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

2.0K Views

06:35 min

October 10th, 2022

DOI :

10.3791/64454-v

October 10th, 2022


Transcript

Explore More Videos

Ube3a Variants

Chapters in this video

0:05

Introduction

1:04

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

Related Videos

00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

13.7K Views

08:22

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

7.9K Views

09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

5.5K Views

10:26

Profiling Ubiquitin and Ubiquitin-like Dependent Post-translational Modifications and Identification of Significant Alterations

5.6K Views

08:53

A Reporter Based Cellular Assay for Monitoring Splicing Efficiency

2.8K Views

07:05

Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay

485 Views

12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

20.7K Views

07:47

Reporter-based Growth Assay for Systematic Analysis of Protein Degradation

10.7K Views

09:45

Method for Measuring the Activity of Deubiquitinating Enzymes in Cell Lines and Tissue Samples

9.7K Views

11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)

13.0K Views