Angelman syndrome (AS) is a severe neurological disorder characterized by mental retardation, motor dysfunction and epilepsy. We show that the molecular and cellular deficits of an AS mouse model can be rescued by introducing an additional mutation at the inhibitory phosphorylation site of αCaMKII. Moreover, these double mutants no longer show the behavioral deficits seen in AS mice, suggesting that these deficits are the direct result of increased inhibitory phosphorylation of αCaMKII.

dx.doi.org/10.1038/nn1845, hdl.handle.net/1765/36689
Nature Neuroscience
Erasmus MC: University Medical Center Rotterdam

van Woerden, G.M, Hahn-Zoric, M, Hojjati, M.R, Gustin, R.M, Qiu, S, de Avila Freire, R, … Weeber, E.J. (2007). Rescue of neurological deficits in a mouse model for Angelman syndrome by reduction of αCaMKII inhibitory phosphorylation. Nature Neuroscience, 10(3), 280–282. doi:10.1038/nn1845