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.

Recent publications


  • 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


rare diseases: 


pathogenic consequences of protein misfolding: 


molecular basis driving cardiac growth: 


skeletal muscle atrophy: 


mouse and zebrafish models of the diseases: