ArticleNature communications2011
Chemical treatment enhances skipping of a mutated exon in the dystrophin gene.
Article in Nature communications, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers.
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Who cites it
48 citing papers in PubMed, 94 citations in OpenAlex.
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- Branchpoints as potential targets of exon-skipping therapies for genetic disorders.Molecular therapy. Nucleic acids · 2023Article
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- Targeting splicing factors for cancer therapy.RNA (New York, N.Y.) · 2023Article
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- Inhibition of NR5A1 Phosphorylation Alleviates a Transcriptional Suppression Defect Caused by a NovelJournal of the Endocrine Society · 2022Article
- Dystrophin Dp71 Subisoforms Localize to the Mitochondria of Human Cells.Life (Basel, Switzerland) · 2021Article
- Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.Nature communications · 2021Article
- Hypoxia-induced alternative splicing in human diseases: the pledge, the turn, and the prestige.Cellular and molecular life sciences : CMLS · 2021Review
- Dual Fluorescence Splicing Reporter Minigene Identifies an Antisense Oligonucleotide to Skip Exon v8 of theInternational journal of molecular sciences · 2020Article
- Dystrophin Dp71ab is monoclonally expressed in human satellite cells and enhances proliferation of myoblast cells.Scientific reports · 2020Article
- Skipping of an exon with a nonsense mutation in the DMD gene is induced by the conversion of a splicing enhancer to a splicing silencer.Human genetics · 2019Article
- Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model.Journal of human genetics · 2019Article
- Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.The Journal of clinical investigation · 2019Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Duchenne muscular dystrophy (DMD) is a fatal muscle wasting disease caused by a loss of the dystrophin protein. Control of dystrophin mRNA splicing to convert severe DMD to a milder phenotype is attracting much attention. Here we report a dystrophinopathy patient who has a point mutation in exon 31 of the dystrophin gene. Although the mutation generates a stop codon, a small amount of internally deleted, but functional, dystrophin protein is produced in the patient cells. An analysis of the mRNA reveals that the mutation promotes exon skipping and restores the open reading frame of dystrophin. Presumably, the mutation disrupts an exonic splicing enhancer and creates an exonic splicing silencer. Therefore, we searched for small chemicals that enhance exon skipping, and found that TG003 promotes the skipping of exon 31 in the endogenous dystrophin gene in a dose-dependent manner and increases the production of the dystrophin protein in the patient's cells.
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