• exon
  • Dystrophin gene structure in mildly affected and asymptomatic BMD patients indicates templates for a number of functional dystrophins, however, in-frame deletions in some regions of the dystrophin gene, particularly 5 of exon 55 are rare and the consequences of exon exclusion in this region are not known. (edu.au)
  • The mdx mouse is a widely used dystrophinopathy model and has a nonsense mutation in dystrophin exon 23. (edu.au)
  • AO induced- excision of this exon from the mRNA removes the mutation without disrupting the reading frame, resulting in functional dystrophin expression and amelioration of the phenotype. (edu.au)
  • Furthermore, we show that concurrent administration of prednisolone and AOs improves dystrophin exon skipping and muscle function. (edu.au)
  • The Company's lead Duchenne Muscular Dystrophy (DMD) product candidate, Eteplirsen, is an antisense phosphorodiamidate morpholino oligomer (PMO) therapeutic in Phase III clinical development for the treatment of individuals with DMD having an error in the gene coding for dystrophin that is amenable to skipping exon 51. (breakingfinancenews.com)
  • gene
  • Antisense oligomer (AO)-mediated splicing manipulation can remove specific exons during transcript processing, to by-pass DMD-causing dystrophin gene lesions and generate shorter, partially functional BMD-like dystrophin isoforms, and is showing promise as a therapy for DMD. (edu.au)