Article
Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis.
Nature neuroscience - 1 Dec 2023
Birtele Marcella, Del Dosso Ashley, Xu Tiantian, Nguyen Tuan, Wilkinson Brent, Hosseini Negar, Nguyen Sarah, Urenda Jean-Paul, Knight Gavin, Rojas Camilo, Flores Ilse, Atamian Alexander, Moore Roger, Sharma Ritin, Pirrotte Patrick, Ashton Randolph S, Huang Eric J, Rumbaugh Gavin, Coba Marcelo P, Quadrato Giorgia
Abstract excerpt
Genes involved in synaptic function are enriched among those with autism spectrum disorder (ASD)-associated rare genetic variants. Dysregulated cortical neurogenesis has been implicated as a convergent mechanism in ASD pathophysiology, yet it remains unknown how 'synaptic' ASD risk genes contribute to these phenotypes, which arise before synaptogenesis. Here, we show that the synaptic Ras GTPase-activating...
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