Article
[From gene to disease; presenilins and Alzheimer disease].
Nederlands tijdschrift voor geneeskunde - 20 Oct 2001
Roos R A, Cruts M
Abstract excerpt
A very small percentage (less than 5%) of all cases of Alzheimer's disease are autosomal dominant inherited and caused by a mutation in the presenilin protein (PS). The mutations are found on chromosome 14 (PS1) and chromosome 1 (PS2). Although the exact function of presenilin is still unknown, it seems to function as gamma-secretase or as a cofactor for it. This upsets the metabolic balance around the...
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