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Understanding the Pathogenesis of Angelman Syndrome through Animal Models
Author
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-07-08
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by severe mental retardation, lack of speech, ataxia, susceptibility to seizures, and unique behavioral features such as easily provoked smiling and laughter and autistic features.
The disease is primarily caused by deletion or loss-of-function mutations of the maternally inherited UBE3A gene located within chromosome 15q11-q13.
The UBE3A gene encodes a 100 kDa protein that functions as ubiquitin ligase and transcriptional coactivator.
Emerging evidence now indicates that UBE3A plays a very important role in synaptic function and in regulation of activity-dependent synaptic plasticity.
A number of animal models for AS have been generated to understand the disease pathogenesis.
The most widely used model is the UBE3A-maternal-deficient mouse that recapitulates most of the essential features of AS including cognitive and motor abnormalities.
This paper mainly discusses various animal models of AS and how these models provide fundamental insight into understanding the disease biology for potential therapeutic intervention.
American Psychological Association (APA)
Jana, Nihar Ranjan. 2012. Understanding the Pathogenesis of Angelman Syndrome through Animal Models. Neural Plasticity،Vol. 2012, no. 2012, pp.1-10.
https://search.emarefa.net/detail/BIM-1002448
Modern Language Association (MLA)
Jana, Nihar Ranjan. Understanding the Pathogenesis of Angelman Syndrome through Animal Models. Neural Plasticity No. 2012 (2012), pp.1-10.
https://search.emarefa.net/detail/BIM-1002448
American Medical Association (AMA)
Jana, Nihar Ranjan. Understanding the Pathogenesis of Angelman Syndrome through Animal Models. Neural Plasticity. 2012. Vol. 2012, no. 2012, pp.1-10.
https://search.emarefa.net/detail/BIM-1002448
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1002448