Journal
/
신경과학
/
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
JoVE 신문
신경과학
JoVE 비디오를 활용하시려면 도서관을 통한 기관 구독이 필요합니다.  전체 비디오를 보시려면 로그인하거나 무료 트라이얼을 시작하세요.
JoVE 신문 신경과학
A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

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

DOI:
10.3791/64454-v

•

06:35 min

•

October 10, 2022

•

,
1Department of Neuroscience,Washington University School of Medicine

Chapters

  • 00:05Introduction
  • 01:04Preparation and Transfection of Human Embryonic Kidney 293T (HEK293T) Cells
  • 02:47Measurement of Luciferase Activity
  • 04:26Results: Large-Scale Functional Screening of UBE3A Missense Variants Identifies Loss- and Gain-of-Function Mutations
  • 05:56Conclusion

Summary

자동 번역

자동 번역

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.

Tags

Ube3a VariantsAngelman SyndromeDup15q SyndromeUbiquitin Ligase ActivityHEK293T CellsLuciferase Reporter AssayTransfectionCell-based MethodFunctional Assessment

Article

Embed

플레이리스트에 추가

Usage Statistics

Related Videos

Scalable Fluidic Injector Arrays for Viral Targeting of Intact 3-D Brain Circuits

Functional Mapping with Simultaneous MEG and EEG

Assessment of Cerebral Lateralization in Children using Functional Transcranial Doppler Ultrasound (fTCD)

High-resolution Functional Magnetic Resonance Imaging Methods for Human Midbrain

Functional and Morphological Assessment of Diaphragm Innervation by Phrenic Motor Neurons

Assessment of Hippocampal Dendritic Complexity in Aged Mice Using the Golgi-Cox Method

Rewiring Neuronal Circuits: A New Method for Fast Neurite Extension and Functional Neuronal Connection

Ablation of a Neuronal Population Using a Two-photon Laser and Its Assessment Using Calcium Imaging and Behavioral Recording in Zebrafish Larvae

A Volumetric Method for Quantification of Cerebral Vasospasm in a Murine Model of Subarachnoid Hemorrhage

The Power of Interstimulus Interval for the Assessment of Temporal Processing in Rodents

Read Article