Pathophysiology of Striated Muscles


  • ERAD of membrane proteins in normal and dystrophic muscle. Development of novel therapeutic approaches to treat rare genetic diseases of striated muscles
  • Role of Calsequestrin in morphogenesis and function of skeletal muscle
  • Human Skeletal Muscle plasticity
  • Molecular pathogenesis of Cathecolaminergic polymorphic ventricular tachycardia (CPVT)


5 recent publications

  • SandonĂ  D., Betto R. Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects. Expert. Rev. Mol. Med. (2009) Sep 28; 11:e28
  • Bianchini E., Fanin M., Mamchaoui K., Betto R., SandonĂ  D. Unveiling the degradative route of the V247M -sarcoglycan mutant responsible for LGMD-2D. Human Mol Gen. (2014) Mar 9. [Epub ahead of print] PMID: 24565866
  • M. Tomasi, M. Canato, C. Paolini, M. Dainese, C. Reggiani, P. Volpe, F. Protasi and A. Nori. Calsequestrin (CASQ1) rescues function and structure of calcium release units in skeletal muscles of CASQ1-null mice. Am. J. Physiol. Cell Physiol. 302: C575-C586, 2012.
  • H. Chen, G. Valle, S. Furlan, A. Nani, S. Gyorke, M. Fill and P. Volpe. Mechanism of calsequestrin regulation of single cardiac ryanodine receptor in normal and pathological conditions. J. Gen. Physiol. 142: 127-136, 2013
  • G. Valle, S. Boncompagni, R. Sacchetto, F. Protasi and P. Volpe. Post-natal adaptation in a knock-in mouse model of calsequestrin 2-linked recessive catecholaminergic polymorphic ventricular tachycardia. Exp Cell Res. 321: 178-189, 2014


  • MIUR
  • Telethon