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Page 1
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.
Rossi G, Bastone A, Piccoli E, Morbin M, Mazzoleni G, Fugnanesi V, Beeg M, Del Favero E, Cantù L, Motta S, Salsano E, Pareyson D, Erbetta A, Elia AE, Del Sorbo F, Silani V, Morelli C, Salmona M, Tagliavini F. Rossi G, et al. Among authors: mazzoleni g. Neurobiol Aging. 2014 Feb;35(2):408-17. doi: 10.1016/j.neurobiolaging.2013.08.004. Epub 2013 Sep 7. Neurobiol Aging. 2014. PMID: 24018212
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: mazzoleni g. 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: mazzoleni g. Arch Neurol. 2010 Aug;67(8):987-95. doi: 10.1001/archneurol.2010.178. Arch Neurol. 2010. PMID: 20697050
Gerstmann-Sträussler-Scheinker disease amyloid protein polymerizes according to the "dock-and-lock" model.
Gobbi M, Colombo L, Morbin M, Mazzoleni G, Accardo E, Vanoni M, Del Favero E, Cantù L, Kirschner DA, Manzoni C, Beeg M, Ceci P, Ubezio P, Forloni G, Tagliavini F, Salmona M. Gobbi M, et al. Among authors: mazzoleni g. J Biol Chem. 2006 Jan 13;281(2):843-9. doi: 10.1074/jbc.M506164200. Epub 2005 Nov 10. J Biol Chem. 2006. PMID: 16286452 Free article.
Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein.
Salmona M, Morbin M, Massignan T, Colombo L, Mazzoleni G, Capobianco R, Diomede L, Thaler F, Mollica L, Musco G, Kourie JJ, Bugiani O, Sharma D, Inouye H, Kirschner DA, Forloni G, Tagliavini F. Salmona M, et al. Among authors: mazzoleni g. J Biol Chem. 2003 Nov 28;278(48):48146-53. doi: 10.1074/jbc.M307295200. Epub 2003 Sep 11. J Biol Chem. 2003. PMID: 12970341 Free article.
334 results