Associated Papers
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
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
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
RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study.
Testa F et al.
Investigative Ophthalmology & Visual Science, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.
Bernardis I et al.
Biomed Research International, 2016
Identification of key residues determining isomerohydrolase activity of human RPE65.
Takahashi Y 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
Comprehensive mutation analysis by whole-exome sequencing in 41 Chinese families with Leber congenital amaurosis.
Chen Y et al.
Investigative Ophthalmology & Visual Science, 2013
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
RPE65: role in the visual cycle, human retinal disease, and gene therapy.
Cai X et al.
Ophthalmic Genetics, 2009
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 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
Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients.
Simonelli F et al.
Investigative Ophthalmology & Visual Science, 2007
Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65.
Chen Y et al.
Febs Letters, 2006
Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis.
Simovich MJ et al.
Human Mutation, 2001
[Molecular-genetic basis of tapetoretinal degeneration].
Dzhemileva LU et al.
Molekuliarnaia Biologiia, 0