Achucarro Seminars

21 May [2021]

at 13.00 CET

Presynaptic dysfunction and neurodegeneration

Rafael Fernández-Chacón

Universidad de Sevilla (Spain)


Synapses are plastic structures that properly support the operation of neural circuits from birth to senility. Our laboratory investigates the molecular mechanisms underlying the maintenance of synapses along the time in the mammalian brain. DNAJC5/Cysteine String Protein (CSPa) is a DNAJ-containing synaptic vesicle protein that, as a co-chaperone, prevents presynaptic degeneration. In humans, mutations in the DNAJC5 gene, cause autosomal-dominant adult onset neuronal ceroid lipofuscinosis (NCL4) that leads to seizures and early death in young adults. We have previously shown that DNAJC5/CSPa KO mice undergo early lethality within 1-2 months postnatally. Interestingly, in the absence of DNAJC5/CSPa, neurons operating at high firing rates, such as parvalbumin-positive (PV+) interneurons suffer from activity-dependent presynaptic degeneration. In my talk I will discuss about our specific work on PV+ interneurons and on our progress to model NCL4 in mice.  

Currently we are hosting our seminar in Zoom. The link is available to external people on request.


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