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Page 1
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction.
Pettenuzzo I, Carli S, Sánchez-Cuesta A, Isidori F, Montanari F, Grippa M, Lanzoni G, Ambrosetti I, Di Pisa V, Cordelli DM, Mondardini MC, Pippucci T, Ragni L, Cenacchi G, Costa R, Lima M, Capristo MA, Tropeano CV, Caporali L, Carelli V, Brunelli E, Maffei M, Ahmed Sheikhmaye H, Fetta A, Brea-Calvo G, Garone C. Pettenuzzo I, et al. Among authors: tropeano cv. Eur J Hum Genet. 2024 May 3. doi: 10.1038/s41431-024-01615-w. Online ahead of print. Eur J Hum Genet. 2024. PMID: 38702428
Identification of a mechanism promoting mitochondrial sterol accumulation during myocardial ischemia-reperfusion: role of TSPO and STAR.
Bréhat J, Leick S, Musman J, Su JB, Eychenne N, Giton F, Rivard M, Barel LA, Tropeano C, Vitarelli F, Caccia C, Leoni V, Ghaleh B, Pons S, Morin D. Bréhat J, et al. Among authors: tropeano c. Basic Res Cardiol. 2024 Jun;119(3):481-503. doi: 10.1007/s00395-024-01043-3. Epub 2024 Mar 22. Basic Res Cardiol. 2024. PMID: 38517482
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: tropeano cv. 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.
Recessive MECR pathogenic variants cause an LHON-like optic neuropathy.
Fiorini C, Degiorgi A, Cascavilla ML, Tropeano CV, La Morgia C, Battista M, Ormanbekova D, Palombo F, Carbonelli M, Bandello F, Carelli V, Maresca A, Barboni P, Baruffini E, Caporali L. Fiorini C, et al. Among authors: tropeano cv. J Med Genet. 2023 Dec 21;61(1):93-101. doi: 10.1136/jmg-2023-109340. J Med Genet. 2023. PMID: 37734847 Free PMC article.
DNA Damage in Circulating Hematopoietic Progenitor Stem Cells as Promising Biological Sensor of Frailty.
Grasselli C, Bombelli S, Eriani S, Domenici G, Galluccio R, Tropeano C, De Marco S, Bolognesi MM, Torsello B, Bianchi C, Antolini L, Rossi F, Mazzola P, Leoni V, Bellelli G, Perego RA. Grasselli C, et al. Among authors: tropeano c. J Gerontol A Biol Sci Med Sci. 2022 Jul 5;77(7):1279-1286. doi: 10.1093/gerona/glac034. J Gerontol A Biol Sci Med Sci. 2022. PMID: 35137086 Free PMC article.
DNMT1 mutations leading to neurodegeneration paradoxically reflect on mitochondrial metabolism.
Maresca A, Del Dotto V, Capristo M, Scimonelli E, Tagliavini F, Morandi L, Tropeano CV, Caporali L, Mohamed S, Roberti M, Scandiffio L, Zaffagnini M, Rossi J, Cappelletti M, Musiani F, Contin M, Riva R, Liguori R, Pizza F, La Morgia C, Antelmi E, Loguercio Polosa P, Mignot E, Zanna C, Plazzi G, Carelli V. Maresca A, et al. Among authors: tropeano cv. Hum Mol Genet. 2020 Jul 21;29(11):1864-1881. doi: 10.1093/hmg/ddaa014. Hum Mol Genet. 2020. PMID: 31984424 Free PMC article.
Fine-tuning of the respiratory complexes stability and supercomplexes assembly in cells defective of complex III.
Tropeano CV, Aleo SJ, Zanna C, Roberti M, Scandiffio L, Loguercio Polosa P, Fiori J, Porru E, Roda A, Carelli V, Steimle S, Daldal F, Rugolo M, Ghelli A. Tropeano CV, et al. Biochim Biophys Acta Bioenerg. 2020 Feb 1;1861(2):148133. doi: 10.1016/j.bbabio.2019.148133. Epub 2019 Dec 9. Biochim Biophys Acta Bioenerg. 2020. PMID: 31825807 Free PMC article.
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. 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.
15 results