Article
Evidence For and Against a Pathogenic Role of Reduced γ-Secretase Activity in Familial Alzheimer's Disease.
Journal of Alzheimer's disease : JAD - 4 Apr 2016
Jayne Tanya, Newman Morgan, Verdile Giuseppe, Sutherland Greg, Münch Gerald, Musgrave Ian, Moussavi Nik Seyyed Hani, Lardelli Michael
Abstract excerpt
The majority of mutations causing familial Alzheimer's disease (fAD) have been found in the gene PRESENILIN1 (PSEN1) with additional mutations in the related gene PRESENILIN2 (PSEN2). The best characterized function of PRESENILIN (PSEN) proteins is in γ-secretase enzyme activity. One substrate of γ-secretase is encoded by the gene AMYLOID BETA A4 PRECURSOR PROTEIN (AβPP/APP) that is a fAD mutation locus. AβPP is...
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