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Understanding the Pathogenesis of Angelman Syndrome through Animal Models

التفاصيل البيبلوغرافية
العنوان: Understanding the Pathogenesis of Angelman Syndrome through Animal Models
المؤلفون: Nihar Ranjan Jana
المصدر: Neural Plasticity, Vol 2012 (2012)
بيانات النشر: Hindawi Limited, 2012.
سنة النشر: 2012
المجموعة: LCC:Neurosciences. Biological psychiatry. Neuropsychiatry
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
الوصف: 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.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2090-5904
1687-5443
العلاقة: https://doaj.org/toc/2090-5904Test; https://doaj.org/toc/1687-5443Test
DOI: 10.1155/2012/710943
الوصول الحر: https://doaj.org/article/17912f3591c649659cf50e4e22974682Test
رقم الانضمام: edsdoj.17912f3591c649659cf50e4e22974682
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20905904
16875443
DOI:10.1155/2012/710943