ArticleMolecular therapy : the journal of the American Society of Gene Therapy2012
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 103 citations in OpenAlex.
- Longitudinal effect of eteplirsen versus historical control on ambulation in Duchenne muscular dystrophy.Annals of neurology · 2016Trial
- Tadalafil alleviates muscle ischemia in patients with Becker muscular dystrophy.Science translational medicine · 2012Trial
- Long-Term Pulmonary Function in Duchenne Muscular Dystrophy: Comparison of Eteplirsen-Treated Patients to Natural History.Journal of neuromuscular diseasesTrial
- Obestatin Treatment Counteracts Muscle Wasting by Reactivation of Autophagy in Duchenne Muscular Dystrophy.MedComm · 2026Article
- Comparative Transcriptomic Profiling in Patients Affected by Duchenne and Becker Muscular Dystrophies: A Focus on ECM Genes Dysregulation.International journal of molecular sciences · 2025Article
- Duchenne muscular dystrophy gene product expression is associated with survival in head and neck squamous cell carcinoma.Scientific reports · 2025Article
- Targeting gut dysbiosis against inflammation and impaired autophagy in Duchenne muscular dystrophy.EMBO molecular medicine · 2023Article
- Histological Methods to Assess Skeletal Muscle Degeneration and Regeneration in Duchenne Muscular Dystrophy.International journal of molecular sciences · 2022Review
- Optimized lentiviral vector to restore full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy.Molecular therapy. Methods & clinical development · 2022Article
- Current and Future Treatments in Primary Ciliary Dyskinesia.International journal of molecular sciences · 2021Review
- The Duchenne muscular dystrophy gene and cancer.Cellular oncology (Dordrecht, Netherlands) · 2021Review
- The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy.Acta neuropathologica communications · 2021Article
- Exon-Skipping in Duchenne Muscular Dystrophy.Journal of neuromuscular diseases · 2021Review
- Genome Editing-Mediated Utrophin Upregulation in Duchenne Muscular Dystrophy Stem Cells.Molecular therapy. Nucleic acids · 2020Article
- Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells.International journal of molecular sciences · 2020Article
- [Gene-specific treatment approaches in muscle diseases].Der Nervenarzt · 2020Review
- Restoration of Functional Full-Length Dystrophin After Intramuscular Transplantation of Foamy Virus-Transduced Myoblasts.Human gene therapy · 2020Article
- Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres.Scientific reports · 2019Article
- QuantiMus: A Machine Learning-Based Approach for High Precision Analysis of Skeletal Muscle Morphology.Frontiers in physiology · 2019Review
- Shorter Phosphorodiamidate Morpholino Splice-Switching Oligonucleotides May Increase Exon-Skipping Efficacy in DMD.Molecular therapy. Nucleic acids · 2018Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
We previously conducted a proof of principle; dose escalation study in Duchenne muscular dystrophy (DMD) patients using the morpholino splice-switching oligonucleotide AVI-4658 (eteplirsen) that induces skipping of dystrophin exon 51 in patients with relevant deletions, restores the open reading frame and induces dystrophin protein expression after intramuscular (i.m.) injection. We now show that this dystrophin expression was accompanied by an elevated expression of α-sarcoglycan, β-dystroglycan (BDG) and--in relevant cases--neuronal nitric oxide synthase (nNOS) at the sarcolemma, each of which is a component of a different subcomplex of the dystrophin-associated glycoprotein complex (DAPC). As expected, nNOS expression was relocalized to the sarcolemma in Duchenne patients in whom the dystrophin deletion left the nNOS-binding domain (exons 42-45) intact, whereas this did not occur in patients with deletions that involved this domain. Our results indicate that the novel internally deleted and shorter dystrophin induced by skipping exon 51 in patients with amenable deletions, can also restore the dystrophin-associated complex, further suggesting preserved functionality of the newly translated dystrophin.
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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.