Presenilin-2 and mutations thereof

Details Presenilin-2 and mutations thereof Presenilin-2 and mutations thereof

1998-07-29

2000-09-12

Carlson, Karen Cochrane

Chemistry: natural resins or derivatives; peptides or proteins;

Proteins, i.e., more than 100 amino acid residues

C07K 1400

Patent

active

061179787

ABSTRACT:
The present invention describes the identification, isolation and cloning of two human presenilin genes, PS-1 and PS-2, mutations in which lead to Familial Alzheimer's Disease. Also identified are presenilin homologue genes in mice, C. elegans and D. melanogaster. Transcripts and products of these genes are useful in detecting and diagnosing Alzheimer's disease, developing therapeutics for treatment of Alzheimer's disease, as well as the isolation and manufacture of the protein and the constructions of transgenic animals expressing the mutant genes.

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