| titleOfInvention |
Isolated nucleic acid, method of identifying allelic variants of the human presenilin gene, host cell, model animal, method of producing the presenilin functional domain, essentially pure protein, essentially pure protein preparation, essentially pure polypeptide, substantially pure polypeptide preparation, essentially pure antibody preparation, method of producing antibodies , cell line, method of identifying compounds, methods of diagnosis, pharmaceutical composition, use of expression vector, recombinant vector, transgenic animal |
| abstract |
The present invention describes the identification, isolation, sequencing and characterization of two human presenilin genes, PS-1 and PS-2, mutations which lead to Familial Alzheimer's Disease. Also identified are presenilin gene homologues in mice, C. elegans and D. melanogaster. Nucleic acids and proteins comprising or derived from the presenilins are useful in screening and diagnosing Alzheimer's Disease, in identifying and developing therapeutics for treatment of Alzheimer's Disease, and in producing cell lines and transgenic animals useful as models of Alzheimer's Disease. |