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Journal
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Neuroscience
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一种可扩展的、基于细胞的
Ube3a
变体功能评估方法
JoVE Journal
Neuroscience
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JoVE Journal
Neuroscience
A Scalable, Cell-Based Method for the Functional Assessment of
Ube3a
Variants
Please note that all translations are automatically generated.
Click here for the English version.
一种可扩展的、基于细胞的
Ube3a
变体功能评估方法
DOI:
10.3791/64454-v
•
06:35 min
•
October 10, 2022
•
Jalin A. Stelzer
,
Jason J. Yi
1
Department of Neuroscience
,
Washington University School of Medicine
Chapters
00:05
Introduction
01:04
Preparation and Transfection of Human Embryonic Kidney 293T (HEK293T) Cells
02:47
Measurement of Luciferase Activity
04:26
Results: Large-Scale Functional Screening of UBE3A Missense Variants Identifies Loss- and Gain-of-Function Mutations
05:56
Conclusion
Summary
Automatic Translation
English (Original)
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Automatic Translation
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。
Tags
Ube3a Variants
Angelman Syndrome
Dup15q Syndrome
Ubiquitin Ligase Activity
HEK293T Cells
Luciferase Reporter Assay
Transfection
Cell-based Method
Functional Assessment
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