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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: capristo m. 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.
Incomplete penetrance in mitochondrial optic neuropathies.
Caporali L, Maresca A, Capristo M, Del Dotto V, Tagliavini F, Valentino ML, La Morgia C, Carelli V. Caporali L, et al. Among authors: capristo m. Mitochondrion. 2017 Sep;36:130-137. doi: 10.1016/j.mito.2017.07.004. Epub 2017 Jul 14. Mitochondrion. 2017. PMID: 28716668 Review.
Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber's hereditary optic neuropathy.
Caporali L, Iommarini L, La Morgia C, Olivieri A, Achilli A, Maresca A, Valentino ML, Capristo M, Tagliavini F, Del Dotto V, Zanna C, Liguori R, Barboni P, Carbonelli M, Cocetta V, Montopoli M, Martinuzzi A, Cenacchi G, De Michele G, Testa F, Nesti A, Simonelli F, Porcelli AM, Torroni A, Carelli V. Caporali L, et al. Among authors: capristo m. PLoS Genet. 2018 Feb 14;14(2):e1007210. doi: 10.1371/journal.pgen.1007210. eCollection 2018 Feb. PLoS Genet. 2018. PMID: 29444077 Free PMC article.
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL, Sheremet NL, Catarino CB, Andreeva NA, Assouline Z, Barboni P, Barel O, Berutti R, Bychkov I, Caporali L, Capristo M, Carbonelli M, Cascavilla ML, Charbel Issa P, Freisinger P, Gerber S, Ghezzi D, Graf E, Heidler J, Hempel M, Heon E, Itkis YS, Javasky E, Kaplan J, Kopajtich R, Kornblum C, Kovacs-Nagy R, Krylova TD, Kunz WS, La Morgia C, Lamperti C, Ludwig C, Malacarne PF, Maresca A, Mayr JA, Meisterknecht J, Nevinitsyna TA, Palombo F, Pode-Shakked B, Shmelkova MS, Strom TM, Tagliavini F, Tzadok M, van der Ven AT, Vignal-Clermont C, Wagner M, Zakharova EY, Zhorzholadze NV, Rozet JM, Carelli V, Tsygankova PG, Klopstock T, Wittig I, Prokisch H. Stenton SL, et al. Among authors: capristo m. J Clin Invest. 2021 Mar 15;131(6):e138267. doi: 10.1172/JCI138267. J Clin Invest. 2021. PMID: 33465056 Free PMC article.
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
Peverelli L, Catania A, Marchet S, Ciasca P, Cammarata G, Melzi L, Bellino A, Fancellu R, Lamantea E, Capristo M, Caporali L, La Morgia C, Carelli V, Ghezzi D, Bianchi Marzoli S, Lamperti C. Peverelli L, et al. Among authors: capristo m. Front Neurol. 2021 Jun 9;12:657317. doi: 10.3389/fneur.2021.657317. eCollection 2021. Front Neurol. 2021. PMID: 34177762 Free PMC article.
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
Caporali L, Magri S, Legati A, Del Dotto V, Tagliavini F, Balistreri F, Nasca A, La Morgia C, Carbonelli M, Valentino ML, Lamantea E, Baratta S, Schöls L, Schüle R, Barboni P, Cascavilla ML, Maresca A, Capristo M, Ardissone A, Pareyson D, Cammarata G, Melzi L, Zeviani M, Peverelli L, Lamperti C, Marzoli SB, Fang M, Synofzik M, Ghezzi D, Carelli V, Taroni F. Caporali L, et al. Among authors: capristo m. Ann Neurol. 2020 Jul;88(1):18-32. doi: 10.1002/ana.25723. Epub 2020 Apr 21. Ann Neurol. 2020. PMID: 32219868 Free PMC article.
Author Correction: Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
La Morgia C, Maresca A, Amore G, Gramegna LL, Carbonelli M, Scimonelli E, Danese A, Patergnani S, Caporali L, Tagliavini F, Del Dotto V, Capristo M, Sadun F, Barboni P, Savini G, Evangelisti S, Bianchini C, Valentino ML, Liguori R, Tonon C, Giorgi C, Pinton P, Lodi R, Carelli V. La Morgia C, et al. Among authors: capristo m. Sci Rep. 2020 Jun 23;10(1):10398. doi: 10.1038/s41598-020-67203-2. Sci Rep. 2020. PMID: 32576919 Free PMC article.
Expanding and validating the biomarkers for mitochondrial diseases.
Maresca A, Del Dotto V, Romagnoli M, La Morgia C, Di Vito L, Capristo M, Valentino ML, Carelli V; ER-MITO Study Group. Maresca A, et al. Among authors: capristo m. J Mol Med (Berl). 2020 Oct;98(10):1467-1478. doi: 10.1007/s00109-020-01967-y. Epub 2020 Aug 26. J Mol Med (Berl). 2020. PMID: 32851462 Free PMC article.
Calcium mishandling in absence of primary mitochondrial dysfunction drives cellular pathology in Wolfram Syndrome.
La Morgia C, Maresca A, Amore G, Gramegna LL, Carbonelli M, Scimonelli E, Danese A, Patergnani S, Caporali L, Tagliavini F, Del Dotto V, Capristo M, Sadun F, Barboni P, Savini G, Evangelisti S, Bianchini C, Valentino ML, Liguori R, Tonon C, Giorgi C, Pinton P, Lodi R, Carelli V. La Morgia C, et al. Among authors: capristo m. Sci Rep. 2020 Mar 16;10(1):4785. doi: 10.1038/s41598-020-61735-3. Sci Rep. 2020. PMID: 32179840 Free PMC article.
28 results