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Fig. 1. Molecular pathways implicated in neurodevelopmental disorders. RTKs, receptor tyrosine kinases; iGluRs, metabotropic glutamate receptors; PGC-1α, peroxisome proliferator-activated receptor gamma coactivator 1-alpha; SREBP, sterol regulatory element-binding proteins; HIF1α, hypoxia-inducible factor 1 alpha; ULK1, unc-51-like kinase 1; ARC, activity-regulated cytoskeleton-associated protein; UBE3A, ubiquitin protein ligase E3A; MeCP2, methyl CpG binding protein 2; FMRP, fragile X mental retardation protein; PI3K/mTOR , phosphatidylinositol 3-kinase/mammalian target of rapamycin; PSD-95, postsynaptic density protein 95; CNTNAP2, Contactin-associated protein-like 2; NF1, neurofibromin 1; PLCβ, Abstract Phospholipase C β; SYNGAP1, Synaptic Ras GTPase-activating protein 1; ERK1/2, extracellular signal-regulated kinase; PTEN, Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase; PDK1, Pyruvate dehydrogenase lipoamide kinase isozyme 1; PKC, Paroxysmal kinesogenic choreoathetosis, neurological disorder Protein kinase C; AKT, Protein kinase B; AMPK, AMP-activated protein kinase; TSC2, Tuberous Sclerosis Complex 2; TSC1, tuberous sclerosis 1; RHEB, GTP-binding protein Rheb; DEPDC5, DEP domain-containing 5; mTORC1, mammalian target of rapamycin complex 1; mGluR, metabotropic glutamate receptor; SHANK, Shank protein; ATG13, Autophagy-related protein 13; HDAC, Histone deacetylases; CHD8, Chromodomain-helicase-DNA-binding protein 8; MEF2, myocyte enhancer factor-2; RAS, Ras protein; TBC1D7, TBC1 domain family, Member 7; 4E-BPs, eIF4E-binding proteins; FIP200, a ULK-interacting protein; S6K1/2, Anti-RIBOSOMAL S6 KINASE 1/2; HOMER, homer scaffolding protein; RAGA/B, Ras-related GTP binding A/B ortholog; RAGC/D, Ras-related GTP binding C/D ortholog. From M. Sahin and M. Sur, Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders, Science 350, aab3897 (2015). DOI: 10.1126/science.aab3897. Reprinted with permission from The American Association for the Advancement of Science (AAAS).
Exp Neurobiol 2015;24:257~272
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