{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n INSYN2A is a gene that lies within a minimal critical region of the 10q26.2 microdeletion syndrome and has been implicated in cognitive function. In patients harboring deletions of this region, haploinsufficiency of INSYN2A along with a few other coding genes is associated with dysmorphic features and mild intellectual disability, suggesting a role in neurodevelopment and cognitive processes."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Although its precise molecular function is not yet fully elucidated, INSYN2A likely contributes to the formation, stabilization, or modulation of inhibitory synapses—structures essential for dampening neuronal excitability and maintaining network balance. Supporting this view, recent proteomic studies that deploy in vivo proximity labeling have uncovered a broader family of inhibitory synapse–associated proteins whose disruption leads to reduced postsynaptic inhibitory sites and altered neuronal firing."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": " Collectively, these findings suggest that INSYN2A may participate in the assembly or functional regulation of inhibitory postsynaptic complexes, thereby influencing cognitive outcomes and possibly contributing to neurodevelopmental disorders. Further integrative studies incorporating genomic, proteomic, and functional methodologies are warranted to clarify the molecular interactions and pathways in which INSYN2A is involved.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Florian Cherik, Mathis Lepage, Ganaelle Remerand, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2021.104287"}], "href": "https://doi.org/10.1016/j.ejmg.2021.104287"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34252586"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34252586"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Akiyoshi Uezu, Daniel J Kanak, Tyler W A Bradshaw, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of an elaborate complex mediating postsynaptic inhibition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Science (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1126/science.aag0821"}], "href": "https://doi.org/10.1126/science.aag0821"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27609886"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27609886"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Shuo Han, Jiefu Li, Alice Y Ting "}, {"type": "b", "children": [{"type": "t", "text": "Proximity labeling: spatially resolved proteomic mapping for neurobiology."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Opin Neurobiol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.conb.2017.10.015"}], "href": "https://doi.org/10.1016/j.conb.2017.10.015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29125959"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29125959"}]}]}]}