Abstract:
:The E3 ubiquitin ligase UBE3A, also known as E6-AP, has a multitude of ascribed functions and targets relevant to human health and disease. Epigenetic regulation of the UBE3A gene by parentally imprinted noncoding transcription within human chromosome 15q11.2-q13.3 is responsible for the maternal-specific effects of 15q11.2-q13.3 deletion or duplication disorders. Here, we review the evidence for diverse and emerging roles for UBE3A in the proteasome, synapse and nucleus in regulating protein stability and transcription as well as the current mechanistic understanding of UBE3A imprinting in neurons. Angelman and Dup15q syndromes as well as experimental models of these neurodevelopmental disorders are highlighted as improving understanding of UBE3A and its complex regulation for improving therapeutic strategies.
journal_name
Epigenomicsjournal_title
Epigenomicsauthors
LaSalle JM,Reiter LT,Chamberlain SJdoi
10.2217/epi.15.70subject
Has Abstractpub_date
2015-10-01 00:00:00pages
1213-28issue
7eissn
1750-1911issn
1750-192Xjournal_volume
7pub_type
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