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 inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Testa F et al.
Eye (london, England), 2024
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.
Stepanova A et al.
Genes, 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
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
Prescreening whole exome sequencing results from patients with retinal degeneration for variants in genes associated with retinal degeneration.
Bryant L et al.
Clinical Ophthalmology (auckland, N.z.), 2018
Functional Rescue of Retinal Degeneration-Associated Mutant RPE65 Proteins.
Jin M et al.
Advances in Experimental Medicine and Biology, 2016
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
Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years.
Jacobson SG et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2012
Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa.
Walia S et al.
Ophthalmology, 2010
Negative charge of the glutamic acid 417 residue is crucial for isomerohydrolase activity of RPE65.
Nikolaeva O et al.
Biochemical and Biophysical Research Communications, 2010
Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in southern India.
Sundaresan P et al.
Molecular Vision, 2009
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.
Jacobson SG et al.
Investigative Ophthalmology & Visual Science, 2009
Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.
Hauswirth WW et al.
Human Gene Therapy, 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
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