ArticleMolecular therapy : the journal of the American Society of Gene Therapy2012
Long-term restoration of cardiac dystrophin expression in golden retriever muscular dystrophy following rAAV6-mediated exon skipping.
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 52 papers.
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Who cites it
52 citing papers in PubMed, 82 citations in OpenAlex.
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- Therapeutic targeting of RNA for neurological and neuromuscular disease.Genes & development · 2024Review
- Potential limitations of microdystrophin gene therapy for Duchenne muscular dystrophy.JCI insight · 2024Article
- Non-viral delivery of nucleic acid for treatment of rare diseases of the muscle.Journal of biosciences · 2024Review
- RNA-Based Therapeutic Technology.International journal of molecular sciences · 2023Review
- MRI Evaluation of Gene Therapy in the Canine Model of Duchenne Muscular Dystrophy.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Recent Progress and Challenges in the Development of Antisense Therapies for Myotonic Dystrophy Type 1.International journal of molecular sciences · 2022Review
- 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
- Peptide-Functionalized Dendrimer Nanocarriers for Targeted Microdystrophin Gene Delivery.Pharmaceutics · 2021Article
- Of rAAV and Men: From Genetic Neuromuscular Disorder Efficacy and Toxicity Preclinical Studies to Clinical Trials and Back.Journal of personalized medicine · 2020Review
- 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
- Duchenne muscular dystrophy animal models for high-throughput drug discovery and precision medicine.Expert opinion on drug discovery · 2020Review
- Canine Models of Inherited Musculoskeletal and Neurodegenerative Diseases.Frontiers in veterinary science · 2020Review
- The Dog Model in the Spotlight: Legacy of a Trustful Cooperation.Journal of neuromuscular diseases · 2019Article
- RNA Splicing and Disease: Animal Models to Therapies.Trends in genetics : TIG · 2019Review
- Multiple Exon Skipping in the Duchenne Muscular Dystrophy Hot Spots: Prospects and Challenges.Journal of personalized medicine · 2018Review
- Exon Skipping in a Dysf-Missense Mutant Mouse Model.Molecular therapy. Nucleic acids · 2018Article
- RNA-Seq Analysis of an Antisense Sequence Optimized for Exon Skipping in Duchenne Patients Reveals No Off-Target Effect.Molecular therapy. Nucleic acids · 2018Article
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Authors and funding
21 authors at 7 institutions in 2 countries.
Funding
Abstract
Although restoration of dystrophin expression via exon skipping in both cardiac and skeletal muscle has been successfully demonstrated in the mdx mouse, restoration of cardiac dystrophin expression in large animal models of Duchenne muscular dystrophy (DMD) has proven to be a challenge. In large animals, investigators have focused on using intravenous injection of antisense oligonucleotides (AO) to mediate exon skipping. In this study, we sought to optimize restoration of cardiac dystrophin expression in the golden retriever muscular dystrophy (GRMD) model using percutaneous transendocardial delivery of recombinant AAV6 (rAAV6) to deliver a modified U7 small nuclear RNA (snRNA) carrying antisense sequence to target the exon splicing enhancers of exons 6 and 8 and correct the disrupted reading frame. We demonstrate restoration of cardiac dystrophin expression at 13 months confirmed by reverse transcription-PCR (RT-PCR) and immunoblot as well as membrane localization by immunohistochemistry. This was accompanied by improved cardiac function as assessed by cardiac magnetic resonance imaging (MRI). Percutaneous transendocardial delivery of rAAV6 expressing a modified U7 exon skipping construct is a safe, effective method for restoration of dystrophin expression and improvement of cardiac function in the GRMD canine and may be easily translatable to human DMD patients.
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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.