif sites in the mammalian genome
-
Zhang C., Lee K.Y., Swanson M.S., Darnell R.B. Prediction of clustered RNA-binding protein motif sites in the mammalian genome. Nucleic Acids Res. 2013, 14:6793-6807.
-
(2013)
Nucleic Acids Res.
, vol.14
, pp. 6793-6807
-
-
Zhang, C.1
Lee, K.Y.2
Swanson, M.S.3
Darnell, R.B.4
-
36
-
-
79954597554
-
Identification of MBNL1 and MBNL3 domains required for splicing activation and repression
-
TA
-
Grammatikakis I., Goo Y.H., Echeverria G.V., Cooper TA T.A. Identification of MBNL1 and MBNL3 domains required for splicing activation and repression. Nucleic Acids Res. 2011, 39:2769-2780.
-
(2011)
Nucleic Acids Res.
, vol.39
, pp. 2769-2780
-
-
Grammatikakis, I.1
Goo, Y.H.2
Echeverria, G.V.3
Cooper, T.A.4
-
37
-
-
79958101846
-
Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy
-
Fugier C., Klein A.F., Hammer C., Vassilopoulos S., Ivarsson Y., Toussaint A., Tosch V., Vignaud A., Ferry A., Messaddeq, Kokunai Y., Tsuburaya R., De la Grange P., Dembele D., François V., Precigout G., Boulade-Ladame C., Hummel M.C., Lopez A., Sergeant N., Laquerrière A., Thibault C., Deryckere F., Auboeuf D., Garcia L., Zimmermann P., Udd B., Schoser B., Takahashi M., Nishino I., Bassez G., Laporte J., Furling D., Charlet-Berguerand N. Misregulated alternative splicing of BIN1 is associated with T tubule alterations and muscle weakness in myotonic dystrophy. Nat. Med. 2011, 17:720-725.
-
(2011)
Nat. Med.
, vol.17
, pp. 720-725
-
-
Fugier, C.1
Klein, A.F.2
Hammer, C.3
Vassilopoulos, S.4
Ivarsson, Y.5
Toussaint, A.6
Tosch, V.7
Vignaud, A.8
Ferry, A.9
Messaddeq10
Kokunai, Y.11
Tsuburaya, R.12
De la Grange, P.13
Dembele, D.14
François, V.15
Precigout, G.16
Boulade-Ladame, C.17
Hummel, M.C.18
Lopez, A.19
Sergeant, N.20
Laquerrière, A.21
Thibault, C.22
Deryckere, F.23
Auboeuf, D.24
Garcia, L.25
Zimmermann, P.26
Udd, B.27
Schoser, B.28
Takahashi, M.29
Nishino, I.30
Bassez, G.31
Laporte, J.32
Furling, D.33
Charlet-Berguerand, N.34
more..
-
38
-
-
84893474299
-
Muscleblind-like 1 activates insulin receptor exon 11 inclusion by enhancing U2AF65 binding and splicing of the upstream intron
-
(accepted for publication)
-
Echeverria G.V., Cooper T.A. Muscleblind-like 1 activates insulin receptor exon 11 inclusion by enhancing U2AF65 binding and splicing of the upstream intron. Nucleic Acids Res. 2014, (accepted for publication). 10.1093/nar/gkt1020.
-
(2014)
Nucleic Acids Res.
-
-
Echeverria, G.V.1
Cooper, T.A.2
-
39
-
-
14044252328
-
MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1
-
Dansithong W., Paul S., Comai L., Reddy S. MBNL1 is the primary determinant of focus formation and aberrant insulin receptor splicing in DM1. J. Biol. Chem. 2005, 280:5773-5780.
-
(2005)
J. Biol. Chem.
, vol.280
, pp. 5773-5780
-
-
Dansithong, W.1
Paul, S.2
Comai, L.3
Reddy, S.4
-
40
-
-
84878995293
-
MBNL proteins repress ES-cell-specific alternative splicing and reprogramming
-
Han H., Irimia M., Ross P.J., Sung H.K., Alipanahi B., David L., Golipour A., Gabut M., Michael I.P., Nachman E.N., Wang E., Trcka D., Thompson T., O'Hanlon D., Slobodeniuc V., Barbosa-Morais N.L., Burge C.B., Moffat J., Frey B.J., Nagy A., Ellis J., Wrana J.L., Blencowe B.J. MBNL proteins repress ES-cell-specific alternative splicing and reprogramming. Nature 2013, 498:241-245.
-
(2013)
Nature
, vol.498
, pp. 241-245
-
-
Han, H.1
Irimia, M.2
Ross, P.J.3
Sung, H.K.4
Alipanahi, B.5
David, L.6
Golipour, A.7
Gabut, M.8
Michael, I.P.9
Nachman, E.N.10
Wang, E.11
Trcka, D.12
Thompson, T.13
O'Hanlon, D.14
Slobodeniuc, V.15
Barbosa-Morais, N.L.16
Burge, C.B.17
Moffat, J.18
Frey, B.J.19
Nagy, A.20
Ellis, J.21
Wrana, J.L.22
Blencowe, B.J.23
more..
|