2024年12月25日 · SYT1 (Synaptotagmin 1) is a Protein Coding gene. Diseases associated with SYT1 include Baker-Gordon Syndrome and Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome. Among its related pathways are Neurotransmitter release cycle and Uptake and actions of bacterial toxins.

2017年12月11日 · Synaptotagmin-1 (Syt1) controls synaptic vesicle–membrane attachment activities via its C2B domain.

2018年9月1日 · Synaptotagmin 1 (SYT1) is a critical mediator of fast, synchronous, calcium-dependent neurotransmitter release and also modulates synaptic vesicle endocytosis. This paper describes 11 patients with de novo heterozygous missense mutations in SYT1.

2023年7月11日 · Here we show that conditional deletion of the calcium sensor synaptotagmin-1 (Syt1) in DA neurons (Syt1 cKO DA mice) abrogates most activity-dependent axonal DA release in the striatum and...

2019年9月9日 · Syt1 is a Ca 2+ sensor for SV release that binds Ca 2+ via tandem C2-domains, C2A and C2B. Here, we first determined whether these C2-domains execute distinct functions.

Baker-Gordon Syndrome (BAGOS), also known as, SYT1-associated neurodevelopmental disorder (SYT1 Syndrome) is a rare genetic disorder caused by mutations in the Synaptotagmin-1 (SYT1) gene. SYT1 is a vital protein that regulates the triggering of …

At neuronal synapses, synaptotagmin-1 (syt1) acts as a Ca2+ sensor that synchronizes neurotransmitter release with Ca2+ influx during action potential firing. Heterozygous missense mutations in syt1 have recently been associated with a severe but ...

2023年12月6日 · Our findings demonstrate that the coupling of SV exocytosis and endocytosis involves local Synaptotagmin 1-induced lipid signaling to maintain presynaptic membrane homeostasis in central nervous system neurons.

2024年3月5日 · Clinical resource with information about SYT1, Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome, Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population., and available tests.

2022年5月5日 · Here, we show that synaptotagmin-1 (Syt1), the primary Ca 2+ sensor initiating exocytosis, plays bidirectional and opposite roles in exocytosis–endocytosis coupling by promoting slow, small-sized clathrin-mediated endocytosis but …