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A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
Di Fede G, Catania M, Morbin M, Rossi G, Suardi S, Mazzoleni G, Merlin M, Giovagnoli AR, Prioni S, Erbetta A, Falcone C, Gobbi M, Colombo L, Bastone A, Beeg M, Manzoni C, Francescucci B, Spagnoli A, Cantù L, Del Favero E, Levy E, Salmona M, Tagliavini F. Di Fede G, et al. Among authors: morbin m. Science. 2009 Mar 13;323(5920):1473-7. doi: 10.1126/science.1168979. Science. 2009. PMID: 19286555 Free PMC article.
Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
Bugiani O, Giaccone G, Rossi G, Mangieri M, Capobianco R, Morbin M, Mazzoleni G, Cupidi C, Marcon G, Giovagnoli A, Bizzi A, Di Fede G, Puoti G, Carella F, Salmaggi A, Romorini A, Patruno GM, Magoni M, Padovani A, Tagliavini F. Bugiani O, et al. Among authors: morbin m. Arch Neurol. 2010 Aug;67(8):987-95. doi: 10.1001/archneurol.2010.178. Arch Neurol. 2010. PMID: 20697050
Good gene, bad gene: new APP variant may be both.
Di Fede G, Catania M, Morbin M, Giaccone G, Moro ML, Ghidoni R, Colombo L, Messa M, Cagnotto A, Romeo M, Stravalaci M, Diomede L, Gobbi M, Salmona M, Tagliavini F. Di Fede G, et al. Among authors: morbin m. Prog Neurobiol. 2012 Dec;99(3):281-92. doi: 10.1016/j.pneurobio.2012.06.004. Epub 2012 Jun 19. Prog Neurobiol. 2012. PMID: 22727994 Review.
APP mutations in the Aβ coding region are associated with abundant cerebral deposition of Aβ38.
Moro ML, Giaccone G, Lombardi R, Indaco A, Uggetti A, Morbin M, Saccucci S, Di Fede G, Catania M, Walsh DM, Demarchi A, Rozemuller A, Bogdanovic N, Bugiani O, Ghetti B, Tagliavini F. Moro ML, et al. Among authors: morbin m. Acta Neuropathol. 2012 Dec;124(6):809-21. doi: 10.1007/s00401-012-1061-x. Epub 2012 Nov 13. Acta Neuropathol. 2012. PMID: 23143229
The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly.
Messa M, Colombo L, del Favero E, Cantù L, Stoilova T, Cagnotto A, Rossi A, Morbin M, Di Fede G, Tagliavini F, Salmona M. Messa M, et al. Among authors: morbin m. J Biol Chem. 2014 Aug 29;289(35):24143-52. doi: 10.1074/jbc.M114.576256. Epub 2014 Jul 18. J Biol Chem. 2014. PMID: 25037228 Free PMC article.
Tackling amyloidogenesis in Alzheimer's disease with A2V variants of Amyloid-β.
Di Fede G, Catania M, Maderna E, Morbin M, Moda F, Colombo L, Rossi A, Cagnotto A, Virgilio T, Palamara L, Ruggerone M, Giaccone G, Campagnani I, Costanza M, Pedotti R, Salvalaglio M, Salmona M, Tagliavini F. Di Fede G, et al. Among authors: morbin m. Sci Rep. 2016 Feb 11;6:20949. doi: 10.1038/srep20949. Sci Rep. 2016. PMID: 26864599 Free PMC article.
93 results