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.

5 recent publications

NORANTE RP, PEGGION C, ROSSI D, MARTORANA F, DE MARIO A, LIA A, MASSIMINO ML, BERTOLI A (2019) ALS-Associated SOD1(G93A) Decreases SERCA Pump Levels and Increases Store-Operated Ca(2+) Entry in Primary Spinal Cord Astrocytes from a Transgenic Mouse Model. Int. J. Mol. Sci. 20, pii: E5151. DOI: 10.3390/ijms20205151

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: 10.3390/ijms20205151

Massimino ml, Simonato m, Spolaore b, Franchin c, Arrigoni g, Marin o, Monturiol-Gross l, Fernández j, Lomonte b, Tonello f Cell surface nucleolin interacts with and internalizes Bothrops asper Lys49 phospholipase A2 and mediates its toxic activity. Sci. Rep. 13;8, 10619. DOI: 10.1038/s41598-018-28846-4

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

PEGGION C, MASSIMINO ML, BIANCOTTO G, ANGELETTI R, REGGIANI C, SORGATO MC, BERTOLI A, STELLA R (2017) Absolute quantification of myosin heavy chain isoforms by selected reaction monitoring can underscore skeletal muscle changes in a mouse model of amyotrophic lateral sclerosis. Anal. Bioanal. Chem. 409, 2143-2153. DOI:10.1007/s00216-016-0160-2