| Angelman syndrome at the synapse: meeting report of the Angelman Syndrome Foundation's 2009 scientific symposium. | |
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MedLine Citation:
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PMID: 20101047 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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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Authors:
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Charles Williams; Lisa Franco |
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Publication Detail:
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Type: Congresses; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of child neurology Volume: 25 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2010 Feb |
Date Detail:
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Created Date: 2010-01-26 Completed Date: 2010-03-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
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Languages: eng Pagination: 254-61 Citation Subset: IM |
Affiliation:
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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 |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Angelman Syndrome
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genetics,
physiopathology*,
therapy Animals Brain / physiopathology Humans Neuronal Plasticity / physiology Synapses / physiology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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