ArticlePloS one2010
Exon exchange approach to repair Duchenne dystrophin transcripts.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 30 citations in OpenAlex.
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- The development and improvement of ribonucleic acid therapy strategies.Molecular therapy. Nucleic acids · 2021Review
- Therapeutic applications of trans-splicing.British medical bulletin · 2020Article
- Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.Molecular therapy. Nucleic acids · 2018Article
- RNA Trans-Splicing Modulation via Antisense Molecule Interference.International journal of molecular sciences · 2018Article
- Gene Therapy via Trans-Splicing for LMNA-Related Congenital Muscular Dystrophy.Molecular therapy. Nucleic acids · 2018Article
- Evaluation of MYBPC3 trans-Splicing and Gene Replacement as Therapeutic Options in Human iPSC-Derived Cardiomyocytes.Molecular therapy. Nucleic acids · 2017Article
- Designing Efficient Double RNA trans-Splicing Molecules for Targeted RNA Repair.International journal of molecular sciences · 2016Article
- Reprogramming the Dynamin 2 mRNA by Spliceosome-mediated RNA Trans-splicing.Molecular therapy. Nucleic acids · 2016Article
- mRNA trans-splicing in gene therapy for genetic diseases.Wiley interdisciplinary reviews. RNA · 2016Review
- Repair of rhodopsin mRNA by spliceosome-mediated RNA trans-splicing: a new approach for autosomal dominant retinitis pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2015Article
- Correction of the Middle Eastern M712T mutation causing GNE myopathy by trans-splicing.Neuromolecular medicine · 2014Article
- Cis-splicing and translation of the pre-trans-splicing molecule combine with efficiency in spliceosome-mediated RNA trans-splicing.Molecular therapy : the journal of the American Society of Gene Therapy · 2014Article
- Considerations for a Successful RNA Trans-splicing Repair of Genetic Disorders.Molecular therapy. Nucleic acids · 2014Article
- MYBPC3 in hypertrophic cardiomyopathy: from mutation identification to RNA-based correction.Pflugers Archiv : European journal of physiology · 2014Review
- Dystrophin rescue by trans-splicing: a strategy for DMD genotypes not eligible for exon skipping approaches.Nucleic acids research · 2013Article
- Repair of Mybpc3 mRNA by 5'-trans-splicing in a Mouse Model of Hypertrophic Cardiomyopathy.Molecular therapy. Nucleic acids · 2013Article
- Exon skipping as a therapeutic strategy applied to an RYR1 mutation with pseudo-exon inclusion causing a severe core myopathy.Human gene therapy · 2013Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundTrans-splicing strategies for mRNA repair involve engineered transcripts designed to anneal target mRNAs in order to interfere with their natural splicing, giving rise to mRNA chimeras where endogenous mutated exons have been replaced by exogenous replacement sequences. A number of trans-splicing molecules have already been proposed for replacing either the 5' or the 3' part of transcripts to be repaired. Here, we show the feasibility of RNA surgery by using a double trans-splicing approach allowing the specific substitution of a given mutated exon. METHODOLOGY/PRINCIPAL
findingsAs a target we used a minigene encoding a fragment of the mdx dystrophin gene enclosing the mutated exon (exon 23). This minigene was cotransfected with a variety of exon exchange constructions, differing in their annealing domains. We obtained accurate and efficient replacement of exon 23 in the mRNA target. Adding up a downstream intronic splice enhancer DISE in the exon exchange molecule enhanced drastically its efficiency up to 25-45% of repair depending on the construction in use. CONCLUSIONS/SIGNIFICANCE: These results demonstrate the possibility to fix up mutated exons, refurbish deleted exons and introduce protein motifs, while keeping natural untranslated sequences, which are essential for mRNA stability and translation regulation. Conversely to the well-known exon skipping, exon exchange has the advantage to be compatible with almost any type of mutations and more generally to a wide range of genetic conditions. In particular, it allows addressing disorders caused by dominant mutations.
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