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

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

DOI:
10.3791/64454-v

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06:35 min

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October 10, 2022

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1Department of Neuroscience,Washington University School of Medicine

Chapters

  • 00:05Introduction
  • 01:04Preparation and Transfection of Human Embryonic Kidney 293T (HEK293T) Cells
  • 02:47Measurement of Luciferase Activity
  • 04:26Results: Large-Scale Functional Screening of UBE3A Missense Variants Identifies Loss- and Gain-of-Function Mutations
  • 05:56Conclusion

Summary

Automatic Translation

Automatic Translation

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.

Tags

Keywords: Ube3a VariantsAngelman SyndromeDup15q SyndromeUbiquitin Ligase ActivityHEK293T CellsLuciferase Reporter AssayTransfectionCell-based MethodFunctional Assessment

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