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. 2013 Oct 31;7:75. doi: 10.3389/fnsys.2013.00075

Figure 1.

Figure 1

Several NDD-associated genes function at the synapse. Monogenic NDD genes (red) expressed in the synapse, illustrated here postsynaptically, mediate spine morphology changes via small GTPase-mediated signaling pathways and F-actin in response to synaptic activation via BDNF and glutamatergic excitation. Abbreviations: 4EBP1, eukaryotic translation initiation factor 4E-binding protein 1; AMPA, 2-amino-3-(3-hydroxy-5-methyl-isoxazol-4-yl) propanoic acid receptor; Cdc42, cell division cycle 42; CYFIP, cytoplasmic binding partner of fragile X protein; eIF4E, eukaryotic translation initiation factor 4E; FMRP, fragile X mental retardation protein; LimK1, LIM domain kinase 1; mGluR5 metabotropic glutamate receptor subunit 5; mTOR1, mammalian target of rapamycin 1; NMDA, N-Methyl-D-aspartic acid or N-Methyl-D-aspartate Receptor; OPHN1, oligophrenin-1; PAK, P21-activated kinase; Rac1, ras-related C3 botulinum toxin substrate; Rheb, Ras homolog enriched in brain; RhoA, ras homolog gene family, member A; TrkB, TrkB tyrosine kinase; Tsc 1, tuberous sclerosis protein 1; Tsc 2, tuberous sclerosis protein 2.