About
Positions
PhD student Oct 2020 -
Research fellow Nov 2019 - Sep 2020
Prof. Dr. Mariarita Bertoldi, University of Verona
Production and biochemical characterization of enzymes involved in rare autosomal recessive diseases, namely AADC deficiency and SSADH deficiency.
AADC (aromatic amino acid decarboxylase, also called DDC, dopa decarboxylase) is a PLP (pyridoxal-5'-phosphate) dependent enzyme responsible for the production of dopamine and serotonin in our brain.
SSADH (succinic semialdehyde dehydrogenase) is involved in the breakdown of GABA in our brain, in particular it is responsible for the oxydation of succinic semialdehyde to succinic acid, using NAD+ as a cofactor. Succinic semialdehyde is the product of the first step of GABA degradation, catalyzed by GABA transaminase.
Both of the diseases are characterized by mutations on the gene encoding for the respective enzyme. There are different genotypes for each disease, therefore there are different enzymatic and clinic phenotypes. This is the reason why both the severity of symptoms and the response to therapy vary.
Our aim is to characterize pathogenetic enzymatic phenotypes and correlate them to the clinical phenotypes in order to suggest personalized treatment, predict the impact of the mutation on the basis of the hit position and possibly pave the way for new therapeutic strategies.
Recombinant human proteins are expressed in heterologous system (E.coli). After a thorough biochemical carachterization of the wild-type species, I perform structural and functional characterization of the pathogenetic mutants to evaluate their molecular defect.
Education
University of Padua, Italy 2013 - 2019
Degree: Chemistry and Pharmaceutical Techniques