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An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder.
Cameli C, Viggiano M, Rochat MJ, Maresca A, Caporali L, Fiorini C, Palombo F, Magini P, Duardo RC, Ceroni F, Scaduto MC, Posar A, Seri M, Carelli V, Visconti P, Bacchelli E, Maestrini E. Cameli C, et al. Among authors: carelli v. J Cell Mol Med. 2021 Mar;25(5):2459-2470. doi: 10.1111/jcmm.16161. Epub 2021 Jan 21. J Cell Mol Med. 2021. PMID: 33476483 Free PMC article.
The optic nerve: a "mito-window" on mitochondrial neurodegeneration.
Maresca A, la Morgia C, Caporali L, Valentino ML, Carelli V. Maresca A, et al. Among authors: carelli v. Mol Cell Neurosci. 2013 Jul;55(100):62-76. doi: 10.1016/j.mcn.2012.08.004. Epub 2012 Aug 15. Mol Cell Neurosci. 2013. PMID: 22960139 Free PMC article. Review.
Cybrid studies establish the causal link between the mtDNA m.3890G>A/MT-ND1 mutation and optic atrophy with bilateral brainstem lesions.
Caporali L, Ghelli AM, Iommarini L, Maresca A, Valentino ML, La Morgia C, Liguori R, Zanna C, Barboni P, De Nardo V, Martinuzzi A, Rizzo G, Tonon C, Lodi R, Calvaruso MA, Cappelletti M, Porcelli AM, Achilli A, Pala M, Torroni A, Carelli V. Caporali L, et al. Among authors: carelli v. Biochim Biophys Acta. 2013 Mar;1832(3):445-52. doi: 10.1016/j.bbadis.2012.12.002. Epub 2012 Dec 14. Biochim Biophys Acta. 2013. PMID: 23246842 Free PMC article.
Oncocytic glioblastoma: a glioblastoma showing oncocytic changes and increased mitochondrial DNA copy number.
Marucci G, Maresca A, Caporali L, Farnedi A, Betts CM, Morandi L, de Biase D, Cerasoli S, Foschini MP, Bonora E, Vidone M, Romeo G, Perli E, Giordano C, d'Amati G, Gasparre G, Baruzzi A, Carelli V, Eusebi V. Marucci G, et al. Among authors: carelli v. Hum Pathol. 2013 Sep;44(9):1867-76. doi: 10.1016/j.humpath.2013.02.014. Epub 2013 May 9. Hum Pathol. 2013. PMID: 23664543
Gamma rays induce a p53-independent mitochondrial biogenesis that is counter-regulated by HIF1α.
Bartoletti-Stella A, Mariani E, Kurelac I, Maresca A, Caratozzolo MF, Iommarini L, Carelli V, Eusebi LH, Guido A, Cenacchi G, Fuccio L, Rugolo M, Tullo A, Porcelli AM, Gasparre G. Bartoletti-Stella A, et al. Among authors: carelli v. Cell Death Dis. 2013 Jun 13;4(6):e663. doi: 10.1038/cddis.2013.187. Cell Death Dis. 2013. PMID: 23764844 Free PMC article.
Efficient mitochondrial biogenesis drives incomplete penetrance in Leber's hereditary optic neuropathy.
Giordano C, Iommarini L, Giordano L, Maresca A, Pisano A, Valentino ML, Caporali L, Liguori R, Deceglie S, Roberti M, Fanelli F, Fracasso F, Ross-Cisneros FN, D'Adamo P, Hudson G, Pyle A, Yu-Wai-Man P, Chinnery PF, Zeviani M, Salomao SR, Berezovsky A, Belfort R Jr, Ventura DF, Moraes M, Moraes Filho M, Barboni P, Sadun F, De Negri A, Sadun AA, Tancredi A, Mancini M, d'Amati G, Loguercio Polosa P, Cantatore P, Carelli V. Giordano C, et al. Among authors: carelli v. Brain. 2014 Feb;137(Pt 2):335-53. doi: 10.1093/brain/awt343. Epub 2013 Dec 24. Brain. 2014. PMID: 24369379 Free PMC article.
448 results