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WO1998001549A3 - Genetic sequences and proteins related to alzheimer's disease, and uses therefor - Google Patents

Genetic sequences and proteins related to alzheimer's disease, and uses therefor Download PDF

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Publication number
WO1998001549A3
WO1998001549A3 PCT/CA1997/000475 CA9700475W WO9801549A3 WO 1998001549 A3 WO1998001549 A3 WO 1998001549A3 CA 9700475 W CA9700475 W CA 9700475W WO 9801549 A3 WO9801549 A3 WO 9801549A3
Authority
WO
WIPO (PCT)
Prior art keywords
disease
alzheimer
presenilin
disclosed
protein
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Ceased
Application number
PCT/CA1997/000475
Other languages
French (fr)
Other versions
WO1998001549A2 (en
Inventor
George-Hyslop Peter H St
Paul E Fraser
Johanna M Rommens
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
HSC Research and Development LP
University of Toronto
Original Assignee
HSC Research and Development LP
University of Toronto
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by HSC Research and Development LP, University of Toronto filed Critical HSC Research and Development LP
Priority to AU32519/97A priority Critical patent/AU3251997A/en
Priority to EP97928092A priority patent/EP0914428A2/en
Priority to JP10504606A priority patent/JP2000516087A/en
Publication of WO1998001549A2 publication Critical patent/WO1998001549A2/en
Publication of WO1998001549A3 publication Critical patent/WO1998001549A3/en
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/63—Introduction of foreign genetic material using vectors; Vectors; Use of hosts therefor; Regulation of expression
    • C12N15/79—Vectors or expression systems specially adapted for eukaryotic hosts
    • C12N15/85—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells
    • C12N15/8509—Vectors or expression systems specially adapted for eukaryotic hosts for animal cells for producing genetically modified animals, e.g. transgenic
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027—New or modified breeds of vertebrates
    • A01K67/0275—Genetically modified vertebrates, e.g. transgenic
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/027—New or modified breeds of vertebrates
    • A01K67/0275—Genetically modified vertebrates, e.g. transgenic
    • A01K67/0278—Knock-in vertebrates, e.g. humanised vertebrates
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/60—New or modified breeds of invertebrates
    • A01K67/61—Genetically modified invertebrates, e.g. transgenic or polyploid
    • A01K67/63—Genetically modified worms
    • A01K67/64—Genetically modified nematodes
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00—Rearing or breeding animals, not otherwise provided for; New or modified breeds of animals
    • A01K67/60—New or modified breeds of invertebrates
    • A01K67/61—Genetically modified invertebrates, e.g. transgenic or polyploid
    • A01K67/65—Genetically modified arthropods
    • A01K67/68—Genetically modified insects
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00—Drugs for disorders of the nervous system
    • A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/46—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates
    • C07K14/47—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals
    • C07K14/4701—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans from vertebrates from mammals not used
    • C07K14/4711—Alzheimer's disease; Amyloid plaque core protein
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2207/00—Modified animals
    • A01K2207/15—Humanized animals
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00—Genetically modified animals
    • A01K2217/20—Animal model comprising regulated expression system
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2227/00—Animals characterised by species
    • A01K2227/10—Mammal
    • A01K2227/105—Murine
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2267/00—Animals characterised by purpose
    • A01K2267/03—Animal model, e.g. for test or diseases
    • A01K2267/0306—Animal model for genetic diseases
    • A01K2267/0312—Animal model for Alzheimer's disease
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K48/00—Medicinal preparations containing genetic material which is inserted into cells of the living body to treat genetic diseases; Gene therapy
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N2799/00—Uses of viruses
    • C12N2799/02—Uses of viruses as vector
    • C12N2799/021—Uses of viruses as vector for the expression of a heterologous nucleic acid

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Environmental Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Chemical & Material Sciences (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biomedical Technology (AREA)
  • Organic Chemistry (AREA)
  • Animal Behavior & Ethology (AREA)
  • Biodiversity & Conservation Biology (AREA)
  • Animal Husbandry (AREA)
  • Biotechnology (AREA)
  • Veterinary Medicine (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Neurology (AREA)
  • Medicinal Chemistry (AREA)
  • Neurosurgery (AREA)
  • Biochemistry (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Plant Pathology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Physics & Mathematics (AREA)
  • Psychiatry (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • General Chemical & Material Sciences (AREA)
  • Public Health (AREA)
  • Microbiology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Hospice & Palliative Care (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)

Abstract

The identification, isolation, sequencing and characterization of two human presenilin genes, PS-1 and PS-2, mutations of which lead to Familial Alzheimer's Disease, are disclosed. Presenilin gene homologs in mice, C. elegans and D. melanogaster are also disclosed. Use of the nucleic acids and proteins comprising or derived from the presenilins in screening and diagnosing Alzheimer's Disease, identifying and developing therapeutics for treatment of Alzheimer's Disease, in producing cell lines and transgenic animals useful as models of Alzheimer's Disease. Methods for identifying substances that bind to, or modulate the activity of, a presenilin protein, functional fragment or variant thereof, or a mutein thereof, and methods for identifying substances that affect the interaction of a presenilin-interacting protein with a presenilin protein, functional fragment or variant thereof, or a mutein thereof, are further disclosed.
PCT/CA1997/000475 1996-07-05 1997-07-04 Genetic sequences and proteins related to alzheimer's disease, and uses therefor Ceased WO1998001549A2 (en)

Priority Applications (3)

Application Number Priority Date Filing Date Title
AU32519/97A AU3251997A (en) 1996-07-05 1997-07-04 Genetic sequences and proteins related to Alzheimer's disease, and uses herefor
EP97928092A EP0914428A2 (en) 1996-07-05 1997-07-04 Genetic sequences and proteins related to alzheimer's disease, and uses therefor
JP10504606A JP2000516087A (en) 1996-07-05 1997-07-04 Gene sequences and proteins associated with Alzheimer's disease and uses thereof

Applications Claiming Priority (8)

Application Number Priority Date Filing Date Title
US2167396P 1996-07-05 1996-07-05
US2170096P 1996-07-12 1996-07-12
US2989596P 1996-11-08 1996-11-08
US3459097P 1997-01-02 1997-01-02
US60/034,590 1997-01-02
US60/029,895 1997-01-02
US60/021,700 1997-01-02
US60/021,673 1997-01-02

Publications (2)

Publication Number Publication Date
WO1998001549A2 WO1998001549A2 (en) 1998-01-15
WO1998001549A3 true WO1998001549A3 (en) 1998-04-09

Family

ID=27487030

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/CA1997/000475 Ceased WO1998001549A2 (en) 1996-07-05 1997-07-04 Genetic sequences and proteins related to alzheimer's disease, and uses therefor

Country Status (5)

Country Link
EP (1) EP0914428A2 (en)
JP (1) JP2000516087A (en)
AU (1) AU3251997A (en)
CA (1) CA2259618A1 (en)
WO (1) WO1998001549A2 (en)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0828003A3 (en) * 1996-09-06 2003-01-15 SmithKline Beecham plc Human serine protease
US7585622B1 (en) 1996-10-01 2009-09-08 Geron Corporation Increasing the proliferative capacity of cells using telomerase reverse transcriptase
US6258929B1 (en) 1996-12-02 2001-07-10 Brigham & Women's Hospital Alarm related peptides and nucleic acids and diagnosis using them
US6383758B1 (en) 1998-01-09 2002-05-07 The Governing Council Of The University Of Toronto Alzheimer's related proteins and methods of use
US6664443B1 (en) 1998-05-01 2003-12-16 Mayo Foundation For Medical Education And Research Pathogenic Tau mutations in transgenic mice
US6475723B2 (en) 1998-05-01 2002-11-05 Mayo Foundation For Medical Education And Research Pathogenic tau mutations
JP2001017028A (en) * 1999-05-06 2001-01-23 Mitsubishi Chemicals Corp Apo E humanized mammal
CN100422334C (en) * 2001-11-27 2008-10-01 内克西特股份有限公司 Production of eukaryotic proteins and nucleic acid molecules in Caenorhabditis elegans
US6802170B2 (en) 2002-01-07 2004-10-12 Kurt K. Davis Box beam and method for fabricating same
JP2023523823A (en) 2020-05-01 2023-06-07 カシーヴ バイオサイエンシズ，リミテッド・ライアビリティ・カンパニー Improved process of protein purification
AU2022244505A1 (en) * 2021-03-23 2023-02-09 Kashiv Biosciences, Llc An extraction process of pancrelipase and evaluation threof

Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1996034099A2 (en) * 1995-04-28 1996-10-31 Hsc Research And Development Limited Partnership Genetic sequences and proteins related to alzheimer's disease, and uses therefor
WO1997003086A1 (en) * 1995-07-13 1997-01-30 University Of South Florida Early onset alzheimer's disease gene and gene products
WO1997003999A1 (en) * 1995-07-18 1997-02-06 Washington University School Of Medicine Mutant s182 genes
WO1997008319A1 (en) * 1995-08-31 1997-03-06 The General Hospital Corporation Genetic alterations related to familial alzheimer's disease
WO1997046678A1 (en) * 1996-06-06 1997-12-11 Bayer Corporation Nucleic acids and polypeptides related to presenilin

Patent Citations (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1996034099A2 (en) * 1995-04-28 1996-10-31 Hsc Research And Development Limited Partnership Genetic sequences and proteins related to alzheimer's disease, and uses therefor
WO1997003086A1 (en) * 1995-07-13 1997-01-30 University Of South Florida Early onset alzheimer's disease gene and gene products
WO1997003999A1 (en) * 1995-07-18 1997-02-06 Washington University School Of Medicine Mutant s182 genes
WO1997008319A1 (en) * 1995-08-31 1997-03-06 The General Hospital Corporation Genetic alterations related to familial alzheimer's disease
WO1997046678A1 (en) * 1996-06-06 1997-12-11 Bayer Corporation Nucleic acids and polypeptides related to presenilin

Non-Patent Citations (10)

* Cited by examiner, † Cited by third party
Title
ADAMS, M.D., ET AL .: "INITIAL ASSESSMENT OF HUMAN GENE DIVERSITY AND EXPRESSION PATTERNS BASED UPON 83 MILLION NUCLEOTIDES OF cDNA SEQUENCE", EMBL SEQUENCE DATA LIBRARY, 18 April 1997 (1997-04-18), HEIDELBERG, GERMANY, XP002054519 *
ADAMS, M.D.: "UNPUBLISHED", EMBL SEQUENCE DATA LIBRARY, 1 June 1996 (1996-06-01), HEIDELBERG, GERMANY, XP002054517 *
ANN, D.K., ET AL .: "RETINOL-REGULATED GENE EXPRESSION IN HUMAN TRACHEOBRONCHIAL EPITHELIAL CELLS", THE JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 263, no. 8, 15 March 1988 (1988-03-15), pages 3546 - 3549, XP002054515 *
ANWAR R ET AL: "MOLECULAR ANALYSIS OF THE PRESENILIN 1 (S182) GENE IN "SPORADIC" CASES OF ALZHEIMER'S DISEASE: IDENTIFICATION AND CHARACTERISATION OF UNUSUAL SPLICE VARIANTS", JOURNAL OF NEUROCHEMISTRY, vol. 66, no. 4, April 1996 (1996-04-01), pages 1774 - 1777, XP002042859 *
CLARK, R.F., ET AL.: "THE STRUCTURE OF THE PRESENILIN 1 (s182) GENE AND IDENTIFICATION OF SIX NOVEL MUTATIONS IN EARLY ONSET AD FAMILIES", NATURE GENETICS, vol. 11, October 1995 (1995-10-01), pages 219 - 221, XP002042861 *
HILLIER, L., ET AL.: "THE WASHU-MERCK EST PROJECT", EMBL SEQUENCE DATA LIBRARY, 27 June 1996 (1996-06-27), HEIDELBERG, GERMANY, XP002054518 *
ROGAEV E I ET AL: "FAMILIAL ALZHEIMER'S DISEASE IN KINDREDS WITH MISSENSE MUTATIONS IN A GENE ON CHROMOSOME 1 RELATED TO THE ALZHEIMER'S DISEASE TYPE 3 GENE", NATURE, vol. 376, 31 August 1995 (1995-08-31), pages 775 - 778, XP000196835 *
SHERRINGTON, R., ET AL.: "CLONING A GENE BEARING MISSENSE MUTATIONS IN EARLY-ONSET FAMILIAL ALZHEIMER'S DISEASE", EMBL SEQUENCE DATA LIBRARY, 15 July 1995 (1995-07-15), HEIDELBERG, GERMANY, XP002054514 *
SHERRINGTON, R., ET AL.: "CLONING OF A GENE BEARING MISSENSE MUTATIONS IN EARLY-ONSET FAMILIAL ALZHEIMER'S DISEASE", NATURE, vol. 375, 29 June 1995 (1995-06-29), pages 754 - 760, XP002030378 *
TSURUMI, C., ET AL .: "cDNA CLONING OF p40, A REGULATORY SUBUNIT OF THE HUMAN 26S PROTEASOME , AND HOMOLOG OF THE Mov-34 GENE PRODUCT", BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, vol. 210, no. 2, 1995, pages 600 - 608, XP002054516 *

Also Published As

Publication number Publication date
WO1998001549A2 (en) 1998-01-15
EP0914428A2 (en) 1999-05-12
CA2259618A1 (en) 1998-01-15
JP2000516087A (en) 2000-12-05
AU3251997A (en) 1998-02-02

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