A High Sensitivity Assay of UBE3A Ubiquitin Ligase Activity

Abstract excerpt

UBE3A is an E3 ubiquitin ligase associated with several neurodevelopmental disorders. The development of several preclinical therapeutic approaches involving UBE3A, such as gene therapy, enzyme replacement therapy, and epigenetic reactivation, require the detection of its ubiquitin ligase activity. Prior commercial assays leveraged Western Blotting to detect shifts in substrate size due to ubiquitination, but thes...

Topics

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• Angelman Syndrome
• Cellular transport and secretion
• Enzyme Assays
• Gain of Function Mutation
• Loss of Function Mutation
• Peptidase Inhibition and Analysis
• Ubiquitin and proteasome pathways
• Ubiquitin-Protein Ligases

Identifiers and source

Literature Corpus work

8282aca0-9bcb-5630-9eae-c0f35521350c

DOI

10.1101/2025.01.05.631408