Article
Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.
The Journal of clinical investigation - 1 May 2015
Silva-Santos Sara, van Woerden Geeske M, Bruinsma Caroline F, Mientjes Edwin, Jolfaei Mehrnoush Aghadavoud, Distel Ben, Kushner Steven A, Elgersma Ype
Abstract excerpt
Angelman syndrome (AS) is a severe neurodevelopmental disorder that results from loss of function of the maternal ubiquitin protein ligase E3A (UBE3A) allele. Due to neuron-specific imprinting, the paternal UBE3A copy is silenced. Previous studies in murine models have demonstrated that strategies to activate the paternal Ube3a allele are feasible; however, a recent study showed that pharmacological Ube3a gene...
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