PMC:4067558 / 40832-41655 JSONTXT

{"project":"2_test","denotations":[{"id":"24768552-23235829-2047152","span":{"begin":503,"end":505},"obj":"23235829"},{"id":"24768552-20702695-2047153","span":{"begin":544,"end":546},"obj":"20702695"},{"id":"24768552-20071534-2047153","span":{"begin":544,"end":546},"obj":"20071534"},{"id":"24768552-9700168-2047154","span":{"begin":821,"end":823},"obj":"9700168"}],"text":"In addition to underlining important pathways, our results highlight specific genes in ASD risk. Whereas the majority of the 97 genes in the CNV or SNV network (not including the genes already known to be involved in ASD) most likely act via haploinsufficiency, a few are affected by duplications. One example is the duplication of PIK3CB (MIM 602925), which is likely to increase its expression and thus lead to excessive phosphatidylinositol 3-kinase (PI3K) activity. PI3K, which is regulated by FMRP,59 is elevated in FXS mouse knockouts,62,63 and downregulation of this pathway has been shown to have therapeutic effect in ASD and FXS mouse models. RAC3 (MIM 602050), another example of a gene affected by duplication, encodes a Rho family GTPase that enhances neuritogenesis and neurite branching when overexpressed.64"}