Williams Charles, Franco Lisa
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA.
J Child Neurol. 2010 Feb;25(2):254-61. doi: 10.1177/0883073809353450.
Angelman syndrome is caused by disruption of the ubiquitin-protein ligase E3A gene (UBE3A). The gene encodes an ubiquitinating protein that is widely expressed in the body but has tissue-specific expression in brain neurons, resulting in transcription from only the maternal allele. The normal function of this protein is beginning to be delineated, but its protein targets and role in various cellular pathways remain elusive. Angelman syndrome mouse models lacking the protein in the brain provide insight into neuronal cell dysfunction, particularly in hippocampal neurons where dendritic structure and synaptic function become disturbed. The Angelman Syndrome Foundation's 2009 symposium theme was thus ''Angelman Syndrome at the Synapse,'' and the event enabled neuroscientists and other researchers and clinicians to present their current research on the syndrome.
天使综合征是由泛素蛋白连接酶E3A基因（UBE3A）的破坏引起的。该基因编码一种泛素化蛋白，该蛋白在体内广泛表达，但在脑神经元中具有组织特异性表达，导致仅从母本等位基因转录。这种蛋白的正常功能正开始被阐明，但其蛋白质靶点以及在各种细胞途径中的作用仍不清楚。缺乏脑中该蛋白的天使综合征小鼠模型有助于深入了解神经元细胞功能障碍，特别是在海马神经元中，其树突结构和突触功能会受到干扰。因此，天使综合征基金会2009年研讨会的主题是“突触处的天使综合征”，该活动使神经科学家以及其他研究人员和临床医生能够展示他们目前对该综合征的研究。
