Preparation and Transfection of Human Embryonic Kidney 293T (HEK293T) Cells
2:47
Measurement of Luciferase Activity
4:26
Results: Large-Scale Functional Screening of UBE3A Missense Variants Identifies Loss- and Gain-of-Function Mutations
5:56
Conclusion
Transcript
Our method provides a rapid way to understand the functional impact of variants in Ube3a, a ubiquitin ligase that causes Angelman syndrome and is strongly linked to a genetic form of autism known as Dup15q syndrome. The characterization of ubiquit
Sign in or start your free trial to access this content
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.