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Page 1
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: ghelli am. 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.
Exogenous peptides are able to penetrate human cell and mitochondrial membranes, stabilize mitochondrial tRNA structures, and rescue severe mitochondrial defects.
Perli E, Pisano A, Pignataro MG, Campese AF, Pelullo M, Genovese I, de Turris V, Ghelli AM, Cerbelli B, Giordano C, Colotti G, Morea V, d'Amati G. Perli E, et al. Among authors: ghelli am. FASEB J. 2020 Jun;34(6):7675-7686. doi: 10.1096/fj.201903270R. Epub 2020 Apr 18. FASEB J. 2020. PMID: 32304340
Corrigendum to: "Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III." [Biochim. Biophys. Acta 2018;1859(3):182-190.].
Tropeano CV, Fiori J, Carelli V, Caporali L, Daldal F, Ghelli AM, Rugolo M. Tropeano CV, et al. Among authors: ghelli am. Biochim Biophys Acta Bioenerg. 2018 Dec;1859(12):1327. doi: 10.1016/j.bbabio.2018.06.010. Epub 2018 Jun 29. Biochim Biophys Acta Bioenerg. 2018. PMID: 29909117 Free article. No abstract available.
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V. Caporali L, et al. Among authors: ghelli am. Biochim Biophys Acta. 2013 Mar;1832(3):445-52. doi: 10.1016/j.bbadis.2012.12.002. Epub 2012 Dec 14. Biochim Biophys Acta. 2013. PMID: 23246842 Free PMC article.