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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
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UBE3A and Its Link With Autism.

Naman Vatsa1, Nihar Ranjan Jana2

  • 1Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre, Gurugram, India.

Frontiers in Molecular Neuroscience
|December 21, 2018
PubMed
Summary
This summary is machine-generated.

The UBE3A protein regulates brain development and synaptic function. Alterations in UBE3A gene activity are linked to Angelman syndrome and autism spectrum disorder.

Keywords:
Angelman syndromeUBE3Aanimal modelsautismsynaptic plasticity

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Area of Science:

  • Neuroscience
  • Genetics
  • Molecular Biology

Background:

  • The UBE3A gene exhibits maternal imprinting in the brain, with critical roles in neuronal development.
  • Loss-of-function mutations in UBE3A cause Angelman syndrome (AS), a neurodevelopmental disorder.
  • Gain-of-function mutations or duplications of UBE3A are associated with autism spectrum disorder (ASD).

Purpose of the Study:

  • To review the crucial role of the UBE3A protein in regulating synaptic function and plasticity.
  • To explore the association between altered UBE3A activity and the pathogenesis of autism.

Main Methods:

  • Literature review of studies investigating UBE3A function in the brain.
  • Analysis of genetic and molecular mechanisms underlying UBE3A's role in neurodevelopment.
  • Examination of the link between UBE3A dysregulation and neurodevelopmental disorders.

Main Results:

  • UBE3A functions as both a ubiquitin ligase and transcriptional co-activator.
  • UBE3A is essential for proper synaptic function and plasticity.
  • Dysregulation of UBE3A impacts neuronal development and contributes to AS and ASD phenotypes.

Conclusions:

  • UBE3A activity must be tightly regulated for normal brain development.
  • UBE3A plays a significant role in synaptic plasticity and neuronal function.
  • Altered UBE3A expression or function is a key factor in the etiology of Angelman syndrome and autism.