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Article Abstract
(), a risk gene for autism spectrum disorders (ASDs), is implicated in telencephalon development. Because AUTS2 is also expressed in the cerebellum where defects have been linked to ASDs, we investigated AUTS2 functions in the cerebellum. AUTS2 is specifically localized in Purkinje cells (PCs) and Golgi cells during postnatal development. conditional knockout (cKO) mice exhibited smaller and deformed cerebella containing immature-shaped PCs with reduced expression of . cKO and knock-down experiments implicated AUTS2 participation in elimination and translocation of climbing fiber synapses and restriction of parallel fiber synapse numbers. cKO mice exhibited behavioral impairments in motor learning and vocal communications. Because is known to regulate synapse development in PCs, it suggests that AUTS2 is required for PC maturation to elicit normal development of PC synapses and thus the impairment of may cause cerebellar dysfunction related to psychiatric illnesses such as ASDs.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708818 | PMC |
| http://dx.doi.org/10.1016/j.isci.2020.101820 | DOI Listing |
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