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An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.
Adler A, Novelli V, Amin AS, Abiusi E, Care M, Nannenberg EA, Feilotter H, Amenta S, Mazza D, Bikker H, Sturm AC, Garcia J, Ackerman MJ, Hershberger RE, Perez MV, Zareba W, Ware JS, Wilde AAM, Gollob MH. Adler A, et al. Among authors: mazza d. Circulation. 2020 Feb 11;141(6):418-428. doi: 10.1161/CIRCULATIONAHA.119.043132. Epub 2020 Jan 27. Circulation. 2020. PMID: 31983240 Free PMC article.
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ, Koňaříková E, Giancaspero TA, Mosegaard S, Boczonadi V, Mataković L, Veauville-Merllié A, Terrile C, Schwarzmayr T, Haack TB, Auranen M, Leone P, Galluccio M, Imbard A, Gutierrez-Rios P, Palmfeldt J, Graf E, Vianey-Saban C, Oppenheim M, Schiff M, Pichard S, Rigal O, Pyle A, Chinnery PF, Konstantopoulou V, Möslinger D, Feichtinger RG, Talim B, Topaloglu H, Coskun T, Gucer S, Botta A, Pegoraro E, Malena A, Vergani L, Mazzà D, Zollino M, Ghezzi D, Acquaviva C, Tyni T, Boneh A, Meitinger T, Strom TM, Gregersen N, Mayr JA, Horvath R, Barile M, Prokisch H. Olsen RKJ, et al. Among authors: mazza d. Am J Hum Genet. 2016 Jun 2;98(6):1130-1145. doi: 10.1016/j.ajhg.2016.04.006. Am J Hum Genet. 2016. PMID: 27259049 Free PMC article.
PCAF ubiquitin ligase activity inhibits Hedgehog/Gli1 signaling in p53-dependent response to genotoxic stress.
Mazzà D, Infante P, Colicchia V, Greco A, Alfonsi R, Siler M, Antonucci L, Po A, De Smaele E, Ferretti E, Capalbo C, Bellavia D, Canettieri G, Giannini G, Screpanti I, Gulino A, Di Marcotullio L. Mazzà D, et al. Cell Death Differ. 2013 Dec;20(12):1688-97. doi: 10.1038/cdd.2013.120. Epub 2013 Sep 6. Cell Death Differ. 2013. PMID: 24013724 Free PMC article.
Itch/β-arrestin2-dependent non-proteolytic ubiquitylation of SuFu controls Hedgehog signalling and medulloblastoma tumorigenesis.
Infante P, Faedda R, Bernardi F, Bufalieri F, Lospinoso Severini L, Alfonsi R, Mazzà D, Siler M, Coni S, Po A, Petroni M, Ferretti E, Mori M, De Smaele E, Canettieri G, Capalbo C, Maroder M, Screpanti I, Kool M, Pfister SM, Guardavaccaro D, Gulino A, Di Marcotullio L. Infante P, et al. Among authors: mazza d. Nat Commun. 2018 Mar 7;9(1):976. doi: 10.1038/s41467-018-03339-0. Nat Commun. 2018. PMID: 29515120 Free PMC article.
Molecular organization of the cullin E3 ligase adaptor KCTD11.
Correale S, Pirone L, Di Marcotullio L, De Smaele E, Greco A, Mazzà D, Moretti M, Alterio V, Vitagliano L, Di Gaetano S, Gulino A, Pedone EM. Correale S, et al. Among authors: mazza d. Biochimie. 2011 Apr;93(4):715-24. doi: 10.1016/j.biochi.2010.12.014. Epub 2011 Jan 13. Biochimie. 2011. PMID: 21237243
Cullin3-BTB interface: a novel target for stapled peptides.
de Paola I, Pirone L, Palmieri M, Balasco N, Esposito L, Russo L, Mazzà D, Di Marcotullio L, Di Gaetano S, Malgieri G, Vitagliano L, Pedone E, Zaccaro L. de Paola I, et al. Among authors: mazza d. PLoS One. 2015 Apr 7;10(4):e0121149. doi: 10.1371/journal.pone.0121149. eCollection 2015. PLoS One. 2015. PMID: 25848797 Free PMC article.
466 results