IL101727A - Acid sphingomyelinase gene and diagnosis of niemann-pick disease - Google Patents

Acid sphingomyelinase gene and diagnosis of niemann-pick disease

Info

Publication number
IL101727A
IL101727A IL10172792A IL10172792A IL101727A IL 101727 A IL101727 A IL 101727A IL 10172792 A IL10172792 A IL 10172792A IL 10172792 A IL10172792 A IL 10172792A IL 101727 A IL101727 A IL 101727A
Authority
IL
Israel
Prior art keywords
niemann
diagnosis
pick disease
acid sphingomyelinase
sphingomyelinase gene
Prior art date
Application number
IL10172792A
Other languages
English (en)
Other versions
IL101727A0 (en
Original Assignee
Mount Sinai Medical Ct
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 Mount Sinai Medical Ct filed Critical Mount Sinai Medical Ct
Publication of IL101727A0 publication Critical patent/IL101727A0/xx
Publication of IL101727A publication Critical patent/IL101727A/xx

Links

Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K67/00—Rearing or breeding animals, not otherwise provided for; New breeds of animals
    • A01K67/027—New breeds of vertebrates
    • A01K67/0275—Genetically modified vertebrates, e.g. transgenic
    • A01K67/0278—Humanized animals, e.g. knockin
    • 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
    • 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
    • C12N9/00—Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14—Hydrolases (3)
    • C12N9/16—Hydrolases (3) acting on ester bonds (3.1)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; CARE OF BIRDS, FISHES, INSECTS; 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; CARE OF BIRDS, FISHES, INSECTS; 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; CARE OF BIRDS, FISHES, INSECTS; 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; CARE OF BIRDS, FISHES, INSECTS; 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; CARE OF BIRDS, FISHES, INSECTS; 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
    • A—HUMAN NECESSITIES
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/158—Expression markers
    • Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10—TECHNICAL SUBJECTS COVERED BY FORMER USPC
    • Y10S—TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
    • Y10S435/00—Chemistry: molecular biology and microbiology
    • Y10S435/81—Packaged device or kit
IL10172792A 1991-05-03 1992-04-29 Acid sphingomyelinase gene and diagnosis of niemann-pick disease IL101727A (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US07/695,472 US5773278A (en) 1991-05-03 1991-05-03 Acid sphingomyelinase gene

Publications (2)

Publication Number Publication Date
IL101727A0 IL101727A0 (en) 1992-12-30
IL101727A true IL101727A (en) 2005-12-18

Family

ID=24793124

Family Applications (1)

Application Number Title Priority Date Filing Date
IL10172792A IL101727A (en) 1991-05-03 1992-04-29 Acid sphingomyelinase gene and diagnosis of niemann-pick disease

Country Status (4)

Country Link
US (4) US5773278A (xx)
EP (1) EP0520843B1 (xx)
DE (1) DE69231701T2 (xx)
IL (1) IL101727A (xx)

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ATE230759T1 (de) † 1995-12-18 2003-01-15 Myriad Genetics Inc Chromosom 13 verbundene brustkrebsempfindlichkeitsgen brca2
US6274309B1 (en) * 1996-07-26 2001-08-14 Richard Kolesnick Method for the modulation of acid-sphingomyelinase-related apoptosis
US5919687A (en) * 1996-12-24 1999-07-06 John Hopkins University Recombinant N-SMases and nucleic acids encoding same
US6426198B1 (en) 1997-07-03 2002-07-30 The United States Of America As Represented By The Secretary Of The Department Of Health And Human Services Genes for Niemann-Pick type C disease
US7258973B2 (en) 1998-08-31 2007-08-21 Mayo Foundation For Medical Education & Research Method for detecting a differentially expressed sequence
US6262334B1 (en) * 1998-08-31 2001-07-17 Bayer Corporation Human genes and expression products: II
US20040146879A1 (en) * 1998-08-31 2004-07-29 Bayer Healthcare Llc Novel human genes and gene expression products
US6534300B1 (en) * 1999-09-14 2003-03-18 Genzyme Glycobiology Research Institute, Inc. Methods for producing highly phosphorylated lysosomal hydrolases
US6770468B1 (en) 1999-09-14 2004-08-03 Genzyme Glycobiology Research Institute, Inc. Phosphodiester-α-GlcNAcase of the lysosomal targeting pathway
US7850984B2 (en) 2000-02-15 2010-12-14 The General Hospital Corporation Protection of the female reproductive system from natural and artificial insults
US20010036454A1 (en) * 2000-02-17 2001-11-01 Chester Li Genetic modification of the lung as a portal for gene delivery
GB0005326D0 (en) * 2000-03-06 2000-04-26 Deutsches Krebsforsch Enzymes and uses relating thereto
US6800472B2 (en) * 2001-12-21 2004-10-05 Genzyme Glycobiology Research Institute, Inc. Expression of lysosomal hydrolase in cells expressing pro-N-acetylglucosamine-1-phosphodiester α-N-acetyl glucosimanidase
US20030124652A1 (en) * 2001-12-21 2003-07-03 Novazyme Pharmaceuticals, Inc. Methods of producing high mannose glycoproteins in complex carbohydrate deficient cells
US6905856B2 (en) 2001-12-21 2005-06-14 Genzyme Glycobiology Research Institute, Inc. Soluble GlcNAc phosphotransferase
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WO2005016250A2 (en) * 2003-08-08 2005-02-24 Genzyme Corporation Cell therapy for neurometabolic disorders
WO2005051331A2 (en) * 2003-11-25 2005-06-09 Mount Sinai School Of Medicine Of New York University Chaperone-based therapy for niemann-pick disease
WO2006007560A2 (en) 2004-07-01 2006-01-19 University Of Pennsylvania Targeted protein replacement for the treatment of lysosomal storage disorders
CA2593110A1 (en) * 2005-01-04 2006-07-13 Stemcells California, Inc. Methods for the treatment of lysosomal storage disorders
JP5766389B2 (ja) 2005-05-02 2015-08-19 ジェンザイム・コーポレーション 脊髄疾患の遺伝子療法
WO2006119458A1 (en) 2005-05-02 2006-11-09 Genzyme Corporation Gene therapy for neurometabolic disorders
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KR20230164773A (ko) 2009-08-28 2023-12-04 이칸 스쿨 오브 메디슨 엣 마운트 시나이 산성 스핑고미엘리나제 결핍을 치료하기 위한 투여량 단계적 증가 효소 대체 요법
US8679478B2 (en) 2010-10-04 2014-03-25 Duke University Methods of lysosomal storage disease therapy
HUE051021T2 (hu) 2011-09-07 2021-01-28 Sinai School Medicine Ceramidáz és sejtek differenciálódása
EP2854910B1 (en) 2012-06-01 2020-04-15 Icahn School of Medicine at Mount Sinai Ceramide levels in the treatment and prevention of infections
US9937246B2 (en) 2013-03-14 2018-04-10 Icahn School Of Medicine At Mount Sinai Therapeutic acid ceramidase compositions and methods of making and using them
MY185990A (en) 2013-06-07 2021-06-14 Genzyme Corp Marker for acid sphingomyelinase disorders and uses thereof
EP3280451B8 (en) 2015-04-08 2019-09-25 The United States of America, as represented by the Secretary, Department of Health and Human Services Viral gene therapy as treatment for cholesterol storage disease or disorder
WO2017049157A1 (en) 2015-09-18 2017-03-23 Duke University Methods and compositions for the treatment of steatosis-associated disorders
WO2018237066A1 (en) 2017-06-20 2018-12-27 The United States Of America, As Represented By The Secretary, Department Of Health And Human Services CODON OPTIMIZED HUMAN NPC1 GENES FOR THE TREATMENT OF C1-TYPE NIEMANN-PICK DISEASE AND ASSOCIATED STATES
MX2020002106A (es) 2017-08-24 2020-07-14 Sanofi Sa Tratamiento de afecciones oseas anormales en pacientes con deficiencia de esfingomielinasa acida.
UY38238A (es) 2018-05-25 2019-12-31 Genzyme Corp Composiciones farmacéuticas para el tratamiento de la deficiencia de esfingomielinasa ácida
AU2020367532A1 (en) 2019-10-17 2022-05-12 Ginkgo Bioworks, Inc. Adeno-associated viral vectors for treatment of Niemann-Pick disease type C
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US5773278A (en) * 1991-05-03 1998-06-30 Mount Sinai Medical Center Acid sphingomyelinase gene

Also Published As

Publication number Publication date
DE69231701T2 (de) 2001-09-20
US5773278A (en) 1998-06-30
US20030153739A1 (en) 2003-08-14
EP0520843A3 (en) 1993-03-31
IL101727A0 (en) 1992-12-30
EP0520843B1 (en) 2001-02-28
US6541218B1 (en) 2003-04-01
EP0520843A2 (en) 1992-12-30
US5686240A (en) 1997-11-11
DE69231701D1 (de) 2001-04-05

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