C - Chemistry – Metallurgy – 12 – N
Patent
C - Chemistry, Metallurgy
12
N
C12N 15/12 (2006.01) A01K 67/027 (2006.01) A01K 67/033 (2006.01) A61K 31/70 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) C07K 5/04 (2006.01) C07K 7/04 (2006.01) C07K 14/47 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12N 5/16 (2006.01) C12N 15/62 (2006.01) C12N 15/85 (2006.01) C12Q 1/00 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) A61K 38/00 (2006.01)
Patent
CA 2219214
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.
L'invention a trait à l'identification, à l'isolation, au séquençage et à la caractérisation de deux gènes de préséniline humaine PS-1 et PS-2 dont les mutations sont à l'origine de la maladie d'Alzheimer, et à l'identification de gènes homologues de la préséniline chez les souris C. elegans et D. melanogaster. Les acides nucléiques et les protéines contenant de la préséniline ou en dérivant s'avèrent utiles dans le dépistage et le diagnostic de la maladie d'Alzheimer, pour déterminer et mettre au point les thérapies correspondantes et pour produire des lignées de cellules et des animaux transgéniques pouvant servir de modèles pour la maladie d'Alzheimer.
Fraser Paul E.
Rommens Johanna M.
St. George-Hyslop Peter H.
Hsc Research And Development Limited Partnership
Sim & Mcburney
The Governing Council Of The University Of Toronto
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