Article

CRISPR activation rescues abnormalities in <i>SCN2A</i> haploinsufficiency-associated autism spectrum disorder

2022-04-01

Abstract excerpt

<h4>ABSTRACT</h4> 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 ther...

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Literature Corpus work: 40be6450-20ae-5fb2-8fa6-b64956fdc299
DOI: 10.1101/2022.03.30.486483

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