1,993 Views
•
06:35 min
•
October 10, 2022
DOI:
Summary
Automatically generated
שיטה פשוטה ומדרגית פותחה כדי להעריך את המשמעות התפקודית של גרסאות missense ב- Ube3a, גן שאובדן ורווח תפקודו קשורים הן לתסמונת אנג'למן והן להפרעת ספקטרום האוטיזם.
Related Videos
00:06
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Related Videos
13680 Views
08:22
A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
Related Videos
7913 Views
06:20
Exon Skipping in Directly Reprogrammed Myotubes Obtained from Human Urine-Derived Cells
Related Videos
7087 Views
09:22
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
Related Videos
5493 Views
10:26
Profiling Ubiquitin and Ubiquitin-like Dependent Post-translational Modifications and Identification of Significant Alterations
Related Videos
5603 Views
09:47
Evaluation of Substrate Ubiquitylation by E3 Ubiquitin-ligase in Mammalian Cell Lysates
Related Videos
2582 Views
08:22
A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Related Videos
8626 Views
07:05
Measuring Enzymatic Activity of Neurodevelopmental Disorder-Associated Deubiquitylating Enzymes via an In Vitro Ubiquitin Chain Cleavage Assay
Related Videos
472 Views
06:35
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
Related Videos
2.0K Views
09:40
A Rapid, Scalable Method for the Isolation, Functional Study, and Analysis of Cell-derived Extracellular Matrix
Related Videos
16.6K 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).
Copy