TopicNeuroscience

CDKL5

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20Total items

19ePosters

1Seminar

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SeminarNeuroscience

Dysfunctional synaptic vesicle recycling – links to epilepsy

Mike Cousin

University of Edinburgh

Dec 1, 2021

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

Latest

Dysfunctional synaptic vesicle recycling – links to epilepsy

DECODING THE OXYTOCIN PATHWAY IN CDKL5-DEFICIENCY DISORDER ​MOUSE MODEL

ALTERED GRANULE DYNAMICS OF CDKL5 DEFICIENCY DURING DEVELOPMENT

HEMATOPOIETIC STEM CELL–MEDIATED DELIVERY OF A SECRETABLE CDKL5 PROTEIN RESCUES NEUROLOGICAL DEFICITS IN CDKL5 DEFICIENCY DISORDER

PHARMACOLOGICAL TREATMENT WITH SELICICLIB IMPROVES COGNITIVE AND NEUROANATOMICAL DEFECTS IN A MOUSE MODEL OF THE CDKL5 DEFICIENCY DISORDER

A NOVEL CDKL5 DEFICIENCY DISORDER MOUSE MODEL: CDKL5 R550X KNOCK-IN MOUSE MODEL

LOSS OF CDKL5 ALTERS ENTERIC NERVOUS SYSTEM ORGANIZATION AND INTESTINAL FUNCTION IN A MOUSE MODEL OF CDKL5 DEFICIENCY DISORDER

CDKL5 LOSS ENHANCES INHIBITORY SYNAPTIC FUNCTION AND INTERNEURON EXCITABILITY VIA NON-L-TYPE VGCCS, DRIVING AN EXCITATORY E/I SHIFT IN SOMATOSENSORY CORTEX

PHOSPHORYLATING THE POSTSYNAPTIC SCAFFOLD: CDKL5 ORCHESTRATES SHANK1–HOMER1BC ASSEMBLY TO SHAPE EXCITATORY SYNAPSES

EXPLORING THE ROLE OF CYCLIN-DEPENDENT KINASE-LIKE 5 (CDKL5) IN EXTRACELLULAR VESICLE-MEDIATED NEURONAL COMMUNICATION

EMOTIONAL CONTAGION AND AROUSAL DEFICITS IN CDKL5 DEFICIENCY DISORDER: INSIGHTS FROM PUPILLOMETRY AND OREXIN MODULATION

Morphological and functional characterization of a CDKL5 mutant zebrafish line

CDKL5’s role in microtubule-based transport and cognitive function

Primary sensory cortices of a mouse model of CDKL5 deficiency disorder show atypical myelination

Probiotic supplementation as a potential strategy of intervention to ameliorate clinical symptoms of the CDKL5 deficiency disorder

Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome : Effect on genes expression and genotype phenotype correlation

CDKL5: A novel regulator of the post-synaptic complex at the inhibitory synapse

Interrogating CDKL5 deficiency disorder using human iPSCs-derived cerebral organoids

CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility

The role of the X-linked cyclin dependent kinase like 5 (CDKL5) gene in extracellular vesicle-mediated cell-to-cell communication

DECODING THE OXYTOCIN PATHWAY IN CDKL5-DEFICIENCY DISORDER MOUSE MODEL