Ontology highlight
ABSTRACT:
SUBMITTER: Walter J
PROVIDER: S-EPMC15473 | biostudies-literature | 1999 Feb
REPOSITORIES: biostudies-literature
Walter J J Schindzielorz A A Grünberg J J Haass C C
Proceedings of the National Academy of Sciences of the United States of America 19990201 4
Mutations within the Presenilin-2 (PS-2) gene are associated with early onset familial Alzheimer's disease. The gene encodes a polytopic transmembrane protein that undergoes endoproteolytic processing resulting in the generation of N-terminal and C-terminal fragments (CTFs). PS-2 is also cleaved by proteases of the caspase family during apoptotic cell death. CTFs of PS-2 were shown to inhibit apoptosis, suggesting an important role in the regulation of programmed cell death. Recently, we found t ...[more]