Science for Health
Our main line of research concerns the study of proteins involved in neurodegenerative processes of the central nervous system, with the ultimate aim of understanding the causes of pathology and developing new theurapeutic strategies. We are addressing the problem by studying the function/structure relationship of the non-pathologic forms of the proteins involved, and by investigating the mechanisms which lead to neurodegeneration, such as protein misfolding, aggregation, and misfunctioning.
The families of diseases we focus on involve dominant and recessive ataxias, such as Joseph-Machado disease and Friedreich’s ataxia. We are also investigating the bases of intelligence through studying what leads to Fragile X mental retardation syndrome.
To carry out our studies, we use biophysical, biochemical, and bioinformatics techniques, which range from different spectroscopies, calorimetry, molecular dymamics and comparative modelling. We use advanced Nuclear Magnetic Resonance techniques to determine the structure and dynamics of the protein we are interested in.
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The structure of frataxin and a model of its cellular role. Frataxin is an iron dependent inhibitor of the enzymatic activity of the desulphurase IscS, the protein responsible for formation of iron sulfur cluster formation on the transient acceptor IscU.
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