کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6286843 | 1299093 | 2011 | 11 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
Angelman syndrome (AS) is a severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. In this review, we describe recent advances in understanding the expression and function of UBE3A in the brain and the etiology of AS. We highlight current AS model systems, epigenetic mechanisms of UBE3A regulation, and the identification of potential UBE3A substrates in the brain. In the process, we identify major gaps in our knowledge that, if bridged, could move us closer to identifying treatments for this debilitating neurodevelopmental disorder.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Trends in Neurosciences - Volume 34, Issue 6, June 2011, Pages 293-303
Journal: Trends in Neurosciences - Volume 34, Issue 6, June 2011, Pages 293-303
نویسندگان
Angela M. Mabb, Matthew C. Judson, Mark J. Zylka, Benjamin D. Philpot,