Rafael Fernández-chacón
European neuroscience institute
Network of European Neuroscience Institutes (ENI-NET)
Spain
Biography
Professor Rafael Fernández-Chacón Instituto de Biomedicina de Sevilla (IBiS) – The Neuroscience Institute at Seville
Research Interest
Our group studies the molecular mechanisms that maintain synaptic function and synaptic structure . A major goal in our lab is to elucidate the role of Cysteine String Protein-alpha (CSP-alpha), a molecular co-chaperone located at the synaptic vesicles that prevents synaptic degeneration. A clinical scope of our studies comes from a recent finding of mutations in the human gene coding for CSP-alpha (DNAJC5) causing autosomal-dominant adult-onset neuronal ceroid lipofuscinosis (NCL4), a devastating neurodegenerative disease in young adults. We are currently generating new mouse lines baring those mutations in order to develop NCL-4 mouse models. Our laboratory routinely uses molecular and cell biology, mouse genetics and patch-clamp electrophysiology in brain slices and in neuronal cultures to monitor synaptic activity and pHluorin based markers to image the synaptic vesicle cycle.