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Page 1
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. 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
Genome-wide expression profiling and functional characterization of SCA28 lymphoblastoid cell lines reveal impairment in cell growth and activation of apoptotic pathways.
Mancini C, Roncaglia P, Brussino A, Stevanin G, Lo Buono N, Krmac H, Maltecca F, Gazzano E, Bartoletti Stella A, Calvaruso MA, Iommarini L, Cagnoli C, Forlani S, Le Ber I, Durr A, Brice A, Ghigo D, Casari G, Porcelli AM, Funaro A, Gasparre G, Gustincich S, Brusco A. Mancini C, et al. BMC Med Genomics. 2013 Jun 18;6:22. doi: 10.1186/1755-8794-6-22. BMC Med Genomics. 2013. PMID: 23777634 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. 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
Co-occurrence of amyotrophic lateral sclerosis and Leber's hereditary optic neuropathy: is mitochondrial dysfunction a modifier?
Amore G, Vacchiano V, La Morgia C, Valentino ML, Caporali L, Fiorini C, Ormanbekova D, Salvi F, Bartoletti-Stella A, Capellari S, Liguori R, Carelli V. Amore G, et al. Among authors: bartoletti stella a. J Neurol. 2023 Jan;270(1):559-564. doi: 10.1007/s00415-022-11355-w. Epub 2022 Sep 6. J Neurol. 2023. PMID: 36066624 Free PMC article. No abstract available.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Hum Mol Genet. 2015 May 15;24(10):2746-56. doi: 10.1093/hmg/ddv034. Epub 2015 Jan 30. Hum Mol Genet. 2015. PMID: 25637521 Free PMC article.
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
Bartoletti-Stella A, Gasparini L, Giacomini C, Corrado P, Terlizzi R, Giorgio E, Magini P, Seri M, Baruzzi A, Parchi P, Brusco A, Cortelli P, Capellari S. Bartoletti-Stella A, et al. Hum Mol Genet. 2017 Oct 1;26(19):3868. doi: 10.1093/hmg/ddx225. Hum Mol Genet. 2017. PMID: 28934398 Free PMC article. No abstract available.
Two novel PRNP truncating mutations broaden the spectrum of prion amyloidosis.
Capellari S, Baiardi S, Rinaldi R, Bartoletti-Stella A, Graziano C, Piras S, Calandra-Buonaura G, D'Angelo R, Terziotti C, Lodi R, Donadio V, Pironi L, Cortelli P, Parchi P. Capellari S, et al. Ann Clin Transl Neurol. 2018 Apr 26;5(6):777-783. doi: 10.1002/acn3.568. eCollection 2018 Jun. Ann Clin Transl Neurol. 2018. PMID: 29928661 Free PMC article.
49 results