ArticleProceedings of the National Academy of Sciences of the United States of America2002
Chimeric snRNA molecules carrying antisense sequences against the splice junctions of exon 51 of the dystrophin pre-mRNA induce exon skipping and restoration of a dystrophin synthesis in Delta 48-50 DMD cells.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00159250 (Restoring Dystrophin Expression in Duchenne Muscular Dystrophy), which is not on this map. Cited by 43 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Restoring Dystrophin Expression in Duchenne Muscular Dystrophy: A Phase I/II Clinical Trial Using AVI-4658
Who cites it
43 citing papers in PubMed, 128 citations in OpenAlex.
- Exploring Therapies for Duchenne Muscular Dystrophy Using Transdifferentiated Patient Fibroblasts.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Exploring exon excision as a therapeutic intervention strategy for the future treatment ofMolecular therapy. Nucleic acids · 2025Article
- Genetic strategies for therapy of Duchenne muscular dystrophy.Molecular therapy. Nucleic acids · 2025Review
- RNAMolecular therapy. Nucleic acids · 2025Article
- Cell-mediated exon skipping normalizes dystrophin expression and muscle function in a new mouse model of Duchenne Muscular Dystrophy.EMBO molecular medicine · 2024Article
- Article
- Exon 44 skipping in Duchenne muscular dystrophy: NS-089/NCNP-02, a dual-targeting antisense oligonucleotide.Molecular therapy. Nucleic acids · 2023Article
- Therapeutic approaches for Duchenne muscular dystrophy.Nature reviews. Drug discovery · 2023Review
- Development of Engineered-U1 snRNA Therapies: Current Status.International journal of molecular sciences · 2023Review
- Exon Skipping Through Chimeric AntisenseNucleic acid therapeutics · 2022Article
- Current Advances in RNA Therapeutics for Human Diseases.International journal of molecular sciences · 2022Review
- Molecular correction of Duchenne muscular dystrophy by splice modulation and gene editing.RNA biology · 2021Review
- Nucleic Acid Therapy for β-Thalassemia.Biologics : targets & therapy · 2020Review
- Exon Skipping in a Dysf-Missense Mutant Mouse Model.Molecular therapy. Nucleic acids · 2018Article
- Impact, Characterization, and Rescue of Pre-mRNA Splicing Mutations in Lysosomal Storage Disorders.Genes · 2018Review
- Enhancement of β-Globin Gene Expression in Thalassemic IVS2-654 Induced Pluripotent Stem Cell-Derived Erythroid Cells by Modified U7 snRNA.Stem cells translational medicine · 2017Article
- Review
- Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.Molecular therapy. Nucleic acids · 2016Article
- Splice-switching antisense oligonucleotides as therapeutic drugs.Nucleic acids research · 2016Review
- Longitudinal MRI quantification of muscle degeneration in Duchenne muscular dystrophy.Annals of clinical and translational neurology · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Deletions and point mutations in the dystrophin gene cause either the severe progressive myopathy Duchenne muscular dystrophy (DMD) or the milder Becker muscular dystrophy, depending on whether the translational reading frame is lost or maintained. Because internal in-frame deletions in the protein produce only mild myopathic symptoms, it should be possible, by preventing the inclusion of specific mutated exon(s) in the mature dystrophin mRNA, to restore a partially corrected phenotype. Such control has been previously accomplished by the use of synthetic oligonucleotides; nevertheless, a significant drawback to this approach is caused by the fact that oligonucleotides would require periodic administrations. To circumvent this problem, we have produced several constructs able to express in vivo, in a stable fashion, large amounts of chimeric RNAs containing antisense sequences. In this paper we show that antisense molecules against exon 51 splice junctions are able to direct skipping of this exon in the human DMD deletion 48-50 and to rescue dystrophin synthesis. We also show that the highest skipping activity was found when antisense constructs against the 5' and 3' splice sites are coexpressed in the same cell.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.