Journal article
Multiple exon skipping strategies to by-pass dystrophin mutations
Neuromuscular Disorders, Vol.22(4), pp.297-305
2012
Abstract
Manipulation of dystrophin pre-mRNA processing offers the potential to overcome mutations in the dystrophin gene that would otherwise lead to Duchenne muscular dystrophy. Dystrophin mutations will require the removal of one or more exons to restore the reading frame and in some cases, multiple exon skipping strategies exist to restore dystrophin expression. However, for some small intra-exonic mutations, a third strategy, not applicable to whole exon deletions, may be possible. The removal of only one frame-shifting exon flanking the mutation-carrying exon may restore the reading frame and allow synthesis of a functional dystrophin isoform, providing that no premature termination codons are encountered. For these mutations, the removal of only one exon offers a simpler, cheaper and more feasible alternative approach to the dual exon skipping that would otherwise be considered. We present strategies to by-pass intra-exonic dystrophin mutations that clearly demonstrate the importance of tailoring exon skipping strategies to specific patient mutations.
Details
- Title
- Multiple exon skipping strategies to by-pass dystrophin mutations
- Authors/Creators
- C.F. Adkin (Author/Creator) - The University of Western AustraliaP.L. Meloni (Author/Creator) - The University of Western AustraliaS. Fletcher (Author/Creator) - The University of Western AustraliaA.M. Adams (Author/Creator) - The University of Western AustraliaF. Muntoni (Author/Creator) - Institute of Child HealthB. Wong (Author/Creator) - Cincinnati Children's Hospital Medical CenterS.D. Wilton (Author/Creator) - The University of Western Australia
- Publication Details
- Neuromuscular Disorders, Vol.22(4), pp.297-305
- Publisher
- Elsevier BV
- Identifiers
- 991005540354807891
- Copyright
- © 2012 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