Article
Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population.
Neurobiology of aging - 1 Nov 2007
Albani Diego, Roiter Ignazio, Artuso Vladimiro, Batelli Sara, Prato Francesca, Pesaresi Marzia, Galimberti Daniela, Scarpini Elio, Bruni Amalia, Franceschi Massimo, Piras Maria Rita, Confaloni Annamaria, Forloni Gianluigi
Abstract excerpt
Presenilin-1 (PSEN-1) is a component of the gamma-secretase complex involved in beta-amyloid precursor protein (betaAPP) processing. To date about 140 pathogenic mutations in the PSEN-1 gene have been identified and their main biochemical effect is to increase the production of the fibrillogenic peptide Abeta(1-42). An exception is the PSEN-1 [E318G] mutation that does not alter Abeta(1-42) generation and is...
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