ArticleMolecular therapy. Nucleic acids2017
USH2A Gene Editing Using the CRISPR System.
Article in Molecular therapy. Nucleic acids, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 46 papers.
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Who cites it
46 citing papers in PubMed, 65 citations in OpenAlex.
- VALIDATION OF A DEEP LEARNING-BASED ALGORITHM FOR SEGMENTATION OF THE ELLIPSOID ZONE ON OPTICAL COHERENCE TOMOGRAPHY IMAGES OF AN USH2A-RELATED RETINAL DEGENERATION CLINICAL TRIAL.Retina (Philadelphia, Pa.) · 2022Trial
- Anatomy- versus Sensitivity-Based Loci Preselection in Detecting USH2A-Retinopathy Microperimetric Progression.Ophthalmology science · 2026Article
- Natural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association Study.American journal of ophthalmology · 2025Article
- Usher Syndrome: New Insights into Classification, Genotype-Phenotype Correlation, and Management.Genes · 2025Review
- CRISPR/Cas System: A Powerful Strategy to Improve Monogenic Human Diseases as Therapeutic Delivery; Current Applications and Challenges.Current gene therapy · 2025Review
- Current approaches for Usher syndrome disease models and developing therapies.Frontiers in cell and developmental biology · 2025Review
- Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro model.Skeletal muscle · 2024Article
- Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.Biomolecules · 2024Review
- Creation of an Isogenic Human iPSC-Based RGC Model of Dominant Optic Atrophy Harboring the Pathogenic Variant c.1861C>T (p.Gln621Ter) in theInternational journal of molecular sciences · 2024Article
- Recent Therapeutic Progress and Future Perspectives for the Treatment of Hearing Loss.Biomedicines · 2023Review
- Therapeutic applications of CRISPR/Cas9 gene editing technology for the treatment of ocular diseases.The FEBS journal · 2023Review
- Successful large gene augmentation of USH2A with non-viral episomal vectors.Molecular therapy : the journal of the American Society of Gene Therapy · 2023Article
- PCR-Based Strategy for Introducing CRISPR/Cas9 Machinery into Hematopoietic Cell Lines.Cancers · 2023Article
- Efficient correction ofMolecular therapy. Nucleic acids · 2023Article
- Whole genome sequencing forHGG advances · 2023Article
- CRISPR-Cas9 editing of a TNPO3 mutation in a muscle cell model of limb-girdle muscular dystrophy type D2.Molecular therapy. Nucleic acids · 2023Article
- Long-Term Evaluation of Retinal Morphology and Function in Rosa26-Cas9 Knock-In Mice.International journal of molecular sciences · 2023Article
- The application and progression of CRISPR/Cas9 technology in ophthalmological diseases.Eye (London, England) · 2023Review
- Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease Severity.American journal of ophthalmology · 2022Article
- Generation of the First Human In Vitro Model for McArdle Disease Based on iPSC Technology.International journal of molecular sciences · 2022Article
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
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting strategy that can be explored using the CRISPR/Cas9 system. In this study, this method of gene editing is used to target the c.2299delG mutation on fibroblasts from an USH patient carrying the mutation in homozygosis. Successful in vitro mutation repair was demonstrated using locus-specific RNA-Cas9 ribonucleoproteins with subsequent homologous recombination repair induced by an engineered template supply. Effects on predicted off-target sites in the CRISPR-treated cells were discarded after a targeted deep-sequencing screen. The proven effectiveness and specificity of these correction tools, applied to the c.2299delG pathogenic variant of USH2A, indicates that the CRISPR system should be considered to further explore a potential treatment of USH.
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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.