-
1
-
-
0013394889
-
Mechanisms of alternative pre-messenger RNA splicing
-
Black D.L. Mechanisms of alternative pre-messenger RNA splicing. Ann. Rev. Biochem. 2003, 72:291-336.
-
(2003)
Ann. Rev. Biochem.
, vol.72
, pp. 291-336
-
-
Black, D.L.1
-
2
-
-
0032435862
-
Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation
-
Lopez A.J. Alternative splicing of pre-mRNA: developmental consequences and mechanisms of regulation. Annu. Rev. Genet. 1998, 32:279-305.
-
(1998)
Annu. Rev. Genet.
, vol.32
, pp. 279-305
-
-
Lopez, A.J.1
-
3
-
-
0035252410
-
Alternative splicing: increasing diversity in the proteomic world
-
Graveley B.R. Alternative splicing: increasing diversity in the proteomic world. Trends Genet. 2001, 17:100-107.
-
(2001)
Trends Genet.
, vol.17
, pp. 100-107
-
-
Graveley, B.R.1
-
4
-
-
78049446517
-
The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing
-
Shen H., Zheng X., Luecke S., Green M.R. The U2AF35-related protein Urp contacts the 3' splice site to promote U12-type intron splicing and the second step of U2-type intron splicing. Genes Dev. 2010, 24:2389-2394.
-
(2010)
Genes Dev.
, vol.24
, pp. 2389-2394
-
-
Shen, H.1
Zheng, X.2
Luecke, S.3
Green, M.R.4
-
5
-
-
46249107277
-
Distinct activities of the DExD/H-box splicing factor hUAP56 facilitate stepwise assembly of the spliceosome
-
Shen H., Zheng X., Shen J., Zhang L., Zhao R., Green M.R. Distinct activities of the DExD/H-box splicing factor hUAP56 facilitate stepwise assembly of the spliceosome. Genes Dev. 2008, 22:1796-1803.
-
(2008)
Genes Dev.
, vol.22
, pp. 1796-1803
-
-
Shen, H.1
Zheng, X.2
Shen, J.3
Zhang, L.4
Zhao, R.5
Green, M.R.6
-
6
-
-
66849083719
-
UAP56- a key player with surprisingly diverse roles in pre-mRNA splicing and nuclear export
-
Shen H. UAP56- a key player with surprisingly diverse roles in pre-mRNA splicing and nuclear export. BMB Rep. 2009, 42:185-188.
-
(2009)
BMB Rep.
, vol.42
, pp. 185-188
-
-
Shen, H.1
-
7
-
-
0037443035
-
Pre-mRNA splicing and human disease
-
Faustino N.A., Cooper T.A. Pre-mRNA splicing and human disease. Genes Dev. 2003, 17:419-437.
-
(2003)
Genes Dev.
, vol.17
, pp. 419-437
-
-
Faustino, N.A.1
Cooper, T.A.2
-
8
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkotter M., Schwarzer V., Wirth R., Wienker T.F., Wirth B. Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am. J. Hum. Genet. 2002, 70:358-368.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
9
-
-
0018906764
-
Classification of spinal muscular atrophies
-
Pearn J. Classification of spinal muscular atrophies. Lancet 1980, 1:919-922.
-
(1980)
Lancet
, vol.1
, pp. 919-922
-
-
Pearn, J.1
-
10
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Burglen L., Reboullet S., Clermont O., Burlet P., Viollet L., Benichou B., Cruaud C., Millasseau P., Zeviani M., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995, 80:155-165.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, P.9
Zeviani, M.10
-
11
-
-
0030928716
-
The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis
-
Fischer U., Liu Q., Dreyfuss G. The SMN-SIP1 complex has an essential role in spliceosomal snRNP biogenesis. Cell 1997, 90:1023-1029.
-
(1997)
Cell
, vol.90
, pp. 1023-1029
-
-
Fischer, U.1
Liu, Q.2
Dreyfuss, G.3
-
12
-
-
2242443509
-
Essential role for the SMN complex in the specificity of snRNP assembly
-
Pellizzoni L., Yong J., Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science 2002, 298:1775-1779.
-
(2002)
Science
, vol.298
, pp. 1775-1779
-
-
Pellizzoni, L.1
Yong, J.2
Dreyfuss, G.3
-
13
-
-
0036809734
-
SMN-mediated assembly of RNPs: a complex story
-
Meister G., Eggert C., Fischer U. SMN-mediated assembly of RNPs: a complex story. Trends Cell Biol. 2002, 12:472-478.
-
(2002)
Trends Cell Biol.
, vol.12
, pp. 472-478
-
-
Meister, G.1
Eggert, C.2
Fischer, U.3
-
14
-
-
0345599021
-
Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons
-
Rossoll W., Jablonka S., Andreassi C., Kroning A.K., Karle K., Monani U.R., Sendtner M. Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons. J. Cell Biol. 2003, 163:801-812.
-
(2003)
J. Cell Biol.
, vol.163
, pp. 801-812
-
-
Rossoll, W.1
Jablonka, S.2
Andreassi, C.3
Kroning, A.K.4
Karle, K.5
Monani, U.R.6
Sendtner, M.7
-
15
-
-
0035797518
-
Neurotrophin-induced transport of a beta-actin mRNP complex increases beta-actin levels and stimulates growth cone motility
-
Zhang H.L., Eom T., Oleynikov Y., Shenoy S.M., Liebelt D.A., Dictenberg J.B., Singer R.H., Bassell G.J. Neurotrophin-induced transport of a beta-actin mRNP complex increases beta-actin levels and stimulates growth cone motility. Neuron 2001, 31:261-275.
-
(2001)
Neuron
, vol.31
, pp. 261-275
-
-
Zhang, H.L.1
Eom, T.2
Oleynikov, Y.3
Shenoy, S.M.4
Liebelt, D.A.5
Dictenberg, J.B.6
Singer, R.H.7
Bassell, G.J.8
-
16
-
-
29244490598
-
Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
-
Cartegni L., Hastings M.L., Calarco J.A., de Stanchina E., Krainer A.R. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am. J. Hum. Genet. 2006, 78:63-77.
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 63-77
-
-
Cartegni, L.1
Hastings, M.L.2
Calarco, J.A.3
de Stanchina, E.4
Krainer, A.R.5
-
17
-
-
0030985898
-
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number
-
McAndrew P.E., Parsons D.W., Simard L.R., Rochette C., Ray P.N., Mendell J.R., Prior T.W., Burghes A.H. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am. J. Hum. Genet. 1997, 60:1411-1422.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 1411-1422
-
-
McAndrew, P.E.1
Parsons, D.W.2
Simard, L.R.3
Rochette, C.4
Ray, P.N.5
Mendell, J.R.6
Prior, T.W.7
Burghes, A.H.8
-
18
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani U.R., Lorson C.L., Parsons D.W., Prior T.W., Androphy E.J., Burghes A.H., McPherson J.D. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 1999, 8:1177-1183.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
Prior, T.W.4
Androphy, E.J.5
Burghes, A.H.6
McPherson, J.D.7
-
19
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
-
Lorson C.L., Hahnen E., Androphy E.J., Wirth B. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. U. S. A. 1999, 96:6307-6311.
-
(1999)
Proc. Natl. Acad. Sci. U. S. A.
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
Wirth, B.4
-
20
-
-
36248987806
-
HnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
-
Kashima T., Rao N., David C.J., Manley J.L. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum. Mol. Genet. 2007, 16:3149-3159.
-
(2007)
Hum. Mol. Genet.
, vol.16
, pp. 3149-3159
-
-
Kashima, T.1
Rao, N.2
David, C.J.3
Manley, J.L.4
-
21
-
-
0041665176
-
A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
-
Kashima T., Manley J.L. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet. 2003, 34:460-463.
-
(2003)
Nat. Genet.
, vol.34
, pp. 460-463
-
-
Kashima, T.1
Manley, J.L.2
-
22
-
-
0842289003
-
An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy
-
Singh N.N., Androphy E.J., Singh R.N. An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. Biochem. Biophys. Res. Commun. 2004, 315:381-388.
-
(2004)
Biochem. Biophys. Res. Commun.
, vol.315
, pp. 381-388
-
-
Singh, N.N.1
Androphy, E.J.2
Singh, R.N.3
-
23
-
-
0034662922
-
Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
-
Hofmann Y., Lorson C.L., Stamm S., Androphy E.J., Wirth B. Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2). Proc. Natl. Acad. Sci. U. S. A. 2000, 97:9618-9623.
-
(2000)
Proc. Natl. Acad. Sci. U. S. A.
, vol.97
, pp. 9618-9623
-
-
Hofmann, Y.1
Lorson, C.L.2
Stamm, S.3
Androphy, E.J.4
Wirth, B.5
-
24
-
-
0036544654
-
Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
-
Cartegni L., Krainer A.R. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 2002, 30:377-384.
-
(2002)
Nat. Genet.
, vol.30
, pp. 377-384
-
-
Cartegni, L.1
Krainer, A.R.2
-
25
-
-
0036501065
-
SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1
-
Young P.J., DiDonato C.J., Hu D., Kothary R., Androphy E.J., Lorson C.L. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2 beta 1. Hum. Mol. Genet. 2002, 11:577-587.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 577-587
-
-
Young, P.J.1
DiDonato, C.J.2
Hu, D.3
Kothary, R.4
Androphy, E.J.5
Lorson, C.L.6
-
26
-
-
0037101846
-
HnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1
-
Hofmann Y., Wirth B. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-beta1. Hum. Mol. Genet. 2002, 11:2037-2049.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 2037-2049
-
-
Hofmann, Y.1
Wirth, B.2
-
27
-
-
55849144692
-
The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene
-
Chen H.H., Chang J.G., Lu R.M., Peng T.Y., Tarn W.Y. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol. Cell. Biol. 2008, 28:6929-6938.
-
(2008)
Mol. Cell. Biol.
, vol.28
, pp. 6929-6938
-
-
Chen, H.H.1
Chang, J.G.2
Lu, R.M.3
Peng, T.Y.4
Tarn, W.Y.5
-
28
-
-
77950524790
-
The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy
-
Pedrotti S., Bielli P., Paronetto M.P., Ciccosanti F., Fimia G.M., Stamm S., Manley J.L., Sette C. The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. EMBO J. 2010, 29:1235-1247.
-
(2010)
EMBO J.
, vol.29
, pp. 1235-1247
-
-
Pedrotti, S.1
Bielli, P.2
Paronetto, M.P.3
Ciccosanti, F.4
Fimia, G.M.5
Stamm, S.6
Manley, J.L.7
Sette, C.8
-
29
-
-
0027238531
-
The human hnRNP M proteins: identification of a methionine/arginine-rich repeat motif in ribonucleoproteins
-
Datar K.V., Dreyfuss G., Swanson M.S. The human hnRNP M proteins: identification of a methionine/arginine-rich repeat motif in ribonucleoproteins. Nucleic Acids Res. 1993, 21:439-446.
-
(1993)
Nucleic Acids Res.
, vol.21
, pp. 439-446
-
-
Datar, K.V.1
Dreyfuss, G.2
Swanson, M.S.3
-
30
-
-
72149107079
-
HnRNP M interacts with PSF and p54(nrb) and co-localizes within defined nuclear structures
-
Marko M., Leichter M., Patrinou-Georgoula M., Guialis A. hnRNP M interacts with PSF and p54(nrb) and co-localizes within defined nuclear structures. Exp. Cell Res. 2010, 316:390-400.
-
(2010)
Exp. Cell Res.
, vol.316
, pp. 390-400
-
-
Marko, M.1
Leichter, M.2
Patrinou-Georgoula, M.3
Guialis, A.4
-
31
-
-
0036566191
-
Association of the 72/74-kDa proteins, members of the heterogeneous nuclear ribonucleoprotein M group, with the pre-mRNA at early stages of spliceosome assembly
-
Kafasla P., Patrinou-Georgoula M., Lewis J.D., Guialis A. Association of the 72/74-kDa proteins, members of the heterogeneous nuclear ribonucleoprotein M group, with the pre-mRNA at early stages of spliceosome assembly. Biochem. J. 2002, 363:793-799.
-
(2002)
Biochem. J.
, vol.363
, pp. 793-799
-
-
Kafasla, P.1
Patrinou-Georgoula, M.2
Lewis, J.D.3
Guialis, A.4
-
32
-
-
16844374636
-
Hrp59, an hnRNP M protein in Chironomus and Drosophila, binds to exonic splicing enhancers and is required for expression of a subset of mRNAs
-
Kiesler E., Hase M.E., Brodin D., Visa N. Hrp59, an hnRNP M protein in Chironomus and Drosophila, binds to exonic splicing enhancers and is required for expression of a subset of mRNAs. J. Cell Biol. 2005, 168:1013-1025.
-
(2005)
J. Cell Biol.
, vol.168
, pp. 1013-1025
-
-
Kiesler, E.1
Hase, M.E.2
Brodin, D.3
Visa, N.4
-
33
-
-
37549039473
-
Heterogeneous ribonucleoprotein m is a splicing regulatory protein that can enhance or silence splicing of alternatively spliced exons
-
Hovhannisyan R.H., Carstens R.P. Heterogeneous ribonucleoprotein m is a splicing regulatory protein that can enhance or silence splicing of alternatively spliced exons. J. Biol. Chem. 2007, 282:36265-36274.
-
(2007)
J. Biol. Chem.
, vol.282
, pp. 36265-36274
-
-
Hovhannisyan, R.H.1
Carstens, R.P.2
-
34
-
-
0035158371
-
An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA
-
Zhang M.L., Lorson C.L., Androphy E.J., Zhou J. An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA. Gene Ther. 2001, 8:1532-1538.
-
(2001)
Gene Ther.
, vol.8
, pp. 1532-1538
-
-
Zhang, M.L.1
Lorson, C.L.2
Androphy, E.J.3
Zhou, J.4
-
35
-
-
84863327340
-
Validation of trans-acting elements that promote exon 7 skipping of SMN2 in SMN2-GFP stable cell line
-
Cho S., Moon H., Yang X., Zhou J., Kim H.R., Shin M.G., Loh T.J., Zheng X., Shen H. Validation of trans-acting elements that promote exon 7 skipping of SMN2 in SMN2-GFP stable cell line. Biochem. Biophys. Res. Commun. 2012, 423:531-535.
-
(2012)
Biochem. Biophys. Res. Commun.
, vol.423
, pp. 531-535
-
-
Cho, S.1
Moon, H.2
Yang, X.3
Zhou, J.4
Kim, H.R.5
Shin, M.G.6
Loh, T.J.7
Zheng, X.8
Shen, H.9
-
36
-
-
79953805056
-
Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-beta1
-
Clery A., Jayne S., Benderska N., Dominguez C., Stamm S., Allain F.H. Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-beta1. Nat. Struct. Mol. Biol. 2011, 18:443-450.
-
(2011)
Nat. Struct. Mol. Biol.
, vol.18
, pp. 443-450
-
-
Clery, A.1
Jayne, S.2
Benderska, N.3
Dominguez, C.4
Stamm, S.5
Allain, F.H.6
-
37
-
-
0031686467
-
The role of the SMN gene in proximal spinal muscular atrophy
-
Lefebvre S., Burglen L., Frezal J., Munnich A., Melki J. The role of the SMN gene in proximal spinal muscular atrophy. Hum. Mol. Genet. 1998, 7:1531-1536.
-
(1998)
Hum. Mol. Genet.
, vol.7
, pp. 1531-1536
-
-
Lefebvre, S.1
Burglen, L.2
Frezal, J.3
Munnich, A.4
Melki, J.5
-
38
-
-
33745144314
-
Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector
-
Baughan T., Shababi M., Coady T.H., Dickson A.M., Tullis G.E., Lorson C.L. Stimulating full-length SMN2 expression by delivering bifunctional RNAs via a viral vector. Mol. Ther. 2006, 14:54-62.
-
(2006)
Mol. Ther.
, vol.14
, pp. 54-62
-
-
Baughan, T.1
Shababi, M.2
Coady, T.H.3
Dickson, A.M.4
Tullis, G.E.5
Lorson, C.L.6
-
39
-
-
55649102490
-
Development of a single vector system that enhances trans-splicing of SMN2 transcripts
-
Coady T.H., Baughan T.D., Shababi M., Passini M.A., Lorson C.L. Development of a single vector system that enhances trans-splicing of SMN2 transcripts. PLoS One 2008, 3:e3468.
-
(2008)
PLoS One
, vol.3
-
-
Coady, T.H.1
Baughan, T.D.2
Shababi, M.3
Passini, M.A.4
Lorson, C.L.5
-
40
-
-
34547117851
-
Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing
-
Coady T.H., Shababi M., Tullis G.E., Lorson C.L. Restoration of SMN function: delivery of a trans-splicing RNA re-directs SMN2 pre-mRNA splicing. Mol. Ther. 2007, 15:1471-1478.
-
(2007)
Mol. Ther.
, vol.15
, pp. 1471-1478
-
-
Coady, T.H.1
Shababi, M.2
Tullis, G.E.3
Lorson, C.L.4
-
41
-
-
84863497320
-
Targeting RNA-splicing for SMA treatment
-
Zhou J., Zheng X., Shen H. Targeting RNA-splicing for SMA treatment. Mol. Cell 2012, 33:223-228.
-
(2012)
Mol. Cell
, vol.33
, pp. 223-228
-
-
Zhou, J.1
Zheng, X.2
Shen, H.3
-
42
-
-
79960135469
-
Regulatory roles of heterogeneous nuclear ribonucleoprotein M and Nova-1 protein in alternative splicing of dopamine D2 receptor pre-mRNA
-
Park E., Iaccarino C., Lee J., Kwon I., Baik S.M., Kim M., Seong J.Y., Son G.H., Borrelli E., Kim K. Regulatory roles of heterogeneous nuclear ribonucleoprotein M and Nova-1 protein in alternative splicing of dopamine D2 receptor pre-mRNA. J. Biol. Chem. 2011, 286:25301-25308.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 25301-25308
-
-
Park, E.1
Iaccarino, C.2
Lee, J.3
Kwon, I.4
Baik, S.M.5
Kim, M.6
Seong, J.Y.7
Son, G.H.8
Borrelli, E.9
Kim, K.10
-
43
-
-
33845970264
-
The drosophila heterogeneous nuclear ribonucleoprotein M protein, HRP59, regulates alternative splicing and controls the production of its own mRNA
-
Hase M.E., Yalamanchili P., Visa N. The drosophila heterogeneous nuclear ribonucleoprotein M protein, HRP59, regulates alternative splicing and controls the production of its own mRNA. J. Biol. Chem. 2006, 281:39135-39141.
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 39135-39141
-
-
Hase, M.E.1
Yalamanchili, P.2
Visa, N.3
|