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Volumn 1341, Issue 1, 2015, Pages 176-187

Splicing regulation in spinal muscular atrophy by an RNA structure formed by long-distance interactions

Author keywords

Alternative splicing; Antisense oligonucleotide; RNA structure; Spinal muscular atrophy; Survival motor neuron

Indexed keywords

ANTISENSE OLIGONUCLEOTIDE; CIS ACTING ELEMENT; HETEROGENEOUS NUCLEAR RIBONUCLEOPROTEIN; SURVIVAL MOTOR NEURON PROTEIN 2; HNRNP A1; RNA; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN; SURVIVAL MOTOR NEURON PROTEIN 1;

EID: 84926220418     PISSN: 00778923     EISSN: 17496632     Source Type: Journal    
DOI: 10.1111/nyas.12727     Document Type: Article
Times cited : (48)

References (75)
  • 1
    • 10044274340 scopus 로고    scopus 로고
    • Influence of RNA secondary structure on the pre-mRNA splicing process
    • Buratti, E. & F.E. Baralle, 2004. Influence of RNA secondary structure on the pre-mRNA splicing process. Mol. Cell. Biol. 24: 10505-10514.
    • (2004) Mol. Cell. Biol. , vol.24 , pp. 10505-10514
    • Buratti, E.1    Baralle, F.E.2
  • 2
    • 77649158879 scopus 로고    scopus 로고
    • Role of RNA structure in regulating pre-mRNA splicing
    • Warf, M.B. & J.A. Berglund, 2010. Role of RNA structure in regulating pre-mRNA splicing. Trends Biochem. Sci. 35: 169-178.
    • (2010) Trends Biochem. Sci. , vol.35 , pp. 169-178
    • Warf, M.B.1    Berglund, J.A.2
  • 3
    • 79960918747 scopus 로고    scopus 로고
    • RNA structure and the mechanism of alternative splicing
    • McManus, C.J. & B.R. Graveley, 2011. RNA structure and the mechanism of alternative splicing. Curr. Opin. Genet. Dev. 21: 373-379.
    • (2011) Curr. Opin. Genet. Dev. , vol.21 , pp. 373-379
    • McManus, C.J.1    Graveley, B.R.2
  • 4
    • 84858334551 scopus 로고    scopus 로고
    • Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases
    • 1012e1011
    • Mills, J.D. & M. Janitz, 2012. Alternative splicing of mRNA in the molecular pathology of neurodegenerative diseases. Neurobiol. Aging 33: 1012.e1011.
    • (2012) Neurobiol. Aging , vol.33
    • Mills, J.D.1    Janitz, M.2
  • 5
    • 84868009378 scopus 로고    scopus 로고
    • Genome-wide measurement of RNA folding energies
    • Wan, Y., K. Qu, Z.Q. Ouyang, et al. 2012. Genome-wide measurement of RNA folding energies. Mol. Cell 48: 169-181.
    • (2012) Mol. Cell , vol.48 , pp. 169-181
    • Wan, Y.1    Qu, K.2    Ouyang, Z.Q.3
  • 6
    • 84902830900 scopus 로고    scopus 로고
    • Insights into RNA structure and function from genome-wide studies
    • Mortimer, S.A., M.A. Kidwell & J.A. Doudna, 2014. Insights into RNA structure and function from genome-wide studies. Nat. Rev. Genet. 15: 469-479.
    • (2014) Nat. Rev. Genet. , vol.15 , pp. 469-479
    • Mortimer, S.A.1    Kidwell, M.A.2    Doudna, J.A.3
  • 7
    • 84901596292 scopus 로고    scopus 로고
    • The case for junk DNA
    • Palazzo, A.F. & T.R. Gregory, 2014. The case for junk DNA. PLoS Genet. 10: e1004351.
    • (2014) PLoS Genet , vol.10 , pp. e1004351
    • Palazzo, A.F.1    Gregory, T.R.2
  • 8
    • 84919841732 scopus 로고    scopus 로고
    • Spinal muscular atrophy: journeying from bench to bedside
    • Awano, T., J.K. Kim & U.R. Monani, 2014. Spinal muscular atrophy: journeying from bench to bedside. Neurotherapeutics 11: 786-795.
    • (2014) Neurotherapeutics , vol.11 , pp. 786-795
    • Awano, T.1    Kim, J.K.2    Monani, U.R.3
  • 9
  • 10
    • 84884195895 scopus 로고    scopus 로고
    • Spinal muscular atrophy: an update on therapeutic progress
    • Seo, J., M.D. Howell, N.N. Singh & R.N. Singh, 2013. Spinal muscular atrophy: an update on therapeutic progress. Biochem. Biophys. Acta 1832: 2180-2190.
    • (2013) Biochem. Biophys. Acta , vol.1832 , pp. 2180-2190
    • Seo, J.1    Howell, M.D.2    Singh, N.N.3    Singh, R.N.4
  • 11
    • 84905195828 scopus 로고    scopus 로고
    • Advances in therapeutic development for spinal muscular atrophy
    • Howell, M.D., N.N. Singh & R.N. Singh, 2014. Advances in therapeutic development for spinal muscular atrophy. Future Med. Chem. 6: 1081-1099.
    • (2014) Future Med. Chem. , vol.6 , pp. 1081-1099
    • Howell, M.D.1    Singh, N.N.2    Singh, R.N.3
  • 12
    • 84871718500 scopus 로고    scopus 로고
    • Spinal muscular atrophy: going beyond the motor neuron
    • Hamilton, G. & T.H. Gillingwater, 2013. Spinal muscular atrophy: going beyond the motor neuron. Trends Mol. Med. 19: 40-50.
    • (2013) Trends Mol. Med. , vol.19 , pp. 40-50
    • Hamilton, G.1    Gillingwater, T.H.2
  • 13
    • 84893017238 scopus 로고    scopus 로고
    • Spinal muscular atrophy: from gene discovery to clinical trials
    • Nurputra, D.K. et al. 2013. Spinal muscular atrophy: from gene discovery to clinical trials. Ann. Hum. Genet. 77: 435-463.
    • (2013) Ann. Hum. Genet. , vol.77 , pp. 435-463
    • Nurputra, D.K.1
  • 14
    • 84864277891 scopus 로고    scopus 로고
    • Mouse models of SMA: tools for disease characterization and therapeutic development
    • Bebee, T.W., C.E. Dominguez & D.S. Chandler, 2012. Mouse models of SMA: tools for disease characterization and therapeutic development. Hum. Genet. 131: 1277-1293.
    • (2012) Hum. Genet. , vol.131 , pp. 1277-1293
    • Bebee, T.W.1    Dominguez, C.E.2    Chandler, D.S.3
  • 15
    • 0028797783 scopus 로고
    • Identification and characterization of a spinal muscular atrophy-determining gene
    • Lefebvre, S., L. Bürglen, S. Reboullet, et al. 1995. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80: 155-165.
    • (1995) Cell , vol.80 , pp. 155-165
    • Lefebvre, S.1    Bürglen, L.2    Reboullet, S.3
  • 16
    • 35348915257 scopus 로고    scopus 로고
    • Refined characterization of the expression and stability of the SMN gene products
    • Vitte, J., C. Fassier, F.D. Tiziano, et al. 2007. Refined characterization of the expression and stability of the SMN gene products. Am. J. Pathol. 171: 1269-1280.
    • (2007) Am. J. Pathol. , vol.171 , pp. 1269-1280
    • Vitte, J.1    Fassier, C.2    Tiziano, F.D.3
  • 17
    • 77649114471 scopus 로고    scopus 로고
    • A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity
    • Cho, S. & G. Dreyfuss, 2010. A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity. Genes Dev. 24: 438-442.
    • (2010) Genes Dev. , vol.24 , pp. 438-442
    • Cho, S.1    Dreyfuss, G.2
  • 18
    • 34447525490 scopus 로고    scopus 로고
    • Spinal muscular atrophy and therapeutic prospects
    • Wirth, B., L. Brichta & E. Hahnen, 2006. Spinal muscular atrophy and therapeutic prospects. Prog. Mol. Subcell. Biol. 44: 109-132.
    • (2006) Prog. Mol. Subcell. Biol. , vol.44 , pp. 109-132
    • Wirth, B.1    Brichta, L.2    Hahnen, E.3
  • 20
    • 84862145991 scopus 로고    scopus 로고
    • Spinal muscular atrophy: the role of SMN in axonal mRNA regulation
    • Fallini, C., G.J. Bassell & W. Rossoll, 2012. Spinal muscular atrophy: the role of SMN in axonal mRNA regulation. Brain Res. 1462: 81-92.
    • (2012) Brain Res. , vol.1462 , pp. 81-92
    • Fallini, C.1    Bassell, G.J.2    Rossoll, W.3
  • 21
    • 84886237326 scopus 로고    scopus 로고
    • Solving the puzzle of spinal muscular atrophy: what are the missing pieces?
    • Tiziano, F.D., J. Melki & L.R. Simard, 2013. Solving the puzzle of spinal muscular atrophy: what are the missing pieces? Am. J. Med. Genet. Part A. 161A: 2836-2845.
    • (2013) Am. J. Med. Genet. Part A. , vol.161 , pp. 2836-2845
    • Tiziano, F.D.1    Melki, J.2    Simard, L.R.3
  • 22
    • 0033033434 scopus 로고    scopus 로고
    • A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
    • Lorson, C.L., E. Hahnen, E.J. Androphy & B. Wirth. 1999. A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. U.S.A. 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
  • 23
    • 33847665554 scopus 로고    scopus 로고
    • An intronic element contributes to splicing repression in spinal muscular atrophy
    • Kashima, T., N. Rao & J.L. Manley, 2007. An intronic element contributes to splicing repression in spinal muscular atrophy. Proc. Natl. Acad. Sci. U.S.A. 104: 3426-3431.
    • (2007) Proc. Natl. Acad. Sci. U.S.A. , vol.104 , pp. 3426-3431
    • Kashima, T.1    Rao, N.2    Manley, J.L.3
  • 24
    • 33846925650 scopus 로고    scopus 로고
    • Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes
    • Singh N.N., R.N. Singh & E.J. Androphy, 2007. Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes. Nucleic Acids Res. 35: 371-389.
    • (2007) Nucleic Acids Res. , vol.35 , pp. 371-389
    • Singh, N.N.1    Singh, R.N.2    Androphy, E.J.3
  • 25
    • 3342938228 scopus 로고    scopus 로고
    • In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes
    • Singh, N.N., E.J. Androphy & R.N. Singh, 2004. In vivo selection reveals combinatorial controls that define a critical exon in the spinal muscular atrophy genes. RNA 10: 1291-1305.
    • (2004) RNA , vol.10 , pp. 1291-1305
    • Singh, N.N.1    Androphy, E.J.2    Singh, R.N.3
  • 26
    • 0036544654 scopus 로고    scopus 로고
    • Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1
    • Cartegni, L. & A.R. Krainer, 2002. Disruption of an SF2/ASF-dependent exonic splicing enhancer in SMN2 causes spinal muscular atrophy in the absence of SMN1. Nat. Genet. 30: 377-384.
    • (2002) Nat. Genet. , vol.30 , pp. 377-384
    • Cartegni, L.1    Krainer, A.R.2
  • 27
    • 29244490598 scopus 로고    scopus 로고
    • Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2
    • Cartegni, L., M.L. Hastings, J.A. Calarco, et al. 2006. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am. J. Hum. Genet. 78: 63-77.
    • (2006) Am. J. Hum. Genet. , vol.78 , pp. 63-77
    • Cartegni, L.1    Hastings, M.L.2    Calarco, J.A.3
  • 28
    • 0041665176 scopus 로고    scopus 로고
    • A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy
    • Kashima, T. & J.L. Manley, 2003. A negative element in SMN2 exon 7 inhibits splicing in spinal muscular atrophy. Nat. Genet. 34: 460-463.
    • (2003) Nat. Genet. , vol.34 , pp. 460-463
    • Kashima, T.1    Manley, J.L.2
  • 29
    • 36248987806 scopus 로고    scopus 로고
    • hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing
    • Kashima, T., N. Rao, C.J. David & J.L. Manley, 2007. hnRNP A1 functions with specificity in repression of SMN2 exon 7 splicing. Hum. Mol. Genet. 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
  • 30
    • 77950524790 scopus 로고    scopus 로고
    • The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy
    • Pedrotti, S., P. Bielli, M.P. Paronetto, et al. 2010. The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy. EMBO J. 29: 1235-1247.
    • (2010) EMBO J , vol.29 , pp. 1235-1247
    • Pedrotti, S.1    Bielli, P.2    Paronetto, M.P.3
  • 31
    • 55849144692 scopus 로고    scopus 로고
    • The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene
    • Chen, H.H., J.G. Chang, R.M. Lu, et al. 2008. The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene. Mol. Cell. Biol. 28: 6929-6938.
    • (2008) Mol. Cell. Biol. , vol.28 , pp. 6929-6938
    • Chen, H.H.1    Chang, J.G.2    Lu, R.M.3
  • 32
    • 0034662922 scopus 로고    scopus 로고
    • Htra2-beta1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)
    • Hofmann, Y., C.L. Lorson, S. Stamm, et al. 2000. Htra2-beta1 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. 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
  • 33
    • 79953805056 scopus 로고    scopus 로고
    • Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-β1
    • Clery, A., S. Jayne, N. Benderska, et al. 2011. Molecular basis of purine-rich RNA recognition by the human SR-like protein Tra2-β1. Nat. Struct. Mol. Biol. 18: 443-450.
    • (2011) Nat. Struct. Mol. Biol. , vol.18 , pp. 443-450
    • Clery, A.1    Jayne, S.2    Benderska, N.3
  • 34
    • 84903135927 scopus 로고    scopus 로고
    • Characterization of the RNA recognition mode of hnRNP G extends its role in SMN2 splicing regulation
    • Moursy, A., F.H. Allain & A. Clery, 2014. Characterization of the RNA recognition mode of hnRNP G extends its role in SMN2 splicing regulation. Nucleic Acids Res. 42: 6659-6672.
    • (2014) Nucleic Acids Res , vol.42 , pp. 6659-6672
    • Moursy, A.1    Allain, F.H.2    Clery, A.3
  • 35
    • 84896983805 scopus 로고    scopus 로고
    • hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7
    • Cho, S. et al. 2014. hnRNP M facilitates exon 7 inclusion of SMN2 pre-mRNA in spinal muscular atrophy by targeting an enhancer on exon 7. Biochem. Biophys. Acta 1839: 306-315.
    • (2014) Biochem. Biophys. Acta , vol.1839 , pp. 306-315
    • Cho, S.1
  • 36
    • 84900476398 scopus 로고    scopus 로고
    • PSF contacts exon 7 of SMN2 pre-mRNA to promote exon 7 inclusion
    • Cho, S. et al. 2014. PSF contacts exon 7 of SMN2 pre-mRNA to promote exon 7 inclusion. Biochem. Biophys. Acta 1839: 517-525.
    • (2014) Biochem. Biophys. Acta , vol.1839 , pp. 517-525
    • Cho, S.1
  • 37
    • 69449103716 scopus 로고    scopus 로고
    • A positive modifier of spinal muscular atrophy in the SMN2 gene
    • Prior, T.W., A.R. Krainer, Y. Hua, et al. 2009. A positive modifier of spinal muscular atrophy in the SMN2 gene. Am. J. Hum. Genet. 85: 408-413.
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 408-413
    • Prior, T.W.1    Krainer, A.R.2    Hua, Y.3
  • 38
    • 74049115526 scopus 로고    scopus 로고
    • A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy
    • Vezain, M. et al. 2010. A rare SMN2 variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy. Hum. Mutat. 31: E1110-1125.
    • (2010) Hum. Mutat. , vol.31 , pp. E1110-E1125
    • Vezain, M.1
  • 39
    • 77956105943 scopus 로고    scopus 로고
    • The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor
    • Bernal, S. et al. 2010. The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor. J. Med. Genet. 47: 640-642.
    • (2010) J. Med. Genet. , vol.47 , pp. 640-642
    • Bernal, S.1
  • 40
    • 0037189483 scopus 로고    scopus 로고
    • Identification of a cis-acting element for the regulation of SMN exon 7 splicing
    • Miyajima, H., H. Miyaso, M. Okumura, et al. 2002. Identification of a cis-acting element for the regulation of SMN exon 7 splicing. J. Biol. Chem. 277: 23271-23277.
    • (2002) J. Biol. Chem. , vol.277 , pp. 23271-23277
    • Miyajima, H.1    Miyaso, H.2    Okumura, M.3
  • 41
    • 64549161948 scopus 로고    scopus 로고
    • Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy
    • Baughan, T.D., A. Dickson, E.Y. Osman & C.L. Larson, 2009. Delivery of bifunctional RNAs that target an intronic repressor and increase SMN levels in an animal model of spinal muscular atrophy. Hum. Mol. Genet. 18: 1600-1611.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1600-1611
    • Baughan, T.D.1    Dickson, A.2    Osman, E.Y.3    Larson, C.L.4
  • 42
    • 66949140074 scopus 로고    scopus 로고
    • HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1
    • Irimura S. et al. 2009. HnRNP C1/C2 may regulate exon 7 splicing in the spinal muscular atrophy gene SMN1. Kobe J. Med. Sci. 54: E227-236.
    • (2009) Kobe J. Med. Sci. , vol.54 , pp. E227-E236
    • Irimura, S.1
  • 43
    • 32044445564 scopus 로고    scopus 로고
    • Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron
    • Singh, N.K., N.N. Singh, E.J. Androphy & R.N. Singh, 2006. Splicing of a critical exon of human survival motor neuron is regulated by a unique silencer element located in the last intron. Mol. Cell. Biol. 26: 1333-1346.
    • (2006) Mol. Cell. Biol. , vol.26 , pp. 1333-1346
    • Singh, N.K.1    Singh, N.N.2    Androphy, E.J.3    Singh, R.N.4
  • 44
    • 67650480122 scopus 로고    scopus 로고
    • A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy
    • Singh, N.N, M. Shishimorova, L.C. Cao, et al. 2009. A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy. RNA Biol. 6: 341-350.
    • (2009) RNA Biol. , vol.6 , pp. 341-350
    • Singh, N.N.1    Shishimorova, M.2    Cao, L.C.3
  • 45
    • 77952676947 scopus 로고    scopus 로고
    • An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing
    • Singh, N.N., K. Hollinger, D. Bhattacharya & R.N. Singh, 2010. An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing. RNA 16: 1167-1181.
    • (2010) RNA , vol.16 , pp. 1167-1181
    • Singh, N.N.1    Hollinger, K.2    Bhattacharya, D.3    Singh, R.N.4
  • 46
    • 84884183132 scopus 로고    scopus 로고
    • An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy
    • Singh, N.N., M.N. Lawler, E.W. Ottesen, et al. 2013. An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy. Nucleic Acids Res. 41: 8144-8165.
    • (2013) Nucleic Acids Res. , vol.41 , pp. 8144-8165
    • Singh, N.N.1    Lawler, M.N.2    Ottesen, E.W.3
  • 47
    • 41549168514 scopus 로고    scopus 로고
    • Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice
    • Hua, Y., T.A. Vickers, H.L. Okunola, et al. 2008. Antisense masking of an hnRNP A1/A2 intronic splicing silencer corrects SMN2 splicing in transgenic mice. Am. J. Hum. Genet. 82: 834-848.
    • (2008) Am. J. Hum. Genet. , vol.82 , pp. 834-848
    • Hua, Y.1    Vickers, T.A.2    Okunola, H.L.3
  • 48
    • 0037507250 scopus 로고    scopus 로고
    • An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA
    • Miyaso, H., M. Okumura, S. Kondo, et al. 2003. An intronic splicing enhancer element in survival motor neuron (SMN) pre-mRNA. J. Biol. Chem. 278: 15825-15831.
    • (2003) J. Biol. Chem. , vol.278 , pp. 15825-15831
    • Miyaso, H.1    Okumura, M.2    Kondo, S.3
  • 49
    • 79952253395 scopus 로고    scopus 로고
    • TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy
    • Singh, N.N., J. Seo, E.W. Ottesen, et al. 2011. TIA1 prevents skipping of a critical exon associated with spinal muscular atrophy. Mol. Cell. Biol. 31: 935-954.
    • (2011) Mol. Cell. Biol. , vol.31 , pp. 935-954
    • Singh, N.N.1    Seo, J.2    Ottesen, E.W.3
  • 50
    • 0842289003 scopus 로고    scopus 로고
    • An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy
    • Singh, N.N., E.J. Androphy & R.N. Singh, 2004. An extended inhibitory context causes skipping of exon 7 of SMN2 in spinal muscular atrophy. Biochem. Biophys. Res. Commun. 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
  • 51
    • 34347240934 scopus 로고    scopus 로고
    • Unfolding the mystery of alternative splicing through a unique method of in vivo selection
    • Singh, R.N. 2007. Unfolding the mystery of alternative splicing through a unique method of in vivo selection. Front Biosci. 12: 3263-3272.
    • (2007) Front Biosci , vol.12 , pp. 3263-3272
    • Singh, R.N.1
  • 52
    • 34247388843 scopus 로고    scopus 로고
    • Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon
    • Hua, Y., T.A. Vickers, B.F. Baker, et al. 2007. Enhancement of SMN2 exon 7 inclusion by antisense oligonucleotides targeting the exon. PLoS Biol. 5: e73.
    • (2007) PLoS Biol. , vol.5 , pp. e73
    • Hua, Y.1    Vickers, T.A.2    Baker, B.F.3
  • 53
    • 0035976992 scopus 로고    scopus 로고
    • Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing
    • Lim, S.R. & K.J. Hertel, 2001. Modulation of survival motor neuron pre-mRNA splicing by inhibition of alternative 3′ splice site pairing. J. Biol. Chem. 276: 45476-45483.
    • (2001) J. Biol. Chem. , vol.276 , pp. 45476-45483
    • Lim, S.R.1    Hertel, K.J.2
  • 54
    • 84903778434 scopus 로고    scopus 로고
    • A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy
    • Keil, J.M., J. Seo, M.D. Howell, et al. 2014. A short antisense oligonucleotide ameliorates symptoms of severe mouse models of spinal muscular atrophy. Mol. Ther. Nucleic Acids. 3: e174.
    • (2014) Mol. Ther. Nucleic Acids. , vol.3 , pp. e174
    • Keil, J.M.1    Seo, J.2    Howell, M.D.3
  • 56
    • 0036501065 scopus 로고    scopus 로고
    • SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1
    • Young, P.J., C.J. DiDonato, D. Hu, et al. 2002. SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2β1. Hum. Mol. Genet. 11: 577-587.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 577-587
    • Young, P.J.1    DiDonato, C.J.2    Hu, D.3
  • 57
    • 0037101846 scopus 로고    scopus 로고
    • hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-β1
    • Hofmann, Y. & B. Wirth, 2002. hnRNP-G promotes exon 7 inclusion of survival motor neuron (SMN) via direct interaction with Htra2-β1. Hum. Mol. Genet. 11: 2037-2049.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 2037-2049
    • Hofmann, Y.1    Wirth, B.2
  • 58
    • 57649174592 scopus 로고    scopus 로고
    • TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing
    • Bose, J.K., I.F. Wang, L. Hung, et al. 2008. TDP-43 overexpression enhances exon 7 inclusion during the survival of motor neuron pre-mRNA splicing. J. Biol. Chem. 283: 28852-28859.
    • (2008) J. Biol. Chem. , vol.283 , pp. 28852-28859
    • Bose, J.K.1    Wang, I.F.2    Hung, L.3
  • 59
    • 77953519937 scopus 로고    scopus 로고
    • Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing
    • Mende, Y., M. Jakubik, M. Riessland, et al. 2010. Deficiency of the splicing factor Sfrs10 results in early embryonic lethality in mice and has no impact on full-length SMN/Smn splicing. Hum. Mol. Genet. 19: 2154-2167.
    • (2010) Hum. Mol. Genet. , vol.19 , pp. 2154-2167
    • Mende, Y.1    Jakubik, M.2    Riessland, M.3
  • 60
    • 84874927677 scopus 로고    scopus 로고
    • Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing
    • Klar, J., M. Sobol, A. Melberg, et al. 2013. Welander distal myopathy caused by an ancient founder mutation in TIA1 associated with perturbed splicing. Hum. Mutat. 34: 572-577.
    • (2013) Hum. Mutat. , vol.34 , pp. 572-577
    • Klar, J.1    Sobol, M.2    Melberg, A.3
  • 61
    • 0037121924 scopus 로고    scopus 로고
    • The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5′ splice sites
    • Forch, P., O. Puig, C. Martinez, et al. 2002. The splicing regulator TIA-1 interacts with U1-C to promote U1 snRNP recruitment to 5′ splice sites. EMBO J. 21: 6882-6892.
    • (2002) EMBO J. , vol.21 , pp. 6882-6892
    • Forch, P.1    Puig, O.2    Martinez, C.3
  • 62
    • 0030027575 scopus 로고    scopus 로고
    • Individual RNA recognition motifs of TIA-1 and TIAR have different RNA binding specificities
    • Dember, L.M., N.D. Kim, K.Q. Liu & P. Anderson. 1996. Individual RNA recognition motifs of TIA-1 and TIAR have different RNA binding specificities. J. Biol. Chem. 271: 2783-2788.
    • (1996) J. Biol. Chem. , vol.271 , pp. 2783-2788
    • Dember, L.M.1    Kim, N.D.2    Liu, K.Q.3    Anderson, P.4
  • 63
    • 77957139491 scopus 로고    scopus 로고
    • SHAPE-directed RNA secondary structure prediction
    • Low, J.T. & K.M. Weeks, 2010. SHAPE-directed RNA secondary structure prediction. Methods 52: 150-158.
    • (2010) Methods , vol.52 , pp. 150-158
    • Low, J.T.1    Weeks, K.M.2
  • 64
    • 82055176702 scopus 로고    scopus 로고
    • A two-dimensional mutate-and-map strategy for non-coding RNA structure
    • Kladwang, W., C.C. VanLang, P. Cordero & R. Das, 2011. A two-dimensional mutate-and-map strategy for non-coding RNA structure. Nat. Chem. 3: 954-962.
    • (2011) Nat. Chem. , vol.3 , pp. 954-962
    • Kladwang, W.1    VanLang, C.C.2    Cordero, P.3    Das, R.4
  • 65
    • 84918795268 scopus 로고    scopus 로고
    • Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells
    • Wee, C.D., M.A. Havens, F.M. Jodelka & M.L. Hastings, 2014. Targeting SR Proteins Improves SMN Expression in Spinal Muscular Atrophy Cells. PLoS One 9: e115205.
    • (2014) PLoS One , vol.9 , pp. e115205
    • Wee, C.D.1    Havens, M.A.2    Jodelka, F.M.3    Hastings, M.L.4
  • 66
    • 79960095739 scopus 로고    scopus 로고
    • Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model
    • Singh, N.N. & R.N. Singh, 2011. Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model. RNA Biol. 8: 600-606.
    • (2011) RNA Biol. , vol.8 , pp. 600-606
    • Singh, N.N.1    Singh, R.N.2
  • 67
    • 84906825279 scopus 로고    scopus 로고
    • Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models
    • Osman E.Y., M.R. Miller, K.L. Robbins, et al. 2014. Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models. Hum. Mol. Genet. 23: 4832-4845.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 4832-4845
    • Osman, E.Y.1    Miller, M.R.2    Robbins, K.L.3
  • 68
    • 0035073894 scopus 로고    scopus 로고
    • SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens
    • Rochette, C.F., N. Gilbert & L.R. Simard, 2001. SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. Hum. Genet. 108: 255-266.
    • (2001) Hum. Genet. , vol.108 , pp. 255-266
    • Rochette, C.F.1    Gilbert, N.2    Simard, L.R.3
  • 69
    • 79955866704 scopus 로고    scopus 로고
    • Alpha-synuclein loss in spinal muscular atrophy
    • Acsadi, G., X. Li, K.J. Murphy, et al. 2011. Alpha-synuclein loss in spinal muscular atrophy. J. Mol. Neurosci. 43: 275-283.
    • (2011) J. Mol. Neurosci. , vol.43 , pp. 275-283
    • Acsadi, G.1    Li, X.2    Murphy, K.J.3
  • 70
    • 84891373339 scopus 로고    scopus 로고
    • Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice. Neurobiol
    • Turner, B.J., N. Alfazema, R.K. Sheean, et al. 2014. Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice. Neurobiol. Aging 35: 906-915.
    • (2014) Aging , vol.35 , pp. 906-915
    • Turner, B.J.1    Alfazema, N.2    Sheean, R.K.3
  • 71
    • 84868153116 scopus 로고    scopus 로고
    • FUS-SMN protein interactions link the motor neuron diseases ALS and SMA
    • Yamazaki, T., S. Chen, Y. Yu, et al. 2012. FUS-SMN protein interactions link the motor neuron diseases ALS and SMA. Cell Rep. 2: 799-806.
    • (2012) Cell Rep. , vol.2 , pp. 799-806
    • Yamazaki, T.1    Chen, S.2    Yu, Y.3
  • 72
    • 84869843549 scopus 로고    scopus 로고
    • A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes
    • Singh, N.N., J. Seo, S.J. Rahn & R.N. Singh, 2012. A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes. PLoS One 7: e49595.
    • (2012) PLoS One , vol.7 , pp. e49595
    • Singh, N.N.1    Seo, J.2    Rahn, S.J.3    Singh, R.N.4
  • 73
    • 57549116867 scopus 로고    scopus 로고
    • Oxidative stress as a mediator of life history trade-offs: mechanisms, measurements and interpretation
    • Monaghan, P., N.B. Metcalfe & R. Torres, 2009. Oxidative stress as a mediator of life history trade-offs: mechanisms, measurements and interpretation. Ecol. Lett. 12: 75-92.
    • (2009) Ecol. Lett. , vol.12 , pp. 75-92
    • Monaghan, P.1    Metcalfe, N.B.2    Torres, R.3
  • 74
    • 84925000587 scopus 로고    scopus 로고
    • PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing
    • Taube, J.R., K. Sperle, L. Banser, et al. 2014. PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing. Hum. Mol. Genet. 23: 5464-5478.
    • (2014) Hum. Mol. Genet. , vol.23 , pp. 5464-5478
    • Taube, J.R.1    Sperle, K.2    Banser, L.3
  • 75
    • 33244483620 scopus 로고    scopus 로고
    • Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing
    • Martinez-Contreras, R., J.F. Fisette, F.U. Nasim, et al. 2006. Intronic binding sites for hnRNP A/B and hnRNP F/H proteins stimulate pre-mRNA splicing. PLoS Biol. 4: 172-185.
    • (2006) PLoS Biol. , vol.4 , pp. 172-185
    • Martinez-Contreras, R.1    Fisette, J.F.2    Nasim, F.U.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.