메뉴 건너뛰기




Volumn 14, Issue 6, 2013, Pages 373-378

Therapy for Duchenne muscular dystrophy: Renewed optimism from genetic approaches

Author keywords

[No Author keywords available]

Indexed keywords

ATALUREN; AVI 4568; BIOSTROPHIN; DRISAPERSEN; DYSTROPHIN; ETEPLIRSEN; MESSENGER RNA PRECURSOR; PARVOVIRUS VECTOR; PRO 044; SMT C 1100; UNCLASSIFIED DRUG; UTROPHIN;

EID: 84878016335     PISSN: 14710056     EISSN: 14710064     Source Type: Journal    
DOI: 10.1038/nrg3460     Document Type: Article
Times cited : (186)

References (50)
  • 2
    • 0033814140 scopus 로고    scopus 로고
    • Molecular basis of muscular dystrophies
    • Cohn, R. D. & Campbell, K. P. Molecular basis of muscular dystrophies. Muscle Nerve 23, 1456-1471 (2000).
    • (2000) Muscle Nerve , vol.23 , pp. 1456-1471
    • Cohn, R.D.1    Campbell, K.P.2
  • 3
    • 61649097962 scopus 로고    scopus 로고
    • Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations
    • Aartsma-Rus, A. et al. Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations. Hum. Mutat. 30, 293-299 (2009).
    • (2009) Hum. Mutat , vol.30 , pp. 293-299
    • Aartsma-Rus, A.1
  • 4
    • 84862635331 scopus 로고    scopus 로고
    • Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy
    • Fairclough, R. J., Perkins, K. J. & Davies, K. E. Pharmacologically targeting the primary defect and downstream pathology in Duchenne muscular dystrophy. Curr. Gene Ther. 12, 206-244 (2012).
    • (2012) Curr. Gene Ther , vol.12 , pp. 206-244
    • Fairclough, R.J.1    Perkins, K.J.2    Davies, K.E.3
  • 6
    • 34249890562 scopus 로고    scopus 로고
    • Gene therapy for severe combined immunodeficiency: Are we there yet?
    • DOI 10.1172/JCI30953
    • Cavazzana-Calvo, M. & Fischer, A. Gene therapy for severe combined immunodeficiency: are we there yet? J. Clin. Invest. 117, 1456-1465 (2007). (Pubitemid 46871328)
    • (2007) Journal of Clinical Investigation , vol.117 , Issue.6 , pp. 1456-1465
    • Cavazzana-Calvo, M.1    Fischer, A.2
  • 7
    • 84856950131 scopus 로고    scopus 로고
    • Novel adeno-associated viral vectors for retinal gene therapy
    • Vandenberghe, L. H. & Auricchio, A. Novel adeno-associated viral vectors for retinal gene therapy. Gene Ther. 19, 162-168 (2012).
    • (2012) Gene Ther , vol.19 , pp. 162-168
    • Vandenberghe, L.H.1    Auricchio, A.2
  • 8
    • 84859198455 scopus 로고    scopus 로고
    • Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer
    • Buchlis, G. et al. Factor IX expression in skeletal muscle of a severe hemophilia B patient 10 years after AAV-mediated gene transfer. Blood 119, 3038-3041 (2012).
    • (2012) Blood , vol.119 , pp. 3038-3041
    • Buchlis, G.1
  • 9
    • 79955618736 scopus 로고    scopus 로고
    • Current status of pharmaceutical and genetic therapeutic approaches to treat DMD
    • Pichavant, C. et al. Current status of pharmaceutical and genetic therapeutic approaches to treat DMD. Mol. Ther. 19, 830-840 (2011).
    • (2011) Mol. Ther , vol.19 , pp. 830-840
    • Pichavant, C.1
  • 10
    • 65649111197 scopus 로고    scopus 로고
    • Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy
    • Lai, Y. et al. Dystrophins carrying spectrin-like repeats 16 and 17 anchor nNOS to the sarcolemma and enhance exercise performance in a mouse model of muscular dystrophy. J. Clin. Invest. 119, 624-635 (2009).
    • (2009) J. Clin. Invest , vol.119 , pp. 624-635
    • Lai, Y.1
  • 11
    • 84866762773 scopus 로고    scopus 로고
    • Gene therapy for muscular dystrophy: Lessons learned and path forward
    • Mendell, J. R. et al. Gene therapy for muscular dystrophy: lessons learned and path forward. Neurosci. Lett. 527, 90-99 (2012).
    • (2012) Neurosci. Lett , vol.527 , pp. 90-99
    • Mendell, J.R.1
  • 12
    • 78249253608 scopus 로고    scopus 로고
    • Sustained α-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D
    • Mendell, J. R. et al. Sustained α-sarcoglycan gene expression after gene transfer in limb-girdle muscular dystrophy, type 2D. Ann. Neurol. 68, 629-638 (2010).
    • (2010) Ann. Neurol , vol.68 , pp. 629-638
    • Mendell, J.R.1
  • 13
    • 77957725001 scopus 로고    scopus 로고
    • Dystrophin immunity in Duchenne's muscular dystrophy
    • Mendell, J. R. et al. Dystrophin immunity in Duchenne's muscular dystrophy. N. Engl. J. Med. 363, 1429-1437 (2010).
    • (2010) N. Engl. J. Med , vol.363 , pp. 1429-1437
    • Mendell, J.R.1
  • 14
    • 84864558640 scopus 로고    scopus 로고
    • Successful regional delivery and long-term expression of a dystrophin gene in canine muscular dystrophy: A preclinical model for human therapies
    • Wang, Z. et al. Successful regional delivery and long-term expression of a dystrophin gene in canine muscular dystrophy: a preclinical model for human therapies. Mol. Ther. 20, 1501-1507 (2012).
    • (2012) Mol. Ther , vol.20 , pp. 1501-1507
    • Wang, Z.1
  • 15
    • 84868199631 scopus 로고    scopus 로고
    • Sense from nonsense: Therapies for premature stop codon diseases
    • Bidou, L., Allamand, V., Rousset, J. P. & Namy, O. Sense from nonsense: therapies for premature stop codon diseases. Trends Mol. Med. 18, 679-688 (2012).
    • (2012) Trends Mol. Med , vol.18 , pp. 679-688
    • Bidou, L.1    Allamand, V.2    Rousset, J.P.3    Namy, O.4
  • 17
    • 77956311645 scopus 로고    scopus 로고
    • Read-through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: Aminoglycosides and ataluren (PTC124)
    • Finkel, R. S. Read-through strategies for suppression of nonsense mutations in Duchenne/Becker muscular dystrophy: aminoglycosides and ataluren (PTC124). J. Child Neurol. 25, 1158-1164 (2010).
    • (2010) J. Child Neurol , vol.25 , pp. 1158-1164
    • Finkel, R.S.1
  • 18
    • 77950210043 scopus 로고    scopus 로고
    • The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy
    • McDonald, C. M. et al. The 6-minute walk test as a new outcome measure in Duchenne muscular dystrophy. Muscle Nerve 41, 500-510 (2010).
    • (2010) Muscle Nerve , vol.41 , pp. 500-510
    • McDonald, C.M.1
  • 19
    • 84865794295 scopus 로고    scopus 로고
    • Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy
    • Kayali, R. et al. Read-through compound 13 restores dystrophin expression and improves muscle function in the mdx mouse model for Duchenne muscular dystrophy. Hum. Mol. Genet. 21, 4007-4020 (2012).
    • (2012) Hum. Mol. Genet , vol.21 , pp. 4007-4020
    • Kayali, R.1
  • 21
    • 79960981599 scopus 로고    scopus 로고
    • Targeting RNA to treat neuromuscular disease
    • Muntoni, F. & Wood, M. J. Targeting RNA to treat neuromuscular disease. Nature Rev. Drug Discov. 10, 621-637 (2011).
    • (2011) Nature Rev. Drug Discov , vol.10 , pp. 621-637
    • Muntoni, F.1    Wood, M.J.2
  • 22
    • 69949107887 scopus 로고    scopus 로고
    • Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: A single-blind, placebo-controlled, dose-escalation, proof-of-concept study
    • Kinali, M. et al. Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of-concept study. Lancet Neurol. 8, 918-928 (2009).
    • (2009) Lancet Neurol , vol.8 , pp. 918-928
    • Kinali, M.1
  • 23
    • 37549034298 scopus 로고    scopus 로고
    • Local dystrophin restoration with antisense oligonucleotide PRO051
    • van Deutekom, J. C. et al. Local dystrophin restoration with antisense oligonucleotide PRO051. N. Engl. J. Med. 357, 2677-2686 (2007).
    • (2007) N. Engl. J. Med , vol.357 , pp. 2677-2686
    • Van Deutekom, J.C.1
  • 24
    • 80051690306 scopus 로고    scopus 로고
    • Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: An open-label, phase 2, dose-escalation study
    • Cirak, S. et al. Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study. Lancet 378, 595-605 (2011).
    • (2011) Lancet , vol.378 , pp. 595-605
    • Cirak, S.1
  • 25
    • 79955158683 scopus 로고    scopus 로고
    • Systemic administration of PRO051 in Duchenne's muscular dystrophy
    • Goemans, N. M. et al. Systemic administration of PRO051 in Duchenne's muscular dystrophy. N. Engl. J. Med. 364, 1513-1522 (2011).
    • (2011) N. Engl. J. Med , vol.364 , pp. 1513-1522
    • Goemans, N.M.1
  • 26
    • 84859836034 scopus 로고    scopus 로고
    • Optimizing tissue-specific antisense oligonucleotide-peptide conjugates
    • Betts, C. A., Hammond, S. M., Yin, H. F. & Wood, M. J. Optimizing tissue-specific antisense oligonucleotide-peptide conjugates. Methods Mol. Biol. 867, 415-435 (2012).
    • (2012) Methods Mol. Biol , vol.867 , pp. 415-435
    • Betts, C.A.1    Hammond, S.M.2    Yin, H.F.3    Wood, M.J.4
  • 27
    • 68249118707 scopus 로고    scopus 로고
    • Rational design of antisense oligomers to induce dystrophin exon skipping
    • Mitrpant, C. et al. Rational design of antisense oligomers to induce dystrophin exon skipping. Mol. Ther. 17, 1418-1426 (2009).
    • (2009) Mol. Ther , vol.17 , pp. 1418-1426
    • Mitrpant, C.1
  • 28
    • 84865288612 scopus 로고    scopus 로고
    • Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery
    • Aoki, Y. et al. Bodywide skipping of exons 45-55 in dystrophic mdx52 mice by systemic antisense delivery. Proc. Natl Acad. Sci. USA 109, 13763-13768 (2012).
    • (2012) Proc. Natl Acad. Sci. USA , vol.109 , pp. 13763-13768
    • Aoki, Y.1
  • 29
    • 79955622637 scopus 로고    scopus 로고
    • MiRNAs as serum biomarkers for Duchenne muscular dystrophy
    • Cacchiarelli, D. et al. miRNAs as serum biomarkers for Duchenne muscular dystrophy. EMBO Mol. Med. 3, 258-265 (2011).
    • (2011) EMBO Mol. Med , vol.3 , pp. 258-265
    • Cacchiarelli, D.1
  • 30
    • 84868368129 scopus 로고    scopus 로고
    • Expression analysis in multiple muscle groups and serum reveals complexity in the microRNA transcriptome of the mdx mouse with implications for therapy
    • Roberts, T. C. et al. Expression analysis in multiple muscle groups and serum reveals complexity in the microRNA transcriptome of the mdx mouse with implications for therapy. Mol. Ther. Nucleic Acids 1, e39 (2012).
    • (2012) Mol. Ther. Nucleic Acids , vol.1
    • Roberts, T.C.1
  • 31
    • 79960898220 scopus 로고    scopus 로고
    • Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD)
    • Nadarajah, V. D. et al. Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring disease progression in Duchenne muscular dystrophy (DMD). Neuromuscul. Disord. 21, 569-578 (2011).
    • (2011) Neuromuscul. Disord , vol.21 , pp. 569-578
    • Nadarajah, V.D.1
  • 32
    • 80055072546 scopus 로고    scopus 로고
    • Antitumorigenic potential of STAT3 alternative splicing modulation
    • Zammarchi, F. et al. Antitumorigenic potential of STAT3 alternative splicing modulation. Proc. Natl Acad. Sci. USA 108, 17779-17784 (2011).
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 17779-17784
    • Zammarchi, F.1
  • 33
    • 0038725634 scopus 로고    scopus 로고
    • Pharmacological strategies for muscular dystrophy
    • DOI 10.1038/nrd1085
    • Khurana, T. S. & Davies, K. E. Pharmacological strategies for muscular dystrophy. Nature Rev. Drug Discov. 2, 379-390 (2003). (Pubitemid 37361708)
    • (2003) Nature Reviews Drug Discovery , vol.2 , Issue.5 , pp. 379-390
    • Khurana, T.S.1    Davies, K.E.2
  • 34
    • 33644975603 scopus 로고    scopus 로고
    • Utrophin upregulation for treating Duchenne or Becker muscular dystrophy: How close are we?
    • Miura, P. & Jasmin, B. J. Utrophin upregulation for treating Duchenne or Becker muscular dystrophy: how close are we? Trends Mol. Med. 12, 122-129 (2006).
    • (2006) Trends Mol. Med , vol.12 , pp. 122-129
    • Miura, P.1    Jasmin, B.J.2
  • 35
    • 77953550591 scopus 로고    scopus 로고
    • Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin
    • Li, D. et al. Sarcolemmal nNOS anchoring reveals a qualitative difference between dystrophin and utrophin. J. Cell Sci. 123, 2008-2013 (2010).
    • (2010) J. Cell Sci , vol.123 , pp. 2008-2013
    • Li, D.1
  • 36
    • 84878016575 scopus 로고    scopus 로고
    • Nitric oxide signaling pathway in Duchenne muscular dystrophy mice: Upregulation of l-arginine transporters
    • Ramachandran, J. et al. Nitric oxide signaling pathway in Duchenne muscular dystrophy mice: upregulation of l-arginine transporters. Biochem. J. (2012).
    • (2012) Biochem. J.
    • Ramachandran, J.1
  • 38
    • 33745183090 scopus 로고    scopus 로고
    • Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy
    • DOI 10.1093/hmg/ddl083
    • Kleopa, K. A., Drousiotou, A., Mavrikiou, E., Ormiston, A. & Kyriakides, T. Naturally occurring utrophin correlates with disease severity in Duchenne muscular dystrophy. Hum. Mol. Genet. 15, 1623-1628 (2006). (Pubitemid 43904828)
    • (2006) Human Molecular Genetics , vol.15 , Issue.10 , pp. 1623-1628
    • Kleopa, K.A.1    Drousiotou, A.2    Mavrikiou, E.3    Ormiston, A.4    Kyriakides, T.5
  • 39
    • 66349121942 scopus 로고    scopus 로고
    • Functional substitution by TAT-utrophin in dystrophin-deficient mice
    • Sonnemann, K. J. et al. Functional substitution by TAT-utrophin in dystrophin-deficient mice. PLoS Med. 6, e1000083 (2009).
    • (2009) PLoS Med , vol.6
    • Sonnemann, K.J.1
  • 40
    • 39449128867 scopus 로고    scopus 로고
    • Modulation of utrophin A mRNA stability in fast versus slow muscles via an AU-rich element and calcineurin signaling
    • DOI 10.1093/nar/gkm1107
    • Chakkalakal, J. V., Miura, P., Belanger, G., Michel, R. N. & Jasmin, B. J. Modulation of utrophin A mRNA stability in fast versus slow muscles via an AU-rich element and calcineurin signaling. Nucleic Acids Res. 36, 826-838 (2008). (Pubitemid 351267239)
    • (2008) Nucleic Acids Research , vol.36 , Issue.3 , pp. 826-838
    • Chakkalakal, J.V.1    Miura, P.2    Belanger, G.3    Michel, R.N.4    Jasmin, B.J.5
  • 41
    • 84875699165 scopus 로고    scopus 로고
    • A cell-based high-throughput screening assay for posttranscriptional utrophin upregulation
    • Moorwood, C., Soni, N., Patel, G., Wilton, S. D. & Khurana, T. S. A cell-based high-throughput screening assay for posttranscriptional utrophin upregulation. J. Biomol. Screen. 18, 400-406 (2012).
    • (2012) J. Biomol. Screen , vol.18 , pp. 400-406
    • Moorwood, C.1    Soni, N.2    Patel, G.3    Wilton, S.D.4    Khurana, T.S.5
  • 42
    • 79955867741 scopus 로고    scopus 로고
    • Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse
    • Tinsley, J. M. et al. Daily treatment with SMTC1100, a novel small molecule utrophin upregulator, dramatically reduces the dystrophic symptoms in the mdx mouse. PLoS ONE 6, e19189 (2011).
    • (2011) PLoS ONE , vol.6
    • Tinsley, J.M.1
  • 43
    • 79551667507 scopus 로고    scopus 로고
    • Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in mdx mice
    • Amenta, A. R. et al. Biglycan recruits utrophin to the sarcolemma and counters dystrophic pathology in mdx mice. Proc. Natl Acad. Sci. USA 108, 762-767 (2011).
    • (2011) Proc. Natl Acad. Sci. USA , vol.108 , pp. 762-767
    • Amenta, A.R.1
  • 47
    • 84878756586 scopus 로고    scopus 로고
    • Low dystrophin levels increase muscle survival and improve muscle pathology and function in dystrophin/utrophin double-knock-out mice
    • Mar doi: 10. 1096/fj.12-224170)
    • van Putten, M. et al. Low dystrophin levels increase muscle survival and improve muscle pathology and function in dystrophin/utrophin double-knock-out mice. FASEB J. 4 Mar 2013 (doi: 10. 1096/fj. 12-224170).
    • (2013) FASEB J , vol.4
    • Van Putten, M.1
  • 48
    • 33845966411 scopus 로고    scopus 로고
    • Medicinal chemistry of fetal hemoglobin inducers for treatment of β-thalassemia
    • DOI 10.2174/092986707779313318
    • Gambari, R. & Fibach, E. Medicinal chemistry of fetal hemoglobin inducers for treatment of β-thalassemia. Curr. Med. Chem. 14, 199-212 (2007). (Pubitemid 46043915)
    • (2007) Current Medicinal Chemistry , vol.14 , Issue.2 , pp. 199-212
    • Gambari, R.1    Fibach, E.2
  • 50
    • 65349121206 scopus 로고    scopus 로고
    • In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping
    • Heemskerk, H. A. et al. In vivo comparison of 2'-O-methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping. J. Gene Med. 11, 257-266 (2009).
    • (2009) J. Gene Med , vol.11 , pp. 257-266
    • Heemskerk, H.A.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.