Journal article
Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations
Neuromuscular Disorders, Vol.20(12), pp.810-816
2010
Abstract
Antisense oligomer induced exon skipping is showing promise as a therapy to reduce the severity of Duchenne muscular dystrophy. To date, the focus has been on excluding single exons flanking frame-shifting deletions in the dystrophin gene. However, a third of all Duchenne muscular dystrophy causing mutations are more subtle DNA changes. Thirty nine dystrophin exons are potentially frame-shifting and mutations in these will require the targeted removal of exon blocks to generate in-frame transcripts. We report that clustered non-deletion mutations in the dystrophin gene respond differently to different antisense oligomer preparations targeting the same dual exon block, the removal of which bypasses the mutation and restores the open reading-frame. The personalized nature of the responses to antisense oligomer application presents additional challenges to the induction of multi-exon skipping with a single oligomer preparation.
Details
- Title
- Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations
- Authors/Creators
- S. Forrest (Author/Creator) - The University of Western AustraliaP.L. Meloni (Author/Creator) - The University of Western AustraliaF. Muntoni (Author/Creator) - Institute of Child HealthJ. Kim (Author/Creator) - UCL Institute of Child HealthS. Fletcher (Author/Creator) - The University of Western AustraliaS.D. Wilton (Author/Creator) - The University of Western Australia
- Publication Details
- Neuromuscular Disorders, Vol.20(12), pp.810-816
- Publisher
- Elsevier BV
- Identifiers
- 991005542487907891
- Copyright
- 2010 Published by Elsevier B.V
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
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Source: InCites
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- Collaboration types
- Domestic collaboration
- International collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.255 Musculoskeletal Disorders
- 1.255.628 Duchenne Muscular Dystrophy
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior