Article

A de novo missense mutation in synaptotagmin-1 associated with neurodevelopmental disorder desynchronizes neurotransmitter release

2023-01-05

Abstract excerpt

<title>Abstract</title> <p>Synaptotagmin-1 (Syt1) is a presynaptic calcium sensor with two calcium binding domains, C2A and C2B, that triggers action potential-induced synchronous neurotransmitter release, while suppressing asynchronous and spontaneous release. We identified a <italic>de novo</italic> missense mutation (P401L) in the C2B domain in a patient with developmental delay and autistic symptoms. Expressi...

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Literature Corpus work: df455827-eaf9-5183-833d-a9ac4fd4a7e0
DOI: 10.21203/rs.3.rs-2260701/v1

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