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Page 1
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.
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization.
Porcelli AM, Ghelli A, Ceccarelli C, Lang M, Cenacchi G, Capristo M, Pennisi LF, Morra I, Ciccarelli E, Melcarne A, Bartoletti-Stella A, Salfi N, Tallini G, Martinuzzi A, Carelli V, Attimonelli M, Rugolo M, Romeo G, Gasparre G. Porcelli AM, et al. Among authors: capristo m. Hum Mol Genet. 2010 Mar 15;19(6):1019-32. doi: 10.1093/hmg/ddp566. Epub 2009 Dec 22. Hum Mol Genet. 2010. PMID: 20028790
A mutation threshold distinguishes the antitumorigenic effects of the mitochondrial gene MTND1, an oncojanus function.
Gasparre G, Kurelac I, Capristo M, Iommarini L, Ghelli A, Ceccarelli C, Nicoletti G, Nanni P, De Giovanni C, Scotlandi K, Betts CM, Carelli V, Lollini PL, Romeo G, Rugolo M, Porcelli AM. Gasparre G, et al. Among authors: capristo m. Cancer Res. 2011 Oct 1;71(19):6220-9. doi: 10.1158/0008-5472.CAN-11-1042. Epub 2011 Aug 18. Cancer Res. 2011. PMID: 21852384
Different mtDNA mutations modify tumor progression in dependence of the degree of respiratory complex I impairment.
Iommarini L, Kurelac I, Capristo M, Calvaruso MA, Giorgio V, Bergamini C, Ghelli A, Nanni P, De Giovanni C, Carelli V, Fato R, Lollini PL, Rugolo M, Gasparre G, Porcelli AM. Iommarini L, et al. Among authors: capristo m. Hum Mol Genet. 2014 Mar 15;23(6):1453-66. doi: 10.1093/hmg/ddt533. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163135
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy.
D'Angelo R, Rinaldi R, Carelli V, Boschetti E, Caporali L, Capristo M, Casali C, Cenacchi G, Gramegna LL, Lodi R, Pinna AD, Pironi L, Stanzani M, Tonon C, D'Alessandro R, De Giorgio R. D'Angelo R, et al. Among authors: capristo m. Neurol Sci. 2016 Jul;37(7):1149-51. doi: 10.1007/s10072-016-2552-7. Epub 2016 Mar 23. Neurol Sci. 2016. PMID: 27007276
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
De Giorgio R, Pironi L, Rinaldi R, Boschetti E, Caporali L, Capristo M, Casali C, Cenacchi G, Contin M, D'Angelo R, D'Errico A, Gramegna LL, Lodi R, Maresca A, Mohamed S, Morelli MC, Papa V, Tonon C, Tugnoli V, Carelli V, D'Alessandro R, Pinna AD. De Giorgio R, et al. Among authors: capristo m. Ann Neurol. 2016 Sep;80(3):448-55. doi: 10.1002/ana.24724. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27421916
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.
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: capristo m. Hum Mol Genet. 2020 Jul 21;29(11):1864-1881. doi: 10.1093/hmg/ddaa014. Hum Mol Genet. 2020. PMID: 31984424 Free PMC article.
28 results