ArticleHuman molecular genetics2012
Rescue of severely affected dystrophin/utrophin-deficient mice through scAAV-U7snRNA-mediated exon skipping.
Article in Human molecular genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 101 citations in OpenAlex.
- Ineffective behavioral rescue despite partial brain Dp427 restoration by AAV9-U7-mediated exon 51 skipping inMolecular therapy. Nucleic acids · 2025Article
- Long-Term Dystrophin Replacement Therapy in Duchenne Muscular Dystrophy Causes Cardiac Inflammation.JACC. Basic to translational science · 2025Article
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- Antisense Oligonucleotides in Dyslipidemia Management: A Review of Clinical Trials.High blood pressure & cardiovascular prevention : the official journal of the Italian Society of Hypertension · 2025Review
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- EV-mediated promotion of myogenic differentiation is dependent on dose, collection medium, and isolation method.Molecular therapy. Nucleic acids · 2023Article
- Partial restoration of brain dystrophin by tricyclo-DNA antisense oligonucleotides alleviates emotional deficits inMolecular therapy. Nucleic acids · 2023Article
- Dystrophin myonuclear domain restoration governs treatment efficacy in dystrophic muscle.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Non-uniform dystrophin re-expression after CRISPR-mediated exon excision in the dystrophin/utrophin double-knockout mouse model of DMD.Molecular therapy. Nucleic acids · 2022Article
- Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.International journal of molecular sciences · 2022Review
- Exon skipping induces uniform dystrophin rescue with dose-dependent restoration of serum miRNA biomarkers and muscle biophysical properties.Molecular therapy. Nucleic acids · 2022Article
- Systemic delivery of an AAV9 exon-skipping vector significantly improves or prevents features of Duchenne muscular dystrophy in the Dup2 mouse.Molecular therapy. Methods & clinical development · 2022Article
- Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription.Scientific reports · 2022Article
- Lack of Toxicity in Nonhuman Primates Receiving Clinically Relevant Doses of an AAV9.U7snRNA Vector Designed to InduceHuman gene therapy · 2021Article
- Pre-clinical dose-escalation studies establish a therapeutic range for U7snRNA-mediatedMolecular therapy. Methods & clinical development · 2021Article
- U7 snRNA: A tool for gene therapy.The journal of gene medicine · 2021Review
- Mutation-independent Proteomic Signatures of Pathological Progression in Murine Models of Duchenne Muscular Dystrophy.Molecular & cellular proteomics : MCP · 2020Article
- Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back.Journal of personalized medicine · 2020Review
- Long-Term Efficacy of AAV9-U7snRNA-Mediated Exon 51 Skipping inMolecular therapy. Methods & clinical development · 2020Article
- Combined Treatment with Peptide-Conjugated Phosphorodiamidate Morpholino Oligomer-PPMO and AAV-U7 Rescues the Severe DMD Phenotype in Mice.Molecular therapy. Methods & clinical development · 2020Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder caused by mutations in the dystrophin gene that result in the absence of functional protein. Antisense-mediated exon skipping is one of the most promising approaches for the treatment of DMD and recent clinical trials have demonstrated encouraging results. However, antisense oligonucleotide-mediated exon skipping for DMD still faces major hurdles such as extremely low efficacy in the cardiac muscle, poor cellular uptake and relatively rapid clearance from circulation, which means that repeated administrations are required to achieve some therapeutic efficacy. To overcome these limitations, we previously proposed the use of small nuclear RNAs (snRNAs), especially U7snRNA to shuttle the antisense sequences after vectorization into adeno-associated virus (AAV) vectors. In this study, we report for the first time the efficiency of the AAV-mediated exon skipping approach in the utrophin/dystrophin double-knockout (dKO) mouse which is a very severe and progressive mouse model of DMD. Following a single intravenous injection of scAAV9-U7ex23 in dKO mice, near-normal levels of dystrophin expression were restored in all muscles examined, including the heart. This resulted in a considerable improvement of their muscle function and dystrophic pathology as well as a remarkable extension of the dKO mice lifespan. These findings suggest great potential for AAV-U7 in systemic treatment of the DMD phenotype.
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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.