Article
The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism.
Proceedings of the National Academy of Sciences of the United States of America - 9 Jan 2007
Shen Jie, Kelleher Raymond J
Abstract excerpt
Dominantly inherited mutations in the genes encoding presenilins (PS) and the amyloid precursor protein (APP) are the major causes of familial Alzheimer's disease (AD). The prevailing view of AD pathogenesis posits that accumulation of beta-amyloid (Abeta) peptides, particularly Abeta42, is the central event triggering neurodegeneration. Emerging evidence, however, suggests that loss of essential functions of PS...
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