Tissue-specific variation of Ube3a protein expression in rodents and in a mouse model of Angelman syndrome

Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression or mutation-induced dysfunction of its protein product, the E3 ubiquitin–protein ligase, UBE3A. In humans and rodents, UBE3A/Ube3a transcript is maternally imprinted in several brain regions, but the distri...

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Principais autores:	Richard M. Gustin, Terry Jo Bichell, Michael Bubser, Jennifer Daily, Irina Filonova, Davit Mrelashvili, Ariel Y. Deutch, Roger J. Colbran, Edwin J. Weeber, Kevin F. Haas
פורמט:	Artigo
שפה:	Inglês
יצא לאור:	Elsevier 2010-09-01
סדרה:	Neurobiology of Disease
נושאים:	Angelman syndrome Ubiquitin Ubiquitin ligase E6-AP Ube3a Genetic imprinting
גישה מקוונת:	http://www.sciencedirect.com/science/article/pii/S0969996110001282
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