ArticleMolecular therapy. Nucleic acids2018
Spliceosome-Mediated Pre-mRNA trans-Splicing Can Repair CEP290 mRNA.
Article in Molecular therapy. Nucleic acids, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- RNAMolecular therapy. Nucleic acids · 2025Article
- Is It Scientifically Possible To 'Cure" Reward Deficiency Syndrome (RDS) Via Transplice Molecular Genetic Technology?Acta scientific neurology · 2025Article
- RNA exon editing: Splicing the way to treat human diseases.Molecular therapy. Nucleic acids · 2024Review
- Repurposing CRISPR-Cas13 systems for robust mRNA trans-splicing.Nature communications · 2024Article
- Article
- Review
- Evaluating a Targeted Cancer Therapy Approach Mediated by RNAInternational journal of molecular sciences · 2022Article
- Gene-agnostic therapeutic approaches for inherited retinal degenerations.Frontiers in molecular neuroscience · 2022Review
- The Alter Retina: Alternative Splicing of Retinal Genes in Health and Disease.International journal of molecular sciences · 2021Review
- Therapeutic applications of trans-splicing.British medical bulletin · 2020Article
- Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.Genes · 2019Review
- The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity.Translational science of rare diseases · 2019Article
- AKT3 Gene Transfer Promotes Anabolic Reprogramming and Photoreceptor Neuroprotection in a Pre-clinical Model of Retinitis Pigmentosa.Molecular therapy : the journal of the American Society of Gene Therapy · 2019Article
- CRISPR Activation EnhancesMolecular therapy. Methods & clinical development · 2019Article
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
Ocular gene therapy with recombinant adeno-associated virus (AAV) has shown vector-mediated gene augmentation to be safe and efficacious in the retina in one set of diseases (retinitis pigmentosa and Leber congenital amaurosis (LCA) caused by RPE65 deficiency), with excellent safety profiles to date and potential for efficacy in several additional diseases. However, size constraints imposed by the packaging capacity of the AAV genome restrict application to diseases with coding sequence lengths that are less than 5,000 nt. The most prevalent retinal diseases with monogenic inheritance are caused by mutations in genes that exceed this capacity. Here, we designed a spliceosome mediated pre-mRNA trans-splicing strategy to rescue expression of CEP290, which is associated with Leber congenital amaurosis type 10 (LCA10) and several syndromic diseases including Joubert syndrome. We used this reagent to demonstrate editing of CEP290 in cell lines in vitro and in vivo in a mini-gene mouse model. This study is the first to show broad editing of CEP290 transcripts and in vivo proof of concept for editing of CEP290 transcripts in photoreceptors and paves the way for future studies evaluating therapeutic effects.
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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.