Institutes
Neuromuscular repair
Progressive tissue degeneration and defective regeneration are responsible for disability in most chronic neuromuscular disorders, including inherited neuropathies and muscular dystrophies. Although in many cases the genetic causes are well known, much remains to discover regarding the pathogenetic mechanisms and reliable therapies. The main goal of our research is to investigate the pathogenetic role of adhesion and cytoskeleton rearrangement in neuromuscular disorders and tissue regeneration, and to identify potential therapeutic strategies.
Research activity
Our main fields of study include:
- The role of adhesion in nerve and muscle development and pathology.
- Discovery of new genes involved in the pathogenesis of inherited neuropathies and muscular dystrophies, by exploiting next generation sequencing, functional studies, and iPS cells.
- Pathogenesis and potential therapies for Merosin-deficient Congenital Muscular Dystrophy (or LAMA2 disorder), characterized by muscular dystrophy and dysmyelinating neuropathy. Use of animal and cellular models.
- The role of Jab1 and related cell-cell adhesion molecules in the control of axon-glia interaction, myelination, and in tissue repair.
- Preclinical and clinical trials for neuromuscular disorders, with primary focus on CMT neuropathies and Duchenne muscular dystrophy.
Longo F, Benedetti S, Zambon AA, Sora MGN, Di Resta C, De Ritis D, Quattrini A, Maltecca F, Ferrari M, Previtali SC. Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.Hum Mol Genet. 2019 Sep 7.
Previtali SC, Zhao E, Lazarevic D, Pipitone GB, Fabrizi GM, Manganelli F, Mazzeo A, Pareyson D, Schenone A, Taroni F, Vita G, Bellone E, Ferrarini M, Garibaldi M, Magri S, Padua L, Pennisi E, Pisciotta C, Riva N, Scaioli V, Scarlato M, Tozza S, Geroldi A, Jordanova A, Ferrari M, Molineris I, Reilly MM, Comi G, Carrera P, Devoto M, Bolino A. Expanding the spectrum of genes responsible for hereditary motor neuropathies. J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1171-1179
Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs). Ann Neurol. 2019 Jul;86(1):55-67
Bolino A, Piguet F, Alberizzi V, Pellegatta M, Rivellini C, Guerrero-Valero M, Noseda R, Brombin C, Nonis A, D'Adamo P, Taveggia C, Previtali SC. Niacin-mediated Tace activation ameliorates CMT neuropathies with focal hypermyelination. EMBO Mol Med. 2016 Dec 1;8(12):1438-1454.
Feltri ML, Poitelon Y, Previtali SC. How Schwann cells sort axons: New concepts. Neuroscientist. 2016 Jun;22(3):252-65.
Cossu G, Previtali SC, Napolitano S, Cicalese MP, Tedesco FS, Nicastro F, Noviello M, Roostalu U, Natali Sora MG, Scarlato M, De Pellegrin M, Godi C, Giuliani S, Ciotti F, Tonlorenzi R, Lorenzetti I, Rivellini C, Benedetti S, Gatti R, Marktel S, Mazzi B, Tettamanti A, Ragazzi M, Imro MA, Marano G, Ambrosi A, Fiori R, Sormani MP, Bonini C, Venturini M, Politi LS, Torrente Y, Ciceri F. Intra-arterial transplantation of HLA-matched donor mesoangioblasts in Duchenne muscular dystrophy. EMBO Mol Med. 2015 Nov 5;7(12):1513-28.
Porrello E, Rivellini C, Dina G, Triolo D, Del Carro U, Ungaro D, Panattoni M, Feltri ML, Wrabetz L, Pardi R, Quattrini A, Previtali SC. Jab1 regulates Schwann cell proliferation and axonal sorting through p27. J Exp Med. 2014 Jan 13;211(1):29-43.
Triolo D, Dina G, Taveggia C, Vaccari I, Porrello E, Rivellini C, Domi T, La Marca R, Cerri F, Bolino A, Quattrini A, Previtali SC. Vimentin regulates peripheral nerve myelination. Development. 2012 Apr;139(7):1359-67
Benedetti S, Previtali SC, Coviello S, Scarlato M, Cerri F, Di Pierri E, Piantoni L, Spiga I, Fazio R, Riva N, Natali Sora MG, Dacci P, Malaguti MC, Munerati E, Grimaldi LM, Marrosu MG, De Pellegrin M, Ferrari M, Comi G, Quattrini A, Bolino A. Analyzing histopathological features of rare charcot-marie-tooth neuropathies to unravel their pathogenesis. Arch Neurol. 2010 Dec;67(12):1498-50.
Nodari A, Previtali SC, Dati G, Occhi S, Court FA, Colombelli A, Zambroni D, Dina G, Del Carro U, Campbell KP, Quattrini A, Wrabetz L, Feltri ML. α6β4 integrin and dystroglycan cooperate to stabilize the myelin sheath. J Neurosci 2008; 28: 6714-6719
Previtali SC, Malaguti MC, Riva N, Scarlato M, Dacci P, Dina G, Triolo D, Porrello E, Fazio R, Comi G, Bolino A, Quattrini A. The extracellular matrix composition affects regeneration and clinical outcome in axonal neuropathies. Neurology 2008, 71(5): 322-331.
Triolo D, Dina G, Lorenzetti I, Malaguti MC, Morana P, Del Carro U, Comi G, Messing A, Quattrini A, Previtali SC. Loss of Glial Fibrillary Acidic Protein (GFAP) impairs Schwann cell proliferation and delays nerve regeneration after damage. J Cell Sci 2006; 119: 3981-3993.
Previtali SC, Nodari A, Taveggia C, Pardini C, Dina G, Villa A, Wrabetz L, Quattrini A, Feltri ML. Expression of laminin receptors in Schwann cell differentiation: Evidence for distinct roles. J Neurosci 2003; 23: 5520-5530.
Previtali SC, Zerega B, Sherman DL, Brophy PI, Dina G, King RH, Salih MM, Feltri ML, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve. Hum Mol Genet 2003; 12: 1713-1723.
Feltri ML, Graus Porta D, Previtali SC, Nodari A, Migliavacca B, Cassetti A, Littlewood-Evans A, Reichardt LF, Messing A, Quattrini A, Mueller U, Wrabetz L. Conditional disruption of beta-1 integrin in Schwann cells impedes interactions with axons. J Cell Biol 2002; 156: 199-210.
