Associated Papers
CRISPR as a therapeutic tool for inherited retinal degenerations: Advances, challenges, and future directions.
Galdikaite-Braziene E et al.
Molecular Aspects of Medicine, 2026
Translational readthrough using TRIDs - Achievements and challenges for the treatment of inherited retinal disorders.
Nagel-Wolfrum K et al.
Molecular Aspects of Medicine, 2026
AAV-delivered engineered suppressor tRNA rescues visual function in mice with an inherited retinal disease.
Ren C et al.
Nature Communications, 2025
Adenine base editor correction of pathogenic variations associated with inherited retinal dystrophy in patient iPSC and retinal organoids.
Leung A et al.
Molecular Therapy. Nucleic Acids, 2025
Eyes shut homolog (EYS): Connecting molecule to disease.
Marques JP et al.
Progress in Retinal and Eye Research, 2025
Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Abdul R et al.
Investigative Ophthalmology & Visual Science, 2025
In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.
Hu S et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
Bystander editing by adenine base editors impairs vision restoration in a mouse model of Leber congenital amaurosis.
Lee SH et al.
Molecular Therapy. Methods & Clinical Development, 2025
Innovative therapies for inherited retinal dystrophies: navigating DNA, RNA, and protein approaches.
Gómez-Escribano AP et al.
Ebiomedicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Bystander base editing interferes with visual function restoration in Leber congenital amaurosis.
Lee SH et al.
Biorxiv : the Preprint Server for Biology, 2024
AAV-mediated base-editing therapy ameliorates the disease phenotypes in a mouse model of retinitis pigmentosa.
Wu Y et al.
Nature Communications, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.
Zobor D et al.
International Journal of Molecular Sciences, 2023
In vivo application of base and prime editing to treat inherited retinal diseases.
Jo DH et al.
Progress in Retinal and Eye Research, 2023
Visual function restoration in a mouse model of Leber congenital amaurosis via therapeutic base editing.
Jo DH et al.
Molecular Therapy. Nucleic Acids, 2023
Prime Editing for Human Gene Therapy: Where Are We Now?
Godbout K et al.
Cells, 2023
Dual-AAV split prime editor corrects the mutation and phenotype in mice with inherited retinal degeneration.
She K et al.
Signal Transduction and Targeted Therapy, 2023
Electrophysiology-Guided Genetic Characterisation Maximises Molecular Diagnosis in an Irish Paediatric Inherited Retinal Degeneration Population.
Zhu J et al.
Genes, 2022
Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.
Shi J et al.
Journal of Clinical Medicine, 2021
Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population.
Gao FJ et al.
Orphanet Journal of Rare Diseases, 2021
Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing.
Suh S et al.
Nature Biomedical Engineering, 2021
RNA-based therapies in animal models of Leber congenital amaurosis causing blindness.
Wang X et al.
Precision Clinical Medicine, 2020
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Fuster-García C et al.
Genes, 2020
Retinal Structure in RPE65-Associated Retinal Dystrophy.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2020
The Natural History of Inherited Retinal Dystrophy Due to Biallelic Mutations in the RPE65 Gene.
Chung DC et al.
American Journal of Ophthalmology, 2019
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
Jespersgaard C et al.
Scientific Reports, 2019
Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population.
Zhong Z et al.
Molecular Vision, 2019
A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis.
Kumaran N et al.
Investigative Ophthalmology & Visual Science, 2018
The genetic profile of Leber congenital amaurosis in an Australian cohort.
Thompson JA et al.
Molecular Genetics & Genomic Medicine, 2017
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
Astuti GD et al.
European Journal of Human Genetics : Ejhg, 2016
Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).
Nagel-Wolfrum K et al.
Biodrugs : Clinical Immunotherapeutics, Biopharmaceuticals and Gene Therapy, 2016
Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations.
Nagel-Wolfrum K et al.
Visual Neuroscience, 2014
The Rpe65 rd12 allele exerts a semidominant negative effect on vision in mice.
Wright CB et al.
Investigative Ophthalmology & Visual Science, 2014
RPE65: role in the visual cycle, human retinal disease, and gene therapy.
Cai X et al.
Ophthalmic Genetics, 2009