Higher throughput assays for understanding the pathogenicity of variants of unknown significance (VUS) in the RPE65 gene

Abstract excerpt

<h4>Purpose</h4> RPE65 is a key enzyme in the visual cycle that regenerates 11-cis retinal. Mutations in RPE65 cause a retinal dystrophy that is treatable with an FDA-approved gene therapy. Variants of unknown significance (VUS) on genetic testing can prevent patients from obtaining a firm genetic diagnosis and accessing gene therapy. Since most RPE65 mutations have a low protein expression level, this study de...

Topics

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• Blotting, Western
• cis-trans-Isomerases
• Flow Cytometry
• Genetic Testing
• High-Throughput Nucleotide Sequencing
• High-Throughput Screening Assays
• Retinal Dystrophies
• Transfection

Identifiers and source

Literature Corpus work

f7a4b236-3306-5617-816d-860983dc9589

DOI

10.1101/2025.01.31.635952