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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: tiranti v. Ann Clin Transl Neurol. 2024 May 15. doi: 10.1002/acn3.52079. Online ahead of print. Ann Clin Transl Neurol. 2024. PMID: 38750253
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. Among authors: tiranti v. 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.
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: tiranti v. 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.
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: tiranti v. Cell Rep. 2022 Jul 19;40(3):111124. doi: 10.1016/j.celrep.2022.111124. Cell Rep. 2022. PMID: 35858578 Free PMC article.
145 results