Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP

J Child Neurol. 2009 Jul;24(7):904-8. doi: 10.1177/0883073809332767.

Abstract

In 1997, the genetic basis for the Angelman syndrome was identified as disruption of the UBE3A/E6-AP gene, an important protein component is the ubiquitin degradation pathway. During the last decade, increasing attention has been focused on this gene and how it functions within neurons, especially how it regulates protein homeostasis associated with synaptic function. The symposium enabled neuroscientists and other researchers to present and discuss studies targeted toward better understanding of UBE3A and its role in the Angelman syndrome.

Publication types

  • Congress

MeSH terms

  • Angelman Syndrome / drug therapy
  • Angelman Syndrome / genetics*
  • Angelman Syndrome / physiopathology
  • Animals
  • Animals, Genetically Modified
  • Brain / pathology
  • Brain / physiopathology
  • Cell Death
  • Drug Design
  • Humans
  • MicroRNAs
  • Neuronal Plasticity
  • Proteasome Endopeptidase Complex / physiology
  • RNA, Messenger / metabolism
  • Signal Transduction
  • Stress, Physiological / physiology
  • Synapses / physiology
  • Ubiquitin / metabolism
  • Ubiquitin-Protein Ligases / genetics*
  • Ubiquitin-Protein Ligases / metabolism*

Substances

  • MicroRNAs
  • RNA, Messenger
  • Ubiquitin
  • UBE3A protein, human
  • Ubiquitin-Protein Ligases
  • Proteasome Endopeptidase Complex