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Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA. willicx@peds.ufl.edu
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.
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