Article

Delineation of the pathogenic presynaptic mechanisms of synaptotagmin-1 variants

2023-10-29

Abstract excerpt

<h4>ABSTRACT</h4> Missense variants in the presynaptic calcium sensor synaptotagmin-1 (SYT1) are associated with an autosomal dominant neurodevelopmental disorder (NDD). These cause dominant-negative impairment of evoked neurotransmitter release in a mutation-specific manner; however, whether NDD-associated variants also perturb the auxiliary functions of SYT1 remains unknown. We investigated whether the expressi...

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Literature Corpus work: cc66b26d-ebbc-5ba7-be1c-31b3eb9262ce
DOI: 10.1101/2023.10.29.564558

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