Figure 1
From: Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder
A model of TSC/mTORC1 signaling pathway at the neuronal synapse. Tuberin (TSC2) and hamartin (TSC1) act as central players in mTORC1 signaling to regulate neuronal/synaptic activity. Neurotrophic (NT) factors such as BDNF, as well as synaptic activity initiate mTORC1 signaling via receptors (Rc) including neurotrophic Rc and glutamate receptors including NMDA Rc and mGluR Rc. The mTOR candidate genes resequenced in the study are shown in red. Ub, ubiquitin; P, phosphorylation.