Figure 1.

Phosphatase and tensin homolog (PTEN) structure and canonical phosphatidylinositol 3-phosphate kinase (PI3K)/PTEN signaling cascade. (A) Schematic representation of PTEN protein domains, together with the localization of germline missense mutations associated with ASD, developmental delay, and mental retardation (for a review, see Spinelli et al. 2015). Additional missense mutations not shown in the scheme: M1I, K6I/E. (B) Canonical PI3K/PTEN signaling cascade. Activating phosphorylation is depicted in green, and inhibitory phosphorylation is depicted in red. Dashed lines denote multiple steps.