Molecular and cellular mechanisms of neurodegenerative and neuromuscular diseases

This Unit is committed to the study of the molecular and cellular mechanisms of neurodegenerative/neuromuscular diseases (ND/NM-Ds) by multidisciplinary approaches, including the biochemical characterization of proteins in vitro, the use of yeast as an eukaryotic cell model system (e.g., to perform functional genetics and protein-protein interaction assays), and the use of mammalian cell cultures, also derived from genetically modified mice, to develop ex-vivo and in-vivo strategies.

Studies aim at establishing novel in-vitro and in-cell models for the study of ND/NM-Ds; identifying specific alterations of cellular homeostasis by proteins involved in ND/NM-Ds; analysing protein-protein interaction networks in ND/NM-Ds.



  • Alessandro BERTOLI - Assistant Professor
  • Raffaele LOPREIATO - Assistant Professor
  • Geppo SARTORI - Assistant Professor
  • Maria Lina MASSIMINO - C.N.R. Researcher
  • Fiorella TONELLO - C.N.R. Senior Scientist

Lab Members

  • Caterina PEGGION - Post-doctoral fellow

  Five recent publications

  1. Peggion C, Massimino ML, Stella R, Bortolotto R, Agostini J, Maldi A, Sartori G, Tonello F, Bertoli A, Lopreiato R (2021) Nucleolin Rescues TDP-43 Toxicity in Yeast and Human Cell Models. Front. Cell. Neurosci. 15, 625665. doi:10.3389/fncel.2021.625665.
  2. Peggion C, Massimino ML, Bonadio RS, Lia F, Lopreiato R, Cagnin S, Calì T, Bertoli A (2021) Regulation of Endoplasmic Reticulum-Mitochondria Tethering and Ca(2+) Fluxes by TDP-43 via GSK3β. Int. J. Mol. Sci. 22, 11853. doi: 10.3390/ijms222111853.
  3. Stella R, Bonadio RS, Cagnin S, Massimino ML, Bertoli A, Peggion C (2021) Perturbations of the Proteome and of Secreted Metabolites in Primary Astrocytes from the hSOD1(G93A) ALS Mouse Model. Int. J. Mol. Sci. 22, 7028. doi: 10.3390/ijms22137028.
  4. Peggion C, Stella R, Chemello F, Massimino ML, Arrigoni G, Cagnin S, Biancotto G, Franchin C, Sorgato MC, Bertoli A (2019) The Prion Protein Regulates Synaptic Transmission by Controlling the Expression of Proteins Key to Synaptic Vesicle Recycling and Exocytosis. Mol. Neurobiol. 56, 3420-3436. doi: 10.1007/s12035-018-1293-4.
  5. Massimino ML, Simonato M, Spolaore B, Franchin C, Arrigoni G, Marin O, Monturiol-Gross L, Fernández J, Lomonte B, Tonello F (2018) Cell surface nucleolin interacts with and internalizes Bothrops asper Lys49 phospholipase A2 and mediates its toxic activity. Sci. Rep. 8, 10619. doi: 10.1038/s41598-018-28846-4.
  6. Norante RP, Massimino ML, Lorenzon P, De Mario A, Peggion C, Vicario M, Albiero M, Sorgato MC, Lopreiato R, Bertoli A (2017) Generation and validation of novel adeno-associated viral vectors for the analysis of Ca(2+) homeostasis in motor neurons. Sci. Rep. 7, 6521. doi: 10.1038/s41598-017-06919-0.