Article
Cathepsin D polymorphism in Italian sporadic and familial Alzheimer's disease.
Neuroscience letters - 16 Aug 2002
Bagnoli Silvia, Nacmias Benedetta, Tedde Andrea, Guarnieri Bianca Maria, Cellini Elena, Ciantelli Monica, Petruzzi Concetta, Bartoli Antonella, Ortenzi Luigi, Serio Antonio, Sorbi Sandro
Abstract excerpt
A recent study has shown that a genetic variation in the Cathepsin D (catD) gene is a major risk factor for the development of Alzheimer's disease (AD). CatD is an intracellular aspartyl protease involved in neurodegeneration. A C-->T (Ala-->Val) transition at position 224 has been associated with altered intracellular maturation. Recently, a significant overrepresentation of the T allele of the catD gene in AD...
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