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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Article DOI: 10.3791/64454-v • 06:35 min • October 10th, 2022
October 10th, 2022 •
1, 1
1Department of Neuroscience, Washington University School of Medicine

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Summary
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A simple and scalable method was developed to assess the functional significance of missense variants in Ube3a, a gene whose loss and gain of function are linked to both Angelman syndrome and autism spectrum disorder.

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Scalable Cell-Based Method Functional Assessment Ube3a Variants Angelman Syndrome Dup15q Syndrome Ubiquitin Ligase Activity Missense Variants Ube3a Enzyme Empirical Testing Jalin Stelzer HEK293T Cells Dulbecco's Modified Eagle Medium Carbon Dioxide Biosafety Cabinet 96 Well Flat-bottomed Plate Firefly Luciferase Reporter Plasmid Renilla Luciferase Reporter Plasmid Ube3a Plasmid
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