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A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
Carossa V, Ghelli A, Tropeano CV, Valentino ML, Iommarini L, Maresca A, Caporali L, La Morgia C, Liguori R, Barboni P, Carbonelli M, Rizzo G, Tonon C, Lodi R, Martinuzzi A, De Nardo V, Rugolo M, Ferretti L, Gandini F, Pala M, Achilli A, Olivieri A, Torroni A, Carelli V. Carossa V, et al. Among authors: tropeano cv. Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24863938
The cytochrome b p.278Y>C mutation causative of a multisystem disorder enhances superoxide production and alters supramolecular interactions of respiratory chain complexes.
Ghelli A, Tropeano CV, Calvaruso MA, Marchesini A, Iommarini L, Porcelli AM, Zanna C, De Nardo V, Martinuzzi A, Wibrand F, Vissing J, Kurelac I, Gasparre G, Selamoglu N, Daldal F, Rugolo M. Ghelli A, et al. Among authors: tropeano cv. Hum Mol Genet. 2013 Jun 1;22(11):2141-51. doi: 10.1093/hmg/ddt067. Epub 2013 Feb 14. Hum Mol Genet. 2013. PMID: 23418307 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.
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.
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.
13 results