Article
Different mutations at V363 MAPT codon are associated with atypical clinical phenotypes and show unusual structural and functional features.
Neurobiology of aging - 1 Feb 2014
Rossi Giacomina, Bastone Antonio, Piccoli Elena, Morbin Michela, Mazzoleni Giulia, Fugnanesi Valeria, Beeg Marten, Del Favero Elena, Cantù Laura, Motta Simona, Salsano Ettore, Pareyson Davide, Erbetta Alessandra, Elia Antonio Emanuele, Del Sorbo Francesca, Silani Vincenzo, Morelli Claudia, Salmona Mario, Tagliavini Fabrizio
Abstract excerpt
Microtubule-associated protein tau gene (MAPT) is one of the major genes linked to frontotemporal lobar degeneration, a group of neurodegenerative diseases clinically, pathologically, and genetically heterogeneous. In particular, MAPT mutations give rise to the subgroup of tauopathies. The pathogenetic mechanisms underlying the MAPT mutations so far described are the decreased ability of tau protein to promote...
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