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Apoptotic proteolytic cleavage of the presenilins by caspases
1Genetics and Aging Unit, Massachusetts General Hospital, Harvard Medical School, Charlestown, MA.
Abstract:
Familial Alzheimer's disease (FAD) is a genetically heterogeneous disorder that is caused by defects in at least three early onset genes (age of onset:<60 yr.): presenilin 2 (PS2) on chromosome 1 (1), presenilin 1 (PS1) on chromosome 14 (2), and amyloid protein precursor (APP) on chromosome 21 (3,4). Mutations within the APP gene are responsible for only a small portion (<2%) of reported cases of FAD (5), whereas up to half of all early onset FAD cases are caused by mutations in the PSEN1 and PSEN2 genes (6,7).
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