ArticleNeuromuscular disorders : NMD2012
Multiple exon skipping strategies to by-pass dystrophin mutations.
Article in Neuromuscular disorders : NMD, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- DOCKopathies: A systematic review of the clinical pathologies associated with human DOCK pathogenic variants.Human mutation · 2022Pooled it
- Review
- Review
- The potential of antisense oligonucleotide therapies for inherited childhood lung diseases.Molecular and cellular pediatrics · 2018Review
- Detection of the mutation may guide treatment of heart and muscle in Duchenne muscular dystrophy.International medical case reports journal · 2016Article
- Exon 32 Skipping of Dysferlin Rescues Membrane Repair in Patients' Cells.Journal of neuromuscular diseases · 2015Article
- Human RNAi pathway: crosstalk with organelles and cells.Functional & integrative genomics · 2014Review
- Ongoing therapeutic trials and outcome measures for Duchenne muscular dystrophy.Cellular and molecular life sciences : CMLS · 2013Review
- Antisense suppression of donor splice site mutations in the dystrophin gene transcript.Molecular genetics & genomic medicine · 2013Article
Corrections and comments
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Authors and funding
7 authors.
Funding
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.
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