Angelman syndrome: advancing the research frontier of neurodevelopmental disorders

This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These core symptoms are caused by maternal allele disruptions of...

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Main Authors:	Philpot, Benjamin D., Thompson, Coral E., Franco, Lisa, Williams, Charles A.
Format:	Online
Language:	English
Published:	Springer US 2010
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163993/

id	pubmed-3163993
recordtype	oai_dc
spelling	pubmed-31639932011-10-18 Angelman syndrome: advancing the research frontier of neurodevelopmental disorders Philpot, Benjamin D. Thompson, Coral E. Franco, Lisa Williams, Charles A. Article This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These core symptoms are caused by maternal allele disruptions of a single gene—UBE3A. UBE3A encodes an E3 ubiquitin ligase that targets certain proteins for proteasomal degradation. This biology has led to the expectation that the identification of Ube3a protein targets will lead to therapies for Angelman syndrome. The recent discovery of Ube3a substrates such as Arc (activity-regulated cytoskeletal protein) provides new insight into the mechanisms underlying the synaptic function and plasticity deficits caused by the loss of Ube3a. In addition to identifying Ube3a substrates, there have also been recent advances in understanding UBE3A's integrated role in the neuronal repertoire of genes and protein interactions. A developmental picture is now emerging whereby UBE3A gene dosage on chromosome 15 alters synaptic function, with deficiencies leading to Angelman syndrome and overexpression associated with classic autism symptomatology. Springer US 2010-12-03 2011-03 /pmc/articles/PMC3163993/ /pubmed/21484597 http://dx.doi.org/10.1007/s11689-010-9066-z Text en © Springer Science+Business Media, LLC 2010
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Philpot, Benjamin D. Thompson, Coral E. Franco, Lisa Williams, Charles A.
spellingShingle	Philpot, Benjamin D. Thompson, Coral E. Franco, Lisa Williams, Charles A. Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
author_facet	Philpot, Benjamin D. Thompson, Coral E. Franco, Lisa Williams, Charles A.
author_sort	Philpot, Benjamin D.
title	Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
title_short	Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
title_full	Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
title_fullStr	Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
title_full_unstemmed	Angelman syndrome: advancing the research frontier of neurodevelopmental disorders
title_sort	angelman syndrome: advancing the research frontier of neurodevelopmental disorders
description	This report is a meeting summary of the 2010 Angelman Syndrome Foundation's scientific symposium on the neuroscience of UBE3A. Angelman syndrome is characterized by loss of speech, severe developmental delay, seizures, and ataxia. These core symptoms are caused by maternal allele disruptions of a single gene—UBE3A. UBE3A encodes an E3 ubiquitin ligase that targets certain proteins for proteasomal degradation. This biology has led to the expectation that the identification of Ube3a protein targets will lead to therapies for Angelman syndrome. The recent discovery of Ube3a substrates such as Arc (activity-regulated cytoskeletal protein) provides new insight into the mechanisms underlying the synaptic function and plasticity deficits caused by the loss of Ube3a. In addition to identifying Ube3a substrates, there have also been recent advances in understanding UBE3A's integrated role in the neuronal repertoire of genes and protein interactions. A developmental picture is now emerging whereby UBE3A gene dosage on chromosome 15 alters synaptic function, with deficiencies leading to Angelman syndrome and overexpression associated with classic autism symptomatology.
publisher	Springer US
publishDate	2010
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3163993/
_version_	1611473171767099392

Angelman syndrome: advancing the research frontier of neurodevelopmental disorders

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