Article
Maternal disruption of Ube3a leads to increased expression of Ube3a-ATS in trans.
Nucleic acids research - 1 Jan 2005
Landers Miguel, Calciano Margaret A, Colosi Dan, Glatt-Deeley Heather, Wagstaff Joseph, Lalande Marc
Abstract excerpt
Angelman syndrome (AS) is a neurogenetic disorder characterized by severe mental retardation, 'puppet-like' ataxic gait with jerky arm movements, seizures, EEG abnormalities, hyperactivity and bouts of inappropriate laughter. Individuals with AS fail to inherit a normal active maternal copy of the gene encoding ubiquitin protein ligase E3A (UBE3A). UBE3A is transcribed predominantly from the maternal allele in...
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