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The relevance of mitochondrial DNA variants fluctuation during reprogramming and neuronal differentiation of human iPSCs.
Palombo F, Peron C, Caporali L, Iannielli A, Maresca A, Di Meo I, Fiorini C, Segnali A, Sciacca FL, Rizzo A, Levi S, Suomalainen A, Prigione A, Broccoli V, Carelli V, Tiranti V. Palombo F, et al. Among authors: peron c. Stem Cell Reports. 2021 Aug 10;16(8):1953-1967. doi: 10.1016/j.stemcr.2021.06.016. Epub 2021 Jul 29. Stem Cell Reports. 2021. PMID: 34329598 Free PMC article.
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
Aleo SJ, Del Dotto V, Romagnoli M, Fiorini C, Capirossi G, Peron C, Maresca A, Caporali L, Capristo M, Tropeano CV, Zanna C, Ross-Cisneros FN, Sadun AA, Pignataro MG, Giordano C, Fasano C, Cavaliere A, Porcelli AM, Tioli G, Musiani F, Catania A, Lamperti C, Marzoli SB, De Negri A, Cascavilla ML, Battista M, Barboni P, Carbonelli M, Amore G, La Morgia C, Smirnov D, Vasilescu C, Farzeen A, Blickhaeuser B, Prokisch H, Priglinger C, Livonius B, Catarino CB, Klopstock T, Tiranti V, Carelli V, Ghelli AM. Aleo SJ, et al. Among authors: peron c. Cell Rep Med. 2024 Feb 20;5(2):101383. doi: 10.1016/j.xcrm.2023.101383. Epub 2024 Jan 24. Cell Rep Med. 2024. PMID: 38272025 Free PMC article.
Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
Peron C, Cavaliere A, Fasano C, Iannielli A, Spagnolo M, Legati A, Nicol Colombo M, Rizzo A, Sciacca FL, Carelli V, Broccoli V, Lamperti C, Tiranti V. Peron C, et al. Stem Cell Res. 2024 Mar 24;77:103406. doi: 10.1016/j.scr.2024.103406. Online ahead of print. Stem Cell Res. 2024. PMID: 38552355 Free article.
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder.
Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Peron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan J, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page M, Stong N, Boesch S, Kopajtich R, Wortmann S, Sperl W, Davis EE, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V. Del Dotto V, et al. Among authors: peron c. J Clin Invest. 2020 Jan 2;130(1):108-125. doi: 10.1172/JCI128514. J Clin Invest. 2020. PMID: 31550240 Free PMC article.
Pathological mitophagy disrupts mitochondrial homeostasis in Leber's hereditary optic neuropathy.
Danese A, Patergnani S, Maresca A, Peron C, Raimondi A, Caporali L, Marchi S, La Morgia C, Del Dotto V, Zanna C, Iannielli A, Segnali A, Di Meo I, Cavaliere A, Lebiedzinska-Arciszewska M, Wieckowski MR, Martinuzzi A, Moraes-Filho MN, Salomao SR, Berezovsky A, Belfort R Jr, Buser C, Ross-Cisneros FN, Sadun AA, Tacchetti C, Broccoli V, Giorgi C, Tiranti V, Carelli V, Pinton P. Danese A, et al. Among authors: peron c. Cell Rep. 2022 Jul 19;40(3):111124. doi: 10.1016/j.celrep.2022.111124. Cell Rep. 2022. PMID: 35858578 Free PMC article.
48 results