Adkin, CF;
Meloni, PL;
Fletcher, S;
Adams, AM;
Muntoni, F;
Wong, B;
Wilton, SD;
(2012)
Multiple exon skipping strategies to by-pass dystrophin mutations.
Neuromuscular Disorders
, 22
(4)
297 - 305.
10.1016/j.nmd.2011.10.007.
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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.
| Type: | Article |
|---|---|
| Title: | Multiple exon skipping strategies to by-pass dystrophin mutations. |
| Location: | England |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1016/j.nmd.2011.10.007 |
| Publisher version: | http://dx.doi.org/10.1016/j.nmd.2011.10.007 |
| Language: | English |
| Additional information: | This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. PMCID: PMC3488593 |
| Keywords: | Cells, Cultured, Dystrophin, Exons, Genetic Therapy, Humans, Muscular Dystrophy, Duchenne, Mutation, Oligonucleotides, Antisense, Reading Frames, Sequence Deletion |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1335374 |
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