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Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Magri S, Fracasso V, Plumari M, Alfei E, Ghezzi D, Gellera C, Rusmini P, Poletti A, Di Bella D, Elia AE, Pantaleoni C, Taroni F. Magri S, et al. Among authors: fracasso v. Hum Mutat. 2018 Dec;39(12):2060-2071. doi: 10.1002/humu.23658. Epub 2018 Oct 10. Hum Mutat. 2018. PMID: 30252181 Free article.
Maladaptive Modulations of NLRP3 Inflammasome and Cardioprotective Pathways Are Involved in Diet-Induced Exacerbation of Myocardial Ischemia/Reperfusion Injury in Mice.
Mastrocola R, Collino M, Penna C, Nigro D, Chiazza F, Fracasso V, Tullio F, Alloatti G, Pagliaro P, Aragno M. Mastrocola R, et al. Among authors: fracasso v. Oxid Med Cell Longev. 2016;2016:3480637. doi: 10.1155/2016/3480637. Epub 2015 Dec 14. Oxid Med Cell Longev. 2016. PMID: 26788246 Free PMC article.
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F. Di Bella D, et al. Among authors: fracasso v. Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7. Nat Genet. 2010. PMID: 20208537