Chemistry: natural resins or derivatives; peptides or proteins; – Proteins – i.e. – more than 100 amino acid residues
Patent
1996-01-26
1999-11-16
Carlson, Karen
Chemistry: natural resins or derivatives; peptides or proteins;
Proteins, i.e., more than 100 amino acid residues
435 691, C07K 1400, C12P 2106
Patent
active
059860545
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.
REFERENCES:
patent: 5262332 (1993-11-01), Selkoe
patent: 5297562 (1994-03-01), Potter
Barinaga, Marcia, "New Alzheimer's Gene Found," Science, vol. 268:1845-1846 (1995).
Barinago, Marcia, "Missing Alzheimer's Gene Found," Science vol. 269:81-92 (1995).
Campion, et al., "Mutations of the presenilin I gene in families with early-onset Alzheimer's disease," Human Molecular Genetics, vol. 4, No. 12:2373-2377 (1995).
Chartier-Harlin, et al., "Early onset Alzheimer's disease caused by mutations at codon 717 of the .beta.-amyloid precursor protein gene," Nature, vol. 353:844-846 (1991).
Cruts, et al., "Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3," Human Molecular Genetics, vol. 4, No. 12:2363-2371 (1995).
Foncin, et al., "Alzheimer's Presenile dementia transmitted in an exteneded kindred," Rev. Neurol (Paris), vol. 141:194-202 (1985).
Goate, et al., "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease," Nature, vol. 349:704-706 (1991).
Goudsmit, et al., "Familial Alzheimer's Disease in two kindreds of the same geographic and ethnic origin: a clinical and genetic study," J. Neurol. Sci., vol. 49:79-89 (1981).
Gyapay, et al., "The 1993-94 Genethon human genetic linkage map," Nature Genetics, vol. 7:246-311 (1994).
Karlinsky, et al., "Molecular and prospective phenotypic characterization of a pedigree with familial Alzheimer's disease and a missense mutation in codon 717 of the .beta.-amyloid precursor protein (APP) gene," Neurology, vol. 42:1445-1453 (1992).
Katzman, R., "Alzheimer's Disease," N.Eng.J.Med., vol. 314:964-973, (1986).
Levy-Lahad, et al., "A Familiar Alzheimer's Disease Locus on Chromosome I," Science, vol. 269:970-973 (1995).
Levy-Lahad, et al., "Candidate Gene for the Chromsome I Familial Alzheimer's Disease Locus," Science, vol. 269:973-977 (1995).
Mullan, et al., "A pathogenic mutation for probable Alzheimer's disease in the APP gene at the N-terminus of .beta.-amyloid," Nature Genetics, vol. 1:345-347 (1992).
Mullan, et al., "A locus for familial early-onset Alzheimer's disease on the long arm of chromosome 14, proximal to the .alpha.l-antichymotrypsin gene," Nature Genetics, vol. 2:340-342 (1992).
Murrell, et al., "A mutation in the amyloid precursor protein associated with hereditary Alzheimer's Disease," Science, vol. 254:97-99 (1991).
Nee, et al., "A family with histolgically confirmed Alzheimer's Disease," Arch. Neurol, vol. 40:203-208 (1983).
Pericak-Vance, et al., "Genetic linkage studies in Alzheimer's Disease families," Exp. Neurol, vol. 102:271-279 (1988).
Rogaev, et al., "Analysis of the c-FOS gene on chromosome 14 and the promoter of the amyloid precursor protein gene in familial Alzheimer's disease," Neurology, vol. 43:2275-2279 (1993).
Rogeav, et al., "Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome I related to the Alzheimer's disease type 3 gene," Nature, vol. 376:775-778 (1995).
Rommens, et al., "A transcription map of the region containing the Huntington disease gene," Hum. Molec. Genet., vol. 2:901-907 (1993).
Sherrington, et al., "Cloning of a gene bearing missence mutations in early-onset familial Alzheimer's disease," Nature, vol. 375:754-760 (1995).
St. George-Hyslop, et al., "Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder," Nature, vol. 347:194-197 (1990).
St. George-Hyslop, et al., "Genetic evidence for a novel familial Alzheimer's disease locus on chromosome 14," Nature Genetics, vol:2:330-334 (1992).
St. George-Hyslop, et al., "Alzheimers Disease and Possible Gene Interaction," Science, vol. 263:537 (1994).
Saunders, et al., "Association of apolipoprotein E allele e4 with the late-onset familial and sporadic Alzheimer's disease," Neurology, vol. 43:1467-1472 (1993).
Schellenberg, et al., "Genetic Linkage Evidence for a Familial Alzheimer's Disease Locus on Chromosome 14," Science, vol. 258:668-670 (1992).
Schellenberg, et al., "Chromosome 14 and Late-Onset Familial Alzheimer Disease (FAD)," Am. J. Hum. Genet., vol. 53:619-628 (1993).
Strittmatter, et al., "Apolipoprotein E: hgh avidity binding to .beta.-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer's disease," Proc. Nat'l. Acad. Sci. USA, vol. 90:1977-1981 (1993).
Van Broeckhoven, et al., "Mapping of a gene predisposing to early-onset Alzheimer's disease to chromosome 14q24.3," Nature Genetics, vol. 2:335-339 (1992).
Van Broeckhoven, Christine, "Presenilins and Alzheimer disease," Nature Genetics, vol. 11:230-232 (1995).
Wong, et al., "Mutation of the gene for the human lysosomal serine protease Cathepsin G is not the cause of aberrant APP processing in familial Alzheimer disease," Neurosci. Lett, vol. 152:96-98 (1993).
Fleischhauer, K., et al., EMBL Sequence Data Library, Mar. 31, 1992, Accession No. X63522.
YU, V.C., et al., EMBL Sequence Data Library, Dec. 10, 1991, Accession No. M81766.
Sevigny, G., et al., EMBL Sequence Data Library, Jan. 7, 1995, Accession No. U17104.
Johansson, E., et al., The Journal of Biological Chemistry, 270(35):20615-20620 (1995).
Pawlak, A., et al., EMBL Sequence Data Library, Dec. 20, 1994,Accession No. T18858.
Auffray, C., et al., EMBL Sequence Data Library, Feb. 17, 1995, Accession No. F08730.
Walkley, N.A., et al., EMBL Sequence Data Library, Jan. 1, 1994, Accession No. X74801.
Hillier, L., et al., EMBL Sequence Data Library, Apr. 22, 1995, Accession No. R12984.
Fujiwara, T., et al., EMBL Sequence Data Library, Aug. 25, 1995, Accession No. D55326.
Hillier, L., et al., EMBL Sequence Data Library, Mar. 6, 1995, Accession No. T64843.
Zahraoui, A., et al., EMBL Sequence Data Library, Jul. 22, 1994, Accession No. X56740.
Drivas, G.T., et al., EMBL Sequence Data Library, Feb. 19, 1991, Accession No. X53143.
Chambon, P., et al., EMBL Sequence Data Library, Feb. 7, 1992, Accession No. M84820.
Fraser Paul E.
Rommens Johanna M.
St. George-Hyslop Peter H.
Carlson Karen
The Governing Council of the University of Toronto
The Hospital for Sick Children, HSC Research and Development Lim
LandOfFree
Genetic sequences and proteins related to alzheimer's disease does not yet have a rating. At this time, there are no reviews or comments for this patent.
If you have personal experience with Genetic sequences and proteins related to alzheimer's disease, we encourage you to share that experience with our LandOfFree.com community. Your opinion is very important and Genetic sequences and proteins related to alzheimer's disease will most certainly appreciate the feedback.
Profile ID: LFUS-PAI-O-1326274