Associate Professor SSD BIOS-13/A (ex BIO/17)
Education
2006 PhD in Medical Embryology (XVIII cycle), University of Rome "Tor Vergata". Thesis title: Isolation and characterization of ES-like subpopulations from human umbilical and peripheral cord blood and from murine bone marrow
2002 Degree in Biological Sciences, University of Rome "La Sapienza", 108/110. Thesis title: "Influence of an altered thyroid status on cell cycle proteins during liver regeneration"
Main Research Topics
1) Structural, contractile and molecular alterations induced by mutations in specific muscle proteins that are causative for pathologies with muscle aetiology such as MH and CCD (RYR1, type 1 ryanodine receptor), TAM (CASQ1, Calsequestrin1), dilated cardiomyopathy (OBSCN, Obscurin)
2) Role of the proteins Obscurin and small-Ankyrin1.5 in the structure, function and metabolism of skeletal muscle fibers.
Scientific responsibility for research projects
2023-2025 "Ministry of University and Research BANDO PRIN 2022" Scientific Head of the Research Unit of the University of Siena within the project 20229A4WPC entitled: "MiR-486 as a novel therapeutic target for RYR1-related core myopathies". Funding received from the Siena Unit: 35,885 euros.
2014–2017 “Ministry of Education, University and Research FUTURE PROGRAM in RESEARCH 2013”. Scientific Head of the Research Unit of the University of Siena within the RBFR13A20K project entitled "Structural and functional alterations in Central Core Disease (CCD): understanding of the molecular mechanisms and genetic basis aimed at developing therapeutic strategies". Funding received from the Siena Unit: 117,000 euros.
Other fundings
2023 “University of Siena, Research Support Plan 2023”, Head of the project entitled: "Study of the role of the “super-stretch muscle enhancer” located within the Ank1 gene in the susceptibility to type 2 diabetes mellitus".
2022 “University of Siena, Research Support Plan 2022”, Scientific Responsible of the project entitled: "Study of the role of the muscle proteins sAnk1.5 and Obscurin in the organization of the structure and in the regulation of the metabolism of skeletal muscle fibres".
2021 “University of Siena, F-LAB 2021 Plan”, Scientific Responsible for the project entitled: “QUANTIDA (Quantitative Analysis of Nucleic acids Toward Improvement of Departments Activities)”.
2020 "University of Siena, Research Support Plan 2020", Scientific Responsible for the project entitled: "Study of the ANK1 locus in the organization of the structure and in the regulation of the metabolism of skeletal muscle fibers".