TBC1D24. Yes, our last blog post regarding TBC1D24 was published in 2015, but that doesn’t mean we aren’t still thinking about this elusive gene and its wide phenotypic spectrum. Today we provide an update from Joeylynn – a new research coordinator in the Helbig lab, a health care provider, co-creator of the TBC1D24 Family Foundation, and most importantly, the mother of a child with TBC1D24
Monthly Archives: May 2023
SNAREopathies in epilepsies and neurodevelopmental disorders
SNARE complex. This is the first post in our series on SNAREopathies – an umbrella term for diseases caused by variants in the soluble NSF attachment protein receptor (SNARE) complex, that is essential for neuronal synaptic vesicle exocytosis in the presynapse. The core SNARE complex comprises a four-helix bundle consisting of two SNAP25 helices, which is encoded by SNAP25, the syntaxin 1 helix encoded by STX1A/STX1B, and the synaptobrevin 2 helix encoded by VAMP2. The complex is regulated by different proteins including MUNC18 encoded by STXBP1, MUNC13 encoded by UNC13A, and synaptotagmin encoded by SYT1 and complexins. Here is an overview of SNAREopathies, with a focus in this post on SNAP25 and VAMP2.
