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
41051147 (PubMed )
Supplement: iovs-66-13-10_s001.pdf
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
40879297 (PubMed )
Supplement: iovs-66-11-73_s001.xlsx › Assessment
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
39975398 (PubMed )
Supplement: NIHPP2025.01.31.635952V1-supplement-1.pdf
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
37547722 (PubMed )
Supplement: peerj-11-15702-s004.xlsx › Table_S2
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
Insights into the pathogenesis of dominant retinitis pigmentosa associated with a D477G mutation in RPE65.
Choi EH et al.
Human Molecular Genetics, 2018
In silico Mapping of Protein Unfolding Mutations for Inherited Disease.
McCafferty CL et al.
Scientific Reports, 2016
27905547 (PubMed )
Supplement: srep37298-s1.pdf
Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.
Jin M et al.
Advances in Experimental Medicine and Biology, 2016
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
Predicting the pathogenicity of RPE65 mutations.
Philp AR et al.
Human Mutation, 2009
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.
Stone EM
American Journal of Ophthalmology, 2007
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