• 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)
  • 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)
  • mice
  • We now report that systemic administration of AO combinations to wild-type mice can remove dystrophin exons to generate DMD- and BMD- like dystrophin isoforms for functional evaluation. (edu.au)
  • mouse
  • The mdx mouse is a widely used dystrophinopathy model and has a nonsense mutation in dystrophin exon 23. (edu.au)
  • 4. The results provide the first demonstration of experimental delay of muscle necrosis by manipulation of the endocrine system in muscle lacking dystrophin, and provide a novel insight into the way in which a lack of dystrophin interacts with postnatal development to precipitate muscle necrosis in the mdx mouse. (clinsci.org)