SEARCH

SEARCH BY CITATION

References

  • 1
    Blake DJ, Weir A, Newey SE, et al. Function and genetics of dystrophin and dystrophin-related proteins in muscle. Physiol Rev 2002; 82: 291329.
  • 2
    Emery AE. Muscular dystrophy into the new millennium. Neuromuscul Disord 2002; 12: 343349.
  • 3
    Emery AE. The muscular dystrophies. Lancet 2002; 359: 687695.
  • 4
    Yan J, Feng J, Buzin CH, et al. Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD). Hum Mutat 2004; 23: 203204.
  • 5
    White SJ, Aartsma-Rus A, Flanigan KM, et al. Duplications in the DMD gene. Hum Mutat 2006; 27: 938945.
  • 6
    Deburgrave N, Daoud F, Llense S, et al. Protein- and mRNA-based phenotype-genotype correlations in DMD/BMD with point mutations and molecular basis for BMD with nonsense and frameshift mutations in the DMD gene. Hum Mutat 2007; 28: 183195.
  • 7
    Ashton EJ, Yau SC, Deans ZC, et al. Simultaneous mutation scanning for gross deletions, duplications and point mutations in the DMD gene. Eur J Hum Genet 2008; 16: 5361.
  • 8
    Tuffery-Giraud S, Chambert S, Demaille J, et al. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 1999; 14: 359368.
  • 9
    Bosone I, Bortolotto S, Mongini T, et al. Late onset and very mild course of Xp21 Becker type muscular dystrophy. Clin Neuropathol 2001; 20: 196199.
  • 10
    Heald A, Anderson LV, Bushby KM, et al. Becker muscular dystrophy with onset after 60 years. Neurology 1994; 44: 23882390.
  • 11
    Jennekens FG, ten Kate LP, de Visser M, et al. Diagnostic criteria for Duchenne and Becker muscular dystrophy and myotonic dystrophy. Neuromuscul Disord 1991; 1: 389391.
  • 12
    Prior TW, Bartolo C, Papp AC, et al. Nonsense mutations in a Becker muscular dystrophy and an intermediate patient. Hum Mutat 1996; 7: 7275.
  • 13
    Dunckley MG, Manoharan M, Villiet P, et al. Modification of splicing in the dystrophin gene in cultured Mdx muscle cells by antisense oligoribonucleotides. Hum Mol Genet 1998; 7: 10831090.
  • 14
    Wilton SD, Lloyd F, Carville K, et al. Specific removal of the nonsense mutation from the mdx dystrophin mRNA using antisense oligonucleotides. Neuromuscul Disord 1999; 9: 330338.
  • 15
    Graham IR, Hill VJ, Manoharan M, et al. Towards a therapeutic inhibition of dystrophin exon 23 splicing in mdx mouse muscle induced by antisense oligoribonucleotides (splicomers): target sequence optimisation using oligonucleotide arrays. J Gene Med 2004; 6: 11491158.
  • 16
    Sirsi SR, Williams JH, Lutz GJ. Poly (ethylene imine)-poly (ethylene glycol) copolymers facilitate efficient delivery of antisense oligonucleotides to nuclei of mature muscle cells of mdx mice. Hum Gene Ther 2005; 16: 13071317.
  • 17
    Gebski BL, Mann CJ, Fletcher S, et al. Morpholino antisense oligonucleotide induced dystrophin exon 23 skipping in mdx mouse muscle. Hum Mol Genet 2003; 12: 18011811.
  • 18
    Mann CJ, Honeyman K, McClorey G, et al. Improved antisense oligonucleotide induced exon skipping in the mdx mouse model of muscular dystrophy. J Gene Med 2002; 4: 644654.
  • 19
    Alter J, Lou F, Rabinowitz A, et al. Systemic delivery of morpholino oligonucleotide restores dystrophin expression bodywide and improves dystrophic pathology. Nat Med 2006; 12: 175177.
  • 20
    Fletcher S, Honeyman K, Fall AM, et al. Morpholino oligomer-mediated exon skipping averts the onset of dystrophic pathology in the mdx mouse. Mol Ther 2007; 15: 15871592.
  • 21
    Fletcher S, Honeyman K, Fall AM, et al. Dystrophin expression in the mdx mouse after localised and systemic administration of a morpholino antisense oligonucleotide. J Gene Med 2006; 8: 207216.
  • 22
    Mitrpant C, Fletcher S, Wilton SD. Personalised genetic intervention for Duchenne muscular dystrophy: Antisense oligomers and exon skipping. Curr Mol Pharm 2008.
  • 23
    Foster K, Foster H, Dickson JG. Gene therapy progress and prospects: Duchenne muscular dystrophy. Gene Ther 2006; 13: 16771685.
  • 24
    Odom GL, Gregorevic P, Chamberlain JS. Viral-mediated gene therapy for the muscular dystrophies: successes, limitations and recent advances. Biochim Biophys Acta 2007; 1772: 243262.
  • 25
    Welch EM, Barton ER, Zhuo J, et al. PTC124 targets genetic disorders caused by nonsense mutations. Nature 2007; 447: 8791.
  • 26
    Chapman VM, Miller DR, Armstrong D, et al. Recovery of induced mutations for X chromosome-linked muscular dystrophy in mice. Proc Natl Acad Sci USA 1989; 86: 12921296.
  • 27
    Deas TS, Binduga-Gajewska I, Tilgner M, et al. Inhibition of flavivirus infections by antisense oligomers specifically suppressing viral translation and RNA replication. J Virol 2005; 79: 45994609.
  • 28
    Yuan J, Stein DA, Lim T, et al. Inhibition of coxsackievirus B3 in cell cultures and in mice by peptide-conjugated morpholino oligomers targeting the internal ribosome entry site. J Virol 2006; 80: 1151011519.
  • 29
    Errington SJ, Mann CJ, Fletcher S, et al. Target selection for antisense oligonucleotide induced exon skipping in the dystrophin gene. J Gene Med 2003; 5: 518527.
  • 30
    Rando TA, Blau HM. Primary mouse myoblast purification, characterization, and transplantation for cell-mediated gene therapy. J Cell Biol 1994; 125: 12751287.
  • 31
    Wilton SD, Lim L, Dye D, et al. Bandstab: a PCR-based alternative to cloning PCR products. Biotechniques 1997; 22: 642645.
  • 32
    Cartegni L, Wang J, Zhu Z, et al. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31: 35683571.
  • 33
    Smith PJ, Zhang C, Wang J, et al. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet 2006; 15: 24902508.
  • 34
    Morgan JE, Beauchamp JR, Pagel CN, et al. Myogenic cell lines derived from transgenic mice carrying a thermolabile T antigen: a model system for the derivation of tissue-specific and mutation-specific cell lines. Dev Biol 1994; 162: 486498.
  • 35
    McClorey G, Moulton HM, Iversen PL, et al. Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. Gene Ther 2006; 13: 13731381.
  • 36
    Mann CJ, Honeyman K, Cheng AJ, et al. Antisense-induced exon skipping and synthesis of dystrophin in the mdx mouse. Proc Natl Acad Sci USA 2001; 98: 4247.
  • 37
    Lu QL, Mann CJ, Lou F, et al. Functional amounts of dystrophin produced by skipping the mutated exon in the mdx dystrophic mouse. Nat Med 2003; 9: 10091014.
  • 38
    Den Dunnen JT, Grootscholten PM, Bakker E, et al. Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. Am J Hum Genet 1989; 45: 835847.
  • 39
    Wilton SD, Fall AM, Harding PL, et al. Antisense oligonucleotide-induced exon skipping across the human dystrophin gene transcript. Mol Ther 2007; 15: 12881296.
  • 40
    Arechavala-Gomeza V, Graham IR, Popplewell LJ, et al. Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle. Hum Gene Ther 2007; 18: 798810.
  • 41
    Harding PL, Fall AM, Honeyman K, et al. The influence of antisense oligonucleotide length on dystrophin exon skipping. Mol Ther 2007; 15: 157166.
  • 42
    McKay RA, Miraglia LJ, Cummins LL, et al. Characterization of a potent and specific class of antisense oligonucleotide inhibitor of human protein kinase C-alpha expression. J Biol Chem 1999; 274: 17151722.
  • 43
    Gebski BL, Errington SJ, Johnsen RD, et al. Terminal antisense oligonucleotide modifications can enhance induced exon skipping. Neuromuscul Disord 2005; 15: 622629.
  • 44
    McClorey G, Fall AM, Moulton HM, et al. Induced exon skipping in human muscle explants. Neuromusc Disorders 2006; 16: 583590.
  • 45
    Fall AM, Johnsen R, Honeyman K, et al. Induction of revertant fibres in the mdx mouse using antisense oligonucleotides. Genet Vaccines Ther 2006; 4: 3.
  • 46
    Adams AM, Harding PL, Iversen PL, et al. Antisense oligonucleotide induced exon skipping and the dystrophin gene transcript: cocktails and chemistries. BMC Mol Biol 2007; 8: 57.