Leonardo Salviati
Leonardo SalviatiProfessor of Medical Genetics – Department of Women's and Children HealthPhone: 049/8213572 |
Research description
Research has focused on the molecular bases of and the pathophysiology of several adult-onset neurodegenerative conditions, focusing on the role of mitochondrial dysfunction. Our group is interested in developing simple models for the study of these conditions, such as yeast and C.elegans.
Relevant publications
An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders. Mainardi M, Lerjefors L, Bonato G, Bertolin C, Salviati L, Carecchio M. J Neurol. 2022 Feb 3. doi: 10.1007/s00415-022-10999-y.
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.Baschiera E, Sorrentino U, Calderan C, Desbats MA, Salviati L. Free Radic Biol Med. 2021 Apr;166:277-286.
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients. Doni D, Rigoni G, Palumbo E, Baschiera E, Peruzzo R, De Rosa E, Caicci F, Passerini L, Bettio D, Russo A, Szabò I, Soriano ME, Salviati L, Costantini P. FASEB J. 2021 Mar;35(3):e21362.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.Macchione F, Salviati L, Bordugo A, Vincenzi M, Camilot M, Teofoli F, Pancheri E, Zordan R, Bertolin C, Rossi S, Vattemi G, Tonin P. J Neurol. 2020 May;267(5):1414-1419.
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass.Favaro G, Romanello V, Varanita T, Andrea Desbats M, Morbidoni V, Tezze C, Albiero M, Canato M, Gherardi G, De Stefani D, Mammucari C, Blaauw B, Boncompagni S, Protasi F, Reggiani C, Scorrano L, Salviati L, Sandri M. Nat Commun. 2019 Jun 12;10(1):2576.
A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum? Favaretto S, Margoni M, Salviati L, Pianese L, Manara R, Baracchini C. J Neurol Sci. 2019 Jan 15;396:108-111.
Sarcopenia: Aging-Related Loss of Muscle Mass and Function. Larsson L, Degens H, Li M, Salviati L, Lee YI, Thompson W, Kirkland JL, Sandri M.Physiol Rev. 2019 Jan 1;99(1):427-511.
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence. Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, Ciciliot S, Soriano ME, Morbidoni V, Cerqua C, Loefler S, Kern H, Franceschi C, Salvioli S, Conte M, Blaauw B, Zampieri S, Salviati L, Scorrano L, Sandri M. Cell Metab. 2017 Jun 6;25(6):1374-1389.e6.
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients. Borgia D, Malena A, Spinazzi M, Desbats MA, Salviati L, Russell AP, Miotto G, Tosatto L, Pegoraro E, Sorarù G, Pennuto M, Vergani L. Hum Mol Genet. 2017 Mar 15;26(6):1087-1103. d10. The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.
Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E. Hum Mol Genet. 2016 Oct 1;25(19):4256-4265.