Dataset Information
Identification of Syngap1 from Brain Organoids
Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion Lumos
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Brain
SUBMITTER: 
Krystine Mansfield
LAB HEAD: Patrick Pirrotte
PROVIDER: PXD034090 | Pride | 2024-09-16
REPOSITORIES: pride
Dataset's files
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Publications
Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis.
Nature neuroscience 20231109 12
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 (RASGAP) protein 1 (SYNGAP1, a top ASD risk gene) is expressed within the apical domain of ...[more]
