Associated Papers
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
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
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
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
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 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 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
Generation and Characterization of Induced Pluripotent Stem Cells and Retinal Organoids From a Leber's Congenital Amaurosis Patient With Novel RPE65 Mutations.
Li G et al.
Frontiers in Molecular Neuroscience, 2019
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Choi EH et al.
Human Molecular Genetics, 2018
The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome.
Braun D et al.
Endocrinology, 2017
In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL et al.
Scientific Reports, 2016
Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.
Jin M et al.
Advances in Experimental Medicine and Biology, 2016
Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trial.
Tucker BA et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2015
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis.
Li S et al.
Journal of Biochemistry, 2015
Rescue of enzymatic function for disease-associated RPE65 proteins containing various missense mutations in non-active sites.
Li S et al.
The Journal of Biological Chemistry, 2014
A novel mutation in the RPE65 gene causing Leber congenital amaurosis and its transcriptional expression in vitro.
Mo G et al.
Plos One, 2014
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Predicting the pathogenicity of RPE65 mutations.
Philp AR et al.
Human Mutation, 2009
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2009
Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2008
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007