V
Valentina Fracasso
Publications - 4
Citations - 330
Valentina Fracasso is an academic researcher. The author has contributed to research in topics: Paraplegin & Neurodegeneration. The author has an hindex of 3, co-authored 4 publications receiving 291 citations.
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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
Daniela Di Bella,Federico Lazzaro,Alfredo Brusco,Massimo Plumari,Giorgio Battaglia,Annalisa Pastore,Adele Finardi,Claudia Cagnoli,Filippo Tempia,Marina Frontali,Liana Veneziano,Tiziana Sacco,Enrica Boda,Alessandro Brussino,Florian Bonn,Barbara Castellotti,Silvia Baratta,Caterina Mariotti,Cinzia Gellera,Valentina Fracasso,Stefania Magri,Thomas Langer,Paolo Plevani,Stefano Di Donato,Marco Muzi-Falconi,Franco Taroni +25 more
TL;DR: This work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegenersation.
Journal ArticleDOI
Concurrent AFG3L2 and SPG7 mutations associated with syndromic parkinsonism and optic atrophy with aberrant OPA1 processing and mitochondrial network fragmentation.
Stefania Magri,Valentina Fracasso,Massimo Plumari,Enrico Alfei,Daniele Ghezzi,Cinzia Gellera,Paola Rusmini,Angelo Poletti,Daniela Di Bella,Antonio E. Elia,Chiara Pantaleoni,Franco Taroni +11 more
TL;DR: A novel m‐AAA‐associated phenotype characterized by early‐onset optic atrophy with spastic ataxia and L‐dopa‐responsive parkinsonism is reported and a crucial role for OPA1 processing in the pathogenesis of neurodegenerative disease caused by m‐ AAA defects is revealed.