CDKL5
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Dysfunctional synaptic vesicle recycling – links to epilepsy
Accurate and synchronous neurotransmitter release is essential for brain communication and occurs when neurotransmitter-containing synaptic vesicles (SVs) fuse to release their content in response to neuronal activity. Neurotransmission is sustained by the process of SV recycling, which generates SVs locally at the presynapse. Until relatively recently it was believed that most mutations in genes that were essential for SV recycling would be incompatible with life, due to this fundamental role. However, this is not the case, with mutations in essential genes for SV fusion, retrieval and recycling identified in individuals with epilepsy. This seminar will cover our laboratory’s progress in determining how genetic mutations in people with epilepsy translate into presynaptic dysfunction and ultimately into seizure activity. The principal focus of these studies will be in vitro investigations of, 1) the biological role of these gene products and 2) how their dysfunction impacts SV recycling, using live fluorescence imaging of genetically-encoded reporters. The gene products to be discussed in more detail will be the SV protein SV2A, the protein kinase CDKL5 and the translation repressor FMRP.
CDKL5: A novel regulator of the post-synaptic complex at the inhibitory synapse
FENS Forum 2024
Interrogating CDKL5 deficiency disorder using human iPSCs-derived cerebral organoids
FENS Forum 2024
Morphological and functional characterization of a CDKL5 mutant zebrafish line
FENS Forum 2024
The role of the X-linked cyclin dependent kinase like 5 (CDKL5) gene in extracellular vesicle-mediated cell-to-cell communication
FENS Forum 2024
CDKL5 coverage
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