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249 results

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Page 1
A clinically complex form of dominant optic atrophy (OPA8) maps on chromosome 16.
Carelli V, Schimpf S, Fuhrmann N, Valentino ML, Zanna C, Iommarini L, Papke M, Schaich S, Tippmann S, Baumann B, Barboni P, Longanesi L, Rugolo M, Ghelli A, Alavi MV, Youle RJ, Bucchi L, Carroccia R, Giannoccaro MP, Tonon C, Lodi R, Cenacchi G, Montagna P, Liguori R, Wissinger B. Carelli V, et al. Among authors: cenacchi g. Hum Mol Genet. 2011 May 15;20(10):1893-905. doi: 10.1093/hmg/ddr071. Epub 2011 Feb 24. Hum Mol Genet. 2011. PMID: 21349918
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function.
Spinazzi M, Cazzola S, Bortolozzi M, Baracca A, Loro E, Casarin A, Solaini G, Sgarbi G, Casalena G, Cenacchi G, Malena A, Frezza C, Carrara F, Angelini C, Scorrano L, Salviati L, Vergani L. Spinazzi M, et al. Among authors: cenacchi g. Hum Mol Genet. 2008 Nov 1;17(21):3291-302. doi: 10.1093/hmg/ddn225. Epub 2008 Aug 4. Hum Mol Genet. 2008. PMID: 18678599
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: cenacchi g. 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
Somatic complex I disruptive mitochondrial DNA mutations are modifiers of tumorigenesis that correlate with low genomic instability in pituitary adenomas.
Kurelac I, MacKay A, Lambros MB, Di Cesare E, Cenacchi G, Ceccarelli C, Morra I, Melcarne A, Morandi L, Calabrese FM, Attimonelli M, Tallini G, Reis-Filho JS, Gasparre G. Kurelac I, et al. Among authors: cenacchi g. Hum Mol Genet. 2013 Jan 15;22(2):226-38. doi: 10.1093/hmg/dds422. Epub 2012 Oct 9. Hum Mol Genet. 2013. PMID: 23049073
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: cenacchi g. Cell Death Dis. 2013 Jun 13;4(6):e663. doi: 10.1038/cddis.2013.187. Cell Death Dis. 2013. PMID: 23764844 Free PMC article.
A mutation in PAK3 with a dual molecular effect deregulates the RAS/MAPK pathway and drives an X-linked syndromic phenotype.
Magini P, Pippucci T, Tsai IC, Coppola S, Stellacci E, Bartoletti-Stella A, Turchetti D, Graziano C, Cenacchi G, Neri I, Cordelli DM, Marchiani V, Bergamaschi R, Gasparre G, Neri G, Mazzanti L, Patrizi A, Franzoni E, Romeo G, Bordo D, Tartaglia M, Katsanis N, Seri M. Magini P, et al. Among authors: cenacchi g. Hum Mol Genet. 2014 Jul 1;23(13):3607-17. doi: 10.1093/hmg/ddu070. Epub 2014 Feb 19. Hum Mol Genet. 2014. PMID: 24556213
Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.
Boschetti E, D'Alessandro R, Bianco F, Carelli V, Cenacchi G, Pinna AD, Del Gaudio M, Rinaldi R, Stanghellini V, Pironi L, Rhoden K, Tugnoli V, Casali C, De Giorgio R. Boschetti E, et al. Among authors: cenacchi g. PLoS One. 2014 May 6;9(5):e96692. doi: 10.1371/journal.pone.0096692. eCollection 2014. PLoS One. 2014. PMID: 24802030 Free PMC article.
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy.
Pippucci T, Maresca A, Magini P, Cenacchi G, Donadio V, Palombo F, Papa V, Incensi A, Gasparre G, Valentino ML, Preziuso C, Pisano A, Ragno M, Liguori R, Giordano C, Tonon C, Lodi R, Parmeggiani A, Carelli V, Seri M. Pippucci T, et al. Among authors: cenacchi g. EMBO Mol Med. 2015 Jun;7(6):848-58. doi: 10.15252/emmm.201404399. EMBO Mol Med. 2015. PMID: 25870235 Free PMC article.
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: cenacchi g. 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: cenacchi g. Ann Neurol. 2016 Sep;80(3):448-55. doi: 10.1002/ana.24724. Epub 2016 Aug 4. Ann Neurol. 2016. PMID: 27421916
249 results