Rescue of neurological deficits in a mouse model for Angelman Syndrome by reduction of αCaMKII inhibitory phosphorylation
Angelman Syndrome (AS) is a severe neurological disorder characterized by mental retardation, motor dysfunction and epilepsy. We now 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 do no longer show the behavioral deficits seen in AS mice, suggesting that these deficits are the direct result of increased αCaMKII inhibitory phosphorylation.
|Keywords||Angelman syndrome, CaMK2|
van Woerden, G.M., Harris, K.D., 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. Retrieved from http://hdl.handle.net/1765/9252