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Volumn 7, Issue , 2016, Pages

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ASPARTATE AMINOTRANSFERASE; CELF2A PROTEIN; DEFLAZACORT; DYSTROPHIN; FOSINOPRIL; ISOPROTEIN; UNCLASSIFIED DRUG; CELF PROTEIN; CELF2 PROTEIN, HUMAN; NERVE PROTEIN;

EID: 84955475566     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms10488     Document Type: Article
Times cited : (18)

References (40)
  • 1
    • 0023718118 scopus 로고
    • An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus
    • Monaco, A. P., Bertelson, C. J., Liechti-Gallati, S., Moser, H. & Kunkel, L. M. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. Genomics 2, 90-95 (1988).
    • (1988) Genomics , vol.2 , pp. 90-95
    • Monaco, A.P.1    Bertelson, C.J.2    Liechti-Gallati, S.3    Moser, H.4    Kunkel, L.M.5
  • 2
    • 38949130017 scopus 로고    scopus 로고
    • Biology of the striated muscle dystrophin-glycoprotein complex
    • Ervasti, J. M. & Sonnemann, K. J. Biology of the striated muscle dystrophin-glycoprotein complex. Int. Rev. Cytol. 265, 191-225 (2008).
    • (2008) Int. Rev. Cytol. , vol.265 , pp. 191-225
    • Ervasti, J.M.1    Sonnemann, K.J.2
  • 3
    • 33749507982 scopus 로고    scopus 로고
    • Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors
    • Minetti, G. C. et al. Functional and morphological recovery of dystrophic muscles in mice treated with deacetylase inhibitors. Nat. Med. 12, 1147-1150 (2006).
    • (2006) Nat. Med. , vol.12 , pp. 1147-1150
    • Minetti, G.C.1
  • 4
    • 58049221125 scopus 로고    scopus 로고
    • HDAC2 blockade by nitric oxide and histone deacetylase inhibitors reveals a common target in Duchenne muscular dystrophy treatment
    • Colussi, C. et al. HDAC2 blockade by nitric oxide and histone deacetylase inhibitors reveals a common target in Duchenne muscular dystrophy treatment. Proc. Natl Acad. Sci. USA 105, 19183-19187 (2008).
    • (2008) Proc. Natl Acad. Sci. USA , vol.105 , pp. 19183-19187
    • Colussi, C.1
  • 5
    • 77957685944 scopus 로고    scopus 로고
    • Micro RNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway
    • Cacchiarelli, D. et al. Micro RNAs involved in molecular circuitries relevant for the Duchenne muscular dystrophy pathogenesis are controlled by the dystrophin/nNOS pathway. Cell. Metab. 12, 341-351 (2010).
    • (2010) Cell. Metab. , vol.12 , pp. 341-351
    • Cacchiarelli, D.1
  • 6
    • 84925879816 scopus 로고    scopus 로고
    • The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations
    • Bladen, C. L. et al. The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations. Hum. Mutat. 36, 395-402 (2015).
    • (2015) Hum. Mutat. , vol.36 , pp. 395-402
    • Bladen, C.L.1
  • 7
    • 0036127393 scopus 로고    scopus 로고
    • Modular flexibility of dystrophin: Implications for gene therapy of Duchenne muscular dystrophy
    • Harper, S. Q. et al. Modular flexibility of dystrophin: implications for gene therapy of Duchenne muscular dystrophy. Nat. Med. 8, 253-261 (2002).
    • (2002) Nat. Med. , vol.8 , pp. 253-261
    • Harper, S.Q.1
  • 8
    • 83755220617 scopus 로고    scopus 로고
    • Dystrophin quantification and clinical correlations in Becker muscular dystrophy: Implications for clinical trials
    • Anthony, K. et al. Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials. Brain 134, 3547-3559 (2011).
    • (2011) Brain , vol.134 , pp. 3547-3559
    • Anthony, K.1
  • 9
    • 0037468459 scopus 로고    scopus 로고
    • Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles
    • Sironi, M. et al. Trans-acting factors may cause dystrophin splicing misregulation in BMD skeletal muscles. FEBS Lett. 537, 30-34 (2003).
    • (2003) FEBS Lett. , vol.537 , pp. 30-34
    • Sironi, M.1
  • 10
    • 77957682833 scopus 로고    scopus 로고
    • Gene therapy for muscle disease
    • Miyagoe-Suzuki, Y. & Takeda, S. Gene therapy for muscle disease. Exp. Cell Res. 316, 3087-3092 (2010).
    • (2010) Exp. Cell Res. , vol.316 , pp. 3087-3092
    • Miyagoe-Suzuki, Y.1    Takeda, S.2
  • 12
    • 84864343619 scopus 로고    scopus 로고
    • Genetic therapeutic approaches for Duchenne muscular dystrophy
    • Foster, H., Popplewell, L. & Dickson, G. Genetic therapeutic approaches for Duchenne muscular dystrophy. Hum. Gene. Ther. 23, 676-687 (2012).
    • (2012) Hum. Gene. Ther. , vol.23 , pp. 676-687
    • Foster, H.1    Popplewell, L.2    Dickson, G.3
  • 13
    • 84878684143 scopus 로고    scopus 로고
    • Splicing therapy for neuromuscular disease
    • Douglas, A. G. L. & Wood, M. J. A. Splicing therapy for neuromuscular disease. Mol. Cell. Neurosci. 56, 169-185 (2013).
    • (2013) Mol. Cell. Neurosci. , vol.56 , pp. 169-185
    • Douglas, A.G.L.1    Wood, M.J.A.2
  • 14
    • 84877872340 scopus 로고    scopus 로고
    • Clinical trials using antisense oligonucleotides in duchenne muscular dystrophy
    • Koo, T. & Wood, M. J. Clinical trials using antisense oligonucleotides in duchenne muscular dystrophy. Hum. Gene. Ther. 24, 479-488 (2013).
    • (2013) Hum. Gene. Ther. , vol.24 , pp. 479-488
    • Koo, T.1    Wood, M.J.2
  • 15
    • 84937547072 scopus 로고    scopus 로고
    • Splicing modulation therapy in the treatment of genetic diseases
    • Arechavala-Gomeza, V., Khoo, B. & Aartsma-Rus, A. Splicing modulation therapy in the treatment of genetic diseases. Appl. Clin. Genet. 7, 245-252 (2014).
    • (2014) Appl. Clin. Genet. , vol.7 , pp. 245-252
    • Arechavala-Gomeza, V.1    Khoo, B.2    Aartsma-Rus, A.3
  • 16
    • 0021260779 scopus 로고
    • Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle
    • Delaporte, C., Dehaupas, M. & Fardeau, M. Comparison between the growth pattern of cell cultures from normal and Duchenne dystrophy muscle. J. Neurol. Sci. 64, 149-160 (1984).
    • (1984) J. Neurol. Sci. , vol.64 , pp. 149-160
    • Delaporte, C.1    Dehaupas, M.2    Fardeau, M.3
  • 17
    • 84893532983 scopus 로고    scopus 로고
    • Gene regulatory networks and transcriptional mechanisms that control myogenesis
    • Buckingham, M. & Rigby, P. W. J. Gene regulatory networks and transcriptional mechanisms that control myogenesis. Dev. Cell 28, 225-238 (2014).
    • (2014) Dev. Cell , vol.28 , pp. 225-238
    • Buckingham, M.1    Rigby, P.W.J.2
  • 18
    • 84880520919 scopus 로고    scopus 로고
    • Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy
    • Twayana, S. et al. Biogenesis and function of non-coding RNAs in muscle differentiation and in Duchenne muscular dystrophy. Biochem. Soc. Trans. 41, 844-849 (2013).
    • (2013) Biochem. Soc. Trans. , vol.41 , pp. 844-849
    • Twayana, S.1
  • 19
    • 79551594779 scopus 로고    scopus 로고
    • MiR-31 modulates dystrophin expression: New implications for Duchenne muscular dystrophy therapy
    • Cacchiarelli, D. et al. miR-31 modulates dystrophin expression: new implications for Duchenne muscular dystrophy therapy. EMBO Rep. 12, 136-141 (2011).
    • (2011) EMBO Rep. , vol.12 , pp. 136-141
    • Cacchiarelli, D.1
  • 20
    • 46249108952 scopus 로고    scopus 로고
    • Long-term benefit of adeno-associated virus/antisensemediated exon skipping in Dystrophic mice
    • Denti, M. A. et al. Long-term benefit of adeno-associated virus/antisensemediated exon skipping in Dystrophic mice. Hum. Gene Ther. 19, 601-608 (2008).
    • (2008) Hum. Gene Ther. , vol.19 , pp. 601-608
    • Denti, M.A.1
  • 21
    • 84869089350 scopus 로고    scopus 로고
    • Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts
    • Cazzella, V. et al. Exon 45 skipping through U1-snRNA antisense molecules recovers the Dys-nNOS pathway and muscle differentiation in human DMD myoblasts. Mol. Ther. 20, 2134-2142 (2012).
    • (2012) Mol. Ther. , vol.20 , pp. 2134-2142
    • Cazzella, V.1
  • 22
    • 0036823504 scopus 로고    scopus 로고
    • Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
    • Aartsma-Rus, A. et al. Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy. Neuromuscul. Disord. 12, S71-S77 (2002).
    • (2002) Neuromuscul. Disord. , vol.12 , pp. S71-S77
    • Aartsma-Rus, A.1
  • 23
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: A web resource to identify exonic splicing enhancers
    • Cartegni, L., Wang, J., Zhu, Z., Zhang, M. Q. & Krainer, A. R. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 31, 3568-3571 (2003).
    • (2003) Nucleic Acids Res. , vol.31 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3    Zhang, M.Q.4    Krainer, A.R.5
  • 24
    • 0037377379 scopus 로고    scopus 로고
    • Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein
    • Gromak, N., Matlin, A. J., Cooper, T. A. & Smith, C. W. Antagonistic regulation of alpha-actinin alternative splicing by CELF proteins and polypyrimidine tract binding protein. RNA 9, 443-456 (2003).
    • (2003) RNA , vol.9 , pp. 443-456
    • Gromak, N.1    Matlin, A.J.2    Cooper, T.A.3    Smith, C.W.4
  • 25
    • 33748529021 scopus 로고    scopus 로고
    • ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I
    • Leroy, O. et al. ETR-3 represses Tau exons 2/3 inclusion, a splicing event abnormally enhanced in myotonic dystrophy type I. J. Neurosci. Res. 84, 852-859 (2006).
    • (2006) J. Neurosci. Res. , vol.84 , pp. 852-859
    • Leroy, O.1
  • 26
    • 0036203307 scopus 로고    scopus 로고
    • Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing
    • Charlet, B. N., Logan, P., Singh, G. & Cooper, T. A. Dynamic antagonism between ETR-3 and PTB regulates cell type-specific alternative splicing. Mol. Cell. 9, 649-658 (2002).
    • (2002) Mol. Cell. , vol.9 , pp. 649-658
    • Charlet, B.N.1    Logan, P.2    Singh, G.3    Cooper, T.A.4
  • 27
    • 0035861728 scopus 로고    scopus 로고
    • Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor
    • Anant, S. et al. Novel role for RNA-binding protein CUGBP2 in mammalian RNA editing. CUGBP2 modulates C to U editing of apolipoprotein B mRNA by interacting with apobec-1 and ACF, the apobec-1 complementation factor. J. Biol. Chem. 276, 47338-47351 (2001).
    • (2001) J. Biol. Chem. , vol.276 , pp. 47338-47351
    • Anant, S.1
  • 28
    • 0035874939 scopus 로고    scopus 로고
    • Genomic organization and isoformspecific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arhythmogenic right ventricular dysplasia
    • Li, D., Bachinski, L. L. & Roberts, R. Genomic organization and isoformspecific tissue expression of human NAPOR (CUGBP2) as a candidate gene for familial arhythmogenic right ventricular dysplasia. Genomics 74, 396-401 (2001).
    • (2001) Genomics , vol.74 , pp. 396-401
    • Li, D.1    Bachinski, L.L.2    Roberts, R.3
  • 29
    • 0035146628 scopus 로고    scopus 로고
    • The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing
    • Ladd, A. N., Charlet, N. & Cooper, T. A. The CELF family of RNA binding proteins is implicated in cell-specific and developmentally regulated alternative splicing. Mol. Cell. Biol. 21, 1285-1296 (2001).
    • (2001) Mol. Cell. Biol. , vol.21 , pp. 1285-1296
    • Ladd, A.N.1    Charlet, N.2    Cooper, T.A.3
  • 30
    • 84860385776 scopus 로고    scopus 로고
    • MATS: A Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data
    • Shen, S. et al. MATS: a Bayesian framework for flexible detection of differential alternative splicing from RNA-Seq data. Nucleic Acids Res. 40, e61-e61 (2012).
    • (2012) Nucleic Acids Res. , vol.40 , pp. e61-e61
    • Shen, S.1
  • 31
    • 0027463834 scopus 로고
    • Exon skipping in the expression of the gene immediately upstream of N-ras (unr/NRU)
    • Boussadia, O., Jacquemin-Sablon, H. & Dautry, F. Exon skipping in the expression of the gene immediately upstream of N-ras (unr/NRU). Biochim. Biophys. Acta 1172, 64-72 (1993).
    • (1993) Biochim. Biophys. Acta , vol.1172 , pp. 64-72
    • Boussadia, O.1    Jacquemin-Sablon, H.2    Dautry, F.3
  • 32
    • 63149091662 scopus 로고    scopus 로고
    • Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome
    • Bian, Y. et al. Tannic acid facilitates expression of the polypyrimidine tract binding protein and alleviates deleterious inclusion of CHRNA1 exon P3A due to an hnRNP H-disrupting mutation in congenital myasthenic syndrome. Hum. Mol. Genet. 18, 1229-1237 (2009).
    • (2009) Hum. Mol. Genet. , vol.18 , pp. 1229-1237
    • Bian, Y.1
  • 33
    • 77956268227 scopus 로고    scopus 로고
    • Exon skipping and Duchenne muscular dystrophy therapy: Selection of the most active U1 snRNA antisense able to induce dystrophin exon 51 skipping
    • Incitti, T. et al. Exon skipping and Duchenne muscular dystrophy therapy: selection of the most active U1 snRNA antisense able to induce dystrophin exon 51 skipping. Mol. Ther. 18, 1675-1682 (2010).
    • (2010) Mol. Ther. , vol.18 , pp. 1675-1682
    • Incitti, T.1
  • 34
    • 0034873099 scopus 로고    scopus 로고
    • Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy
    • Savkur, R. S., Philips, A. V. & Cooper, T. A. Aberrant regulation of insulin receptor alternative splicing is associated with insulin resistance in myotonic dystrophy. Nat. Genet. 29, 40-47 (2001).
    • (2001) Nat. Genet. , vol.29 , pp. 40-47
    • Savkur, R.S.1    Philips, A.V.2    Cooper, T.A.3
  • 35
    • 84902209331 scopus 로고    scopus 로고
    • Dystrophin levels and clinical severity in Becker muscular dystrophy patients
    • van den Bergen, J. C. et al. Dystrophin levels and clinical severity in Becker muscular dystrophy patients. J. Neurol. Neurosurg. Psychiatry 85, 747-753 (2014).
    • (2014) J. Neurol. Neurosurg. Psychiatry , vol.85 , pp. 747-753
    • Van Den-Bergen, J.C.1
  • 36
    • 84857126451 scopus 로고    scopus 로고
    • The effects of low levels of dystrophin on mouse muscle function and pathology
    • van Putten, M. et al. The effects of low levels of dystrophin on mouse muscle function and pathology. PLoS ONE 7, e31937 (2012).
    • (2012) PLoS ONE , vol.7 , pp. e31937
    • Van Putten, M.1
  • 37
    • 85018214528 scopus 로고    scopus 로고
    • How much dystrophin is enough: The physiological consequences of different levels of dystrophin in the mdx mouse
    • Godfrey, C. et al. How much dystrophin is enough: the physiological consequences of different levels of dystrophin in the mdx mouse. Hum. Mol. Genet. 24, 4225-4237 (2015).
    • (2015) Hum. Mol. Genet. , vol.24 , pp. 4225-4237
    • Godfrey, C.1
  • 38
    • 0025017751 scopus 로고
    • The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy
    • Nigro, G., Comi, L. I., Politano, L. & Bain, R. J. The incidence and evolution of cardiomyopathy in Duchenne muscular dystrophy. Int. J. Cardiol. 26, 271-277 (1990).
    • (1990) Int. J. Cardiol. , vol.26 , pp. 271-277
    • Nigro, G.1    Comi, L.I.2    Politano, L.3    Bain, R.J.4
  • 39
    • 84859834957 scopus 로고    scopus 로고
    • U1 snRNA as an effective vector for stable expression of antisense molecules and for the inhibition of the splicing reaction
    • Martone, J., De Angelis, F. G. & Bozzoni, I. U1 snRNA as an effective vector for stable expression of antisense molecules and for the inhibition of the splicing reaction. Methods Mol. Biol. 867, 239-257 (2012).
    • (2012) Methods Mol. Biol. , vol.867 , pp. 239-257
    • Martone, J.1    De Angelis, F.G.2    Bozzoni, I.3
  • 40
    • 0025114455 scopus 로고
    • MyoD converts primary dermal fibroblasts, chondroblasts, smooth muscle, and retinal pigmented epithelial cells into striated mononucleated myoblasts and multinucleated myotubes
    • Choi, J. et al. MyoD converts primary dermal fibroblasts, chondroblasts, smooth muscle, and retinal pigmented epithelial cells into striated mononucleated myoblasts and multinucleated myotubes. Proc. Natl Acad. Sci. USA 87, 7988-7992 (1990).
    • (1990) Proc. Natl Acad. Sci. USA , vol.87 , pp. 7988-7992
    • Choi, J.1


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