Missense mutations of methyl-CpG-binding protein 2 (MECP2) in the vicinity of its threonine T308 phosphorylation site can negatively affect the ability of MECP2 to be phosphorylated at T308 in response to neuronal membrane depolarization (neuronal activity) (Ebert et al. 2013).
Ebert, DH, Gabel, HW, Robinson, ND, Kastan, NR, Hu, LS, Cohen, S, Navarro, AJ, Lyst, MJ, Ekiert, R, Bird, AP, Greenberg, ME
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