Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.

@article{SilvaSantos2015Ube3aRI,
  title={Ube3a reinstatement identifies distinct developmental windows in a murine Angelman syndrome model.},
  author={Sara Silva-Santos and G. V. van Woerden and Caroline F. Bruinsma and E. Mientjes and Mehrnoush Aghadavoud Jolfaei and B. Distel and S. Kushner and Y. Elgersma},
  journal={The Journal of clinical investigation},
  year={2015},
  volume={125 5},
  pages={
          2069-76
        }
}
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 reactivation in adulthood failed to rescue the majority of neurocognitive phenotypes… Expand
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