1,915 Views
•
06:35 min
October 10, 2022
DOI:
10.3791/64454-v
开发了一种简单且可扩展的方法来评估Ube3a中错义变异的功能意义, Ube3a是一种基因,其功能的丧失和获得与Angelman综合征和自闭症谱系障碍有关。
00:06
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Related Videos
13592 Views
08:22
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
7834 Views
06:20
Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
7007 Views
09:22
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
5424 Views
10:26
Profiling Ubiquitin and Ubiquitin-like Dependent Post-translational Modifications and Identification of Significant Alterations
5542 Views
09:47
Evaluation of Substrate Ubiquitylation by E3 Ubiquitin-ligase in Mammalian Cell Lysates
2475 Views
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
8568 Views
07:05
Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
408 Views
06:35
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
1.9K Views
09:40
A Rapid, Scalable Method for the Isolation, Functional Study, and Analysis of Cell-derived Extracellular Matrix
16.5K Views
Read Article
Cite this Article
Stelzer, J. A., Yi, J. J. A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants. J. Vis. Exp. (188), e64454, doi:10.3791/64454 (2022).
Download .ris file
Copy
Share Video
.