Article
Neurobehavioral and electroencephalographic abnormalities in Ube3a maternal-deficient mice.
Neurobiology of disease - 1 Mar 2002
Miura Kiyonori, Kishino Tatsuya, Li En, Webber Hayley, Dikkes Pieter, Holmes Gregory L, Wagstaff Joseph
Abstract excerpt
Angelman syndrome (AS), characterized by motor dysfunction, mental retardation, and seizures, is caused by several genetic etiologies involving chromosome 15q11-q13, including mutations of the UBE3A gene. UBE3A encodes UBE3A/E6-AP, a ubiquitin-protein ligase, and shows brain-specific imprinting, with brain expression predominantly from the maternal allele. Lack of a functional maternal allele of UBE3A causes AS....
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