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关于UBE3A/E6AP结构与功能的天使综合征科学研讨会

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

作者信息

Williams Charles

机构信息

Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.

出版信息

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.

摘要

1997年,安吉尔曼综合征的遗传基础被确定为UBE3A/E6-AP基因的破坏,该基因是泛素降解途径中的一个重要蛋白质成分。在过去十年中,人们越来越关注这个基因及其在神经元中的功能,特别是它如何调节与突触功能相关的蛋白质稳态。这次研讨会使神经科学家和其他研究人员能够展示和讨论旨在更好地理解UBE3A及其在安吉尔曼综合征中作用的研究。

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