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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.
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.
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.
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
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: morbin m. 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.
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