Associated Papers
Pathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.
Wu G et al.
Translational Vision Science & Technology, 2026
Outer retinal tubulation associated with photoreceptor degeneration.
Lin V et al.
Progress in Retinal and Eye Research, 2026
Dynamic Inner Blood Retina Barrier Disruption in Retinitis Pigmentosa.
Byrne K et al.
Investigative Ophthalmology & Visual Science, 2025
Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K).
Van Vooren E et al.
Stem Cell Research, 2025
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities.
Jiang Y et al.
Biomolecules, 2025
Higher Throughput Assays for Understanding the Pathogenicity of Variants of Unknown Significance in the RPE65 Gene.
Azizzadeh Pormehr L et al.
Investigative Ophthalmology & Visual Science, 2025
RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.
Van Vooren E et al.
Investigative Ophthalmology & Visual Science, 2025
Inherited retinal diseases in Kentucky: diagnostic yield, gene variants, and novel mutations in a U.S. population.
Demas N et al.
Bmc Medical Genomics, 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
RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.
Vooren EV et al.
Research Square, 2025
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments.
Cheerie D et al.
American Journal of Human Genetics, 2025
The value of age of onset and family history as predictors of molecular diagnosis in a Swedish cohort of inherited retinal disease.
De Geer K et al.
Acta Ophthalmologica, 2025
MFRP is a molecular hub that organizes the apical membrane of RPE cells by engaging in interactions with specific proteins and lipids.
Tworak A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene.
Pormehr LA et al.
Biorxiv : the Preprint Server for Biology, 2025
Cross-Sectional Analysis of Outer Retinal Tubulation in Inherited Retinal Diseases: A Multicenter Study.
Liu PK et al.
American Journal of Ophthalmology, 2025
Dual inheritance patterns: A spectrum of non-syndromic inherited retinal disease phenotypes with varying molecular mechanisms.
Holtes LK et al.
Progress in Retinal and Eye Research, 2025
Prime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation.
da Costa BL et al.
Advances in Experimental Medicine and Biology, 2025
Linking Protein Stability to Pathogenicity: Predicting Clinical Significance of Single-Missense Mutations in Ocular Proteins Using Machine Learning.
Majid I et al.
International Journal of Molecular Sciences, 2024
Clinical and molecular findings in children with retinitis pigmentosa.
Li C et al.
Ophthalmic Genetics, 2024
RPE65-Associated Retinal Dystrophies: Phenotypes and Treatment Effects with Voretigene Neparvovec.
Stingl K et al.
Klinische Monatsblatter Fur Augenheilkunde, 2024
Gene Supplementation in Mice Heterozygous for the D477G RPE65 Variant Implicated in Autosomal Dominant Retinitis Pigmentosa.
Feathers KL et al.
Human Gene Therapy, 2023
Choroideremia: Toward Regulatory Approval of Retinal Gene Therapy.
Yusuf IH et al.
Cold Spring Harbor Perspectives in Medicine, 2023
Buffering of genetic dominance by allele-specific protein complex assembly.
Badonyi M et al.
Science Advances, 2023
Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee.
Han J et al.
Korean Journal of Ophthalmology : Kjo, 2023
PNPLA2 mobilizes retinyl esters from retinosomes and promotes the generation of 11-cis-retinal in the visual cycle.
Hara M et al.
Cell Reports, 2023
Therapy with voretigene neparvovec. How to measure success?
Stingl K et al.
Progress in Retinal and Eye Research, 2023
An inducible amphipathic α-helix mediates subcellular targeting and membrane binding of RPE65.
Uppal S et al.
Life Science Alliance, 2023
Environmental Light Has an Essential Effect on the Disease Expression in a Dominant RPE65 Mutation.
Wu W et al.
Advances in Experimental Medicine and Biology, 2023
Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
Wu J et al.
Peerj, 2023
The First Homozygote Mutation c.499G>T (Asp167Tyr) in the RPE65 Gene Encoding Retinoid Isomerohydrolase Causing Retinal Dystrophy
Bjeloš M et al.
Current Issues in Molecular Biology, 2022
Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis.
Cho EH et al.
Orphanet Journal of Rare Diseases, 2022
Novel disease-causing variant in RDH12 presenting with autosomal dominant retinitis pigmentosa.
Muthiah MN et al.
The British Journal of Ophthalmology, 2022
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation.
Wu W et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).
Pappalardo J et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2021
Whole exome sequencing reveals putatively novel associations in retinopathies and drusen formation.
Doucette LP et al.
European Journal of Human Genetics : Ejhg, 2021
Molecular genetics of inherited retinal degenerations in Icelandic patients.
Thorsteinsson DA et al.
Clinical Genetics, 2021
Clinical Perspective: Treating RPE65-Associated Retinal Dystrophy.
Maguire AM et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 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
Properties and Therapeutic Implications of an Enigmatic D477G RPE65 Variant Associated with Autosomal Dominant Retinitis Pigmentosa.
Kiang AS et al.
Genes, 2020
Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.
Fuster-García C et al.
Genes, 2020
RPE65 mutation frequency and phenotypic variation according to exome sequencing in a tertiary centre for genetic eye diseases in China.
Li S et al.
Acta Ophthalmologica, 2020