Our research interests focus on the molecular mechanisms that govern neuronal homeostasis and on the pathways that are deregulated in brain diseases, especially in Parkinson’s disease and in rare hereditary neurodegenerative disorders, such as neuronopathic Gaucher disease and Hereditary Spastic Paraplegia. In particular, we are interested in the role of the glucocerebrosidases GBA1 and GBA2, which are key regulators of the metabolism of glucosylceramides and glucosylcholesterol, in healthy neurons and in the etiology of these diseases. The impact of mutated GBA1 and GBA2 on the function of lysosomes, mitochondria and other organelles, as well as the dyshomeostasis of the substrates and products of these enzymes are currently investigated, to understand how they can alter the overall neuronal function. To this aim we employ biochemistry, cell biology and fluorescence and TEM imaging methods, and a range of cellular and animal models, including patient-derived fibroblasts and iPSC-derived cells, and mice and zebrafish models carrying disease-associated mutations. The final goal of our research is to understand how neuronal homeostasis is maintained, to identify novel therapeutic approaches for these devastating and incurable disorders.

1) Evaluation of the molecular mechanisms at the basis of organelle dysfunction in neurodegenerative disorders associated to defective glucocerebrosidases.
(Master Students in Molecular Biology, Biologia Sanitaria, Biotechnology and similar).

2) Machine-learning based models for the analysis of organelles and neurons in confocal and TEM images (in collaboration with Prof. Sales).
(Master Students in Quantitative and Computational Biosciences)

3) Study on the importance of the homeostasis of glucosylsterols in healthy and disease neurons.
(Master Students in Molecular Biology, Biologia Sanitaria, Biotechnology and similar).