Molecular and functional studies of the unconventional RabGAP TBC1D24, a protein that connects epilepsy to the regulation of synaptic function KU Leuven
Defects in synaptic vesicle trafficking are moving to the center stage of epilepsy research, and mutations in TBC1D24 were recently shown to cause epilepsy and DOORS syndrome. TBC1D24 encodes a protein that we connected to the regulation of protein turnover at presynaptic terminals, a process dependent on vesicle trafficking. However, how pathogenic mutations affect TBC1D24 function is enigmatic. In addition, no strategies to mitigate the ...