synaptotagmin

Developmental disorders of presynaptic vesicle cycling - Synaptotagmin-1 and beyond

Post-diagnostic research on rare genetic developmental disorders presents new opportunities (and a few challenges) for discovery neuroscience and translation. In this talk, Kate will describe and discuss neurodevelopmental phenotypes arising from rare, high penetrance genomic variants which directly influence pre-synaptic vesicle cycling (SVC disorders). She will focus on Synaptotagmin-1 Associated Neurodevelopmental Disorder (also known as Baker Gordon Syndrome), first described in 2015 and now diagnosed in more than 50 children and young people worldwide. She will then present work-in-progress by her group on the neurodevelopmental spectrum of SVC disorders more broadly, and discuss opportunities for collaborative neuroscience which can bridge the gaps between genetic cause and complex neurological, cognitive and mental health outcomes.

Rescuing locomotor deficits in an ALS mouse model by Extended Synaptotagmin 1 (ESYT1) overexpression

Computational Modelling Framework To Study Ca2+ Activation of Synaptic Vesicle Fusion by Different Synaptotagmin Isoforms

Quantifying the synaptic calcium-binding kinetics of Synaptotagmin-1, the calcium sensor for transmitter release in the forebrain

Synaptotagmin-11 controls GABAB receptor internalization

Distinct functions of synaptotagmin-1 and -7 in neurotransmitter release

FENS Forum 2024