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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. 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. 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.
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. Eur J Hum Genet. 2024 Aug;32(8):938-946. doi: 10.1038/s41431-024-01615-w. Epub 2024 May 3. Eur J Hum Genet. 2024. PMID: 38702428 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. 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.
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. Hum Mutat. 2014 Aug;35(8):954-8. doi: 10.1002/humu.22596. Epub 2014 Jun 28. Hum Mutat. 2014. PMID: 24863938
15 results