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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: morbin m. 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: 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
Loss of exosomes in progranulin-associated frontotemporal dementia.
Benussi L, Ciani M, Tonoli E, Morbin M, Palamara L, Albani D, Fusco F, Forloni G, Glionna M, Baco M, Paterlini A, Fostinelli S, Santini B, Galbiati E, Gagni P, Cretich M, Binetti G, Tagliavini F, Prosperi D, Chiari M, Ghidoni R. Benussi L, et al. Among authors: morbin m. Neurobiol Aging. 2016 Apr;40:41-49. doi: 10.1016/j.neurobiolaging.2016.01.001. Epub 2016 Jan 7. Neurobiol Aging. 2016. PMID: 26973102
Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau.
Bugiani O, Murrell JR, Giaccone G, Hasegawa M, Ghigo G, Tabaton M, Morbin M, Primavera A, Carella F, Solaro C, Grisoli M, Savoiardo M, Spillantini MG, Tagliavini F, Goedert M, Ghetti B. Bugiani O, et al. Among authors: morbin m. J Neuropathol Exp Neurol. 1999 Jun;58(6):667-77. doi: 10.1097/00005072-199906000-00011. J Neuropathol Exp Neurol. 1999. PMID: 10374757
93 results