Ontology highlight
ABSTRACT:
SUBMITTER: Zhang C
PROVIDER: S-EPMC3260056 | biostudies-literature | 2010 Feb
REPOSITORIES: biostudies-literature
Zhang Can C Browne Andrew A Kim Doo Yeon DY Tanzi Rudolph E RE
Current Alzheimer research 20100201 1
Alzheimer's disease (AD) is an insidious and progressive disease with a genetically complex and heterogenous etiology. More than 200 fully penetrant mutations in the amyloid beta-protein precursor (APP), presenilin 1 (or PSEN1), and presenilin 2 (PSEN2) have been linked to early-onset familial AD (FAD). 177 PSEN1 FAD mutations have been identified so far and account for more than approximately 80% of all FAD mutations. All PSEN1 FAD mutations can increase the Abeta42:Abeta40 ratio with seemingly ...[more]