Delineation of the pathogenic presynaptic mechanisms of synaptotagmin-1 variants
Holly Melland, Kyla Venter, Stephanie L. Leech, Amy Ferreira, Elyas H. Arvell, Kate Baker, Sarah L. Gordon
This study investigates how SYT1 variants affect synaptic vesicle exocytosis and clarifies that defective evoked exocytosis is the main pathogenic mechanism of SYT1-associated neurodevelopmental disorders.
bioRxiv · Oct 29, 2023 · PreprintNeuroscience