Pathophysiology of Striated Muscles

Our group studies the cellular and molecular mechanisms underlying selected pathologies of cardiac and skeletal muscles with the aim to identify and develop novel therapeutic strategies to fight these rare diseases.Our efforts are devoted to clarify the pathogenic consequences of protein misfolding in sarcoglycanopathy, Brody disease and catecholaminergic polymorphic ventricular tachycardia (CPVT). For this reason we are developing innovative platforms useful for studying rare muscular diseases at the basal level and for drug screening and validation. This approach may be helpful for translating therapeutic strategies from one pathology to another.

We are also interested in understanding the molecular basis driving cardiac growth and the impact of these processes on the development of congenital and adult cardiovascular diseases. The study of heat stroke and of skeletal muscle atrophy as consequence of disuse (microgravity, ageing and bed rest) are two other topics of our group. To accomplish these tasks, we use cellular models, primary myogenic cells from healthy and affected subjects as well as mouse and zebrafish models of the diseases.



  • Pompeo VOLPE - Associate Professor
  • Marina CAMPIONE - C.N.R. Senior Scientist
  • Marta MURGIA - Assistant Professor
  • Alessandra NORI - Assistant Professor
  • Dorianna SANDONA' - Associate Professor

Lab Member

  • Martina SCANO - Post-doctoral fellow
  • Francesco DALLA BARBA - Research fellow
  • Barbara RAVARA - Research fellow
  • Giorgia VALLE - Research fellow
  • Sandra FURLAN - C.N.R. Senior Technician
  • Alberto BENETOLLO - PhD Student
  • Paola CACCIN - Research assistant
  • Marcello CAROTTI - Research assistant

  Five recent publications

  1. Scano M, Benetollo A, Nogara L, Bondì M, Barba FD, Soardi M, Furlan S, Akyurek EE, Caccin P, Carotti M, Sacchetto R, Blaauw B, Sandonà D.
    CFTR corrector C17 is effective in muscular dystrophy, in vivo proof of concept in LGMDR3.
    Hum Mol Genet. 2021 Sep 9:ddab260. doi: 10.1093/hmg/ddab260
  2. Carotti M, Scano M, Fancello I, Richard I, Risato G, Bensalah M, Soardi M, Sandonà D. Combined Use of CFTR Correctors in LGMD2D Myotubes Improves Sarcoglycan Complex Recovery. Int J Mol Sci. 2020 Mar 6;21(5):1813. doi: 10.3390/ijms21051813.
  3. Carotti M, Marsolier J, Soardi M, Bianchini E, Gomiero C, Fecchio C, Henriques SF, Betto R, Sacchetto R, Richard I, Sandonà D. Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for Limb Girdle Muscular Dystrophy 2D.  Hum Mol Genet. (2018) 27(6):969-984
  4. Furlan S, Mosole S, Murgia M, Nagaraj N, Argenton F, Volpe P, Nori A. Calsequestrins in skeletal and cardiac muscle from adult Danio rerio. J Muscle Res Cell Motil. 2016 Apr;37(1-2):27-39.
  5. Piroddi N, Pesce P, Scellini B, Manzini S, Ganzetti GS, Badi I, Menegollo M, Cora V, Tiso S, Cinquetti R, Monti L, Chiesa G, Bleyl SB, Busnelli M, Dellera F, Bruno D, Caicci F, Grimaldi A, Taramelli R, Manni L, Sacerdoti D, Tesi C, Poggesi C, Ausoni S, Acquati F, Campione M. Myocardial overexpression of ANKRD1 causes sinus venosus defects and progressive diastolic dysfunction. Cardiovasc Res. 2020;116(8):1458-1472.
  6. Liu B, Walton SD, Ho HT, Belevych AE, Tikunova SB, Bonilla I, Shettigar V, Knollmann BC, Priori SG, Volpe P, Radwański PB, Davis JP, Györke S. Gene Transfer of Engineered Calmodulin Alleviates Ventricular Arrhythmias in a Calsequestrin-Associated Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia. J Am Heart Assoc. (2018) 7(10). pii: e008155. doi: 10.1161/JAHA.117.008155.


  • Italian Telethon (PI  Sandonà):  “3D modelling of rare muscular diseases, a powerful platform for basic studies and drug validation”, 2021-2024
  • Italian Telethon (PI   Sandonà) Seed Grant Spring 2020 MCT8:  "Repurposing CFTR correctors in Allan Herndon Dudley syndrome" 2021-2022
  • AFM (Association française contre les myopathies) (PI Sandonà): “CFTR correctors to treat sarcoglycanopathy, a repurposing story” 2020-2022
  • MDA (Muscular dystrophy association) (PI Sandonà): “Novel zebrafish models of sarcoglycanopathy. Swimming toward a cure.” 2018-2021
  • Programma PoC@Unipd (PI Sandonà): Recuperare proteine misfolded di malattie rare grazie a molecole note (Rimedio) 2021-2022
  • ASI (Agenzia Spaziale Italiana) (PI Volpe): Microgravity-induced gene expression in a nerve-muscle coculture model (NeMuCo) 2018-2021
  • BIRD (PI A. Nori ): Exploring Calsequestrin-based Calcium stores in mammalian cerebellum

  Useful links

Rare diseases: 

Pathogenic consequences of protein misfolding: 

Molecular basis driving cardiac growth: 

Skeletal muscle atrophy: 

Mouse and zebrafish models of the diseases: