| Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP. | |
| | |
MedLine Citation:
|
PMID: 19617463 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Charles Williams |
Related Documents
:
|
2004723 - Electrooculography and discriminant analysis in duane's syndrome and sixth-cranial-nerv... 8580953 - The effects of functional knee braces on speed in collegiate basketball players. 2003293 - Babinski-nageotte syndrome on magnetic resonance imaging. |
Publication Detail:
|
Type: Congresses |
Journal Detail:
|
Title: Journal of child neurology Volume: 24 ISSN: 1708-8283 ISO Abbreviation: J. Child Neurol. Publication Date: 2009 Jul |
Date Detail:
|
Created Date: 2009-07-20 Completed Date: 2009-10-06 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 8606714 Medline TA: J Child Neurol Country: United States |
Other Details:
|
Languages: eng Pagination: 904-8 Citation Subset: IM |
Affiliation:
|
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA. willicx@peds.ufl.edu |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Angelman Syndrome
/
drug therapy,
genetics*,
physiopathology Animals Animals, Genetically Modified Brain / pathology, physiopathology Cell Death Drug Design Humans MicroRNAs Neuronal Plasticity Proteasome Endopeptidase Complex / physiology RNA, Messenger / metabolism Signal Transduction Stress, Physiological / physiology Synapses / physiology Ubiquitin / metabolism Ubiquitin-Protein Ligases / genetics*, metabolism* |
| Chemical | |
Reg. No./Substance:
|
0/MicroRNAs; 0/RNA, Messenger; 0/UBE3A protein, human; 0/Ubiquitin; EC 3.4.25.1/Proteasome Endopeptidase Complex; EC 6.3.2.19/Ubiquitin-Protein Ligases |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Posterior Cerebral Artery Occlusion After Mycoplasma pnuemoniae Infection Associated With Genetic De...
Next Document: Population pharmacokinetics of golimumab, an anti-tumor necrosis factor-alpha human monoclonal antib...