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- W4220826422 abstract "ABSTRACT The majority of autism spectrum disorder (ASD) risk genes are associated with ASD due to haploinsufficiency, where only one gene copy is functional. Here, using SCN2A haploinsufficiency, a major risk factor for ASD, we show that increasing the expression of the existing functional SCN2A allele with CRISPR activation (CRISPRa) can provide a viable therapeutic approach. We first demonstrate therapeutic potential by showing that restoring Scn2a expression in adolescent heterozygous Scn2a conditional knock-in mice rescues electrophysiological deficits associated with Scn2a haploinsufficiency. Next, using an rAAV-CRISPRa based treatment, we restore electrophysiological deficits in both Scn2a heterozygous mice and human stem-cell-derived neurons. Our results provide a novel therapeutic approach for numerous ASD-associated genes and demonstrate that rescue of Scn2a haploinsufficiency, even at adolescent stages, can ameliorate neurodevelopmental phenotypes." @default.
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- W4220826422 date "2022-04-01" @default.
- W4220826422 modified "2023-09-30" @default.
- W4220826422 title "CRISPR activation rescues abnormalities in <i>SCN2A</i> haploinsufficiency-associated autism spectrum disorder" @default.
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- W4220826422 doi "https://doi.org/10.1101/2022.03.30.486483" @default.
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