JP5576010B2 - ラフォラ病遺伝子 - Google Patents

ラフォラ病遺伝子 Download PDF

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Publication number
JP5576010B2
JP5576010B2 JP2006522189A JP2006522189A JP5576010B2 JP 5576010 B2 JP5576010 B2 JP 5576010B2 JP 2006522189 A JP2006522189 A JP 2006522189A JP 2006522189 A JP2006522189 A JP 2006522189A JP 5576010 B2 JP5576010 B2 JP 5576010B2
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seq
sequence shown
epm2b
nucleotide
gene sequence
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JP2006522189A
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Japanese (ja)
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JP2007523624A5 (https=
JP2007523624A (ja
Inventor
ステファン ダブリュー． シェーラー
ベルゲ エイ． ミナシアン
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Hospital for Sick Children HSC
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Hospital for Sick Children HSC
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    • 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
    • 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
    • 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
    • C07K14/4702—Regulators; Modulating activity
    • 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
    • C12N9/93—Ligases (6)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
    • G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
    • 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
    • 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
    • C12Q2600/172—Haplotypes
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y603/00—Ligases forming carbon-nitrogen bonds (6.3)
    • C12Y603/02—Acid—amino-acid ligases (peptide synthases)(6.3.2)
    • C12Y603/02019—Ubiquitin-protein ligase (6.3.2.19), i.e. ubiquitin-conjugating enzyme

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  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Wood Science & Technology (AREA)
  • Medicinal Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Hematology (AREA)
  • Urology & Nephrology (AREA)
  • Cell Biology (AREA)
  • Food Science & Technology (AREA)
  • General Physics & Mathematics (AREA)
  • Neurosurgery (AREA)
  • Neurology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
JP2006522189A 2003-08-04 2004-07-30 ラフォラ病遺伝子 Expired - Fee Related JP5576010B2 (ja)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US49196803P 2003-08-04 2003-08-04
US60/491,968 2003-08-04
PCT/CA2004/001449 WO2005012526A1 (en) 2003-08-04 2004-07-30 Lafora's disease gene

Related Child Applications (1)

Application Number Title Priority Date Filing Date
JP2011261115A Division JP2012095651A (ja) 2003-08-04 2011-11-30 ラフォラ病遺伝子

Publications (3)

Publication Number Publication Date
JP2007523624A JP2007523624A (ja) 2007-08-23
JP2007523624A5 JP2007523624A5 (https=) 2008-03-06
JP5576010B2 true JP5576010B2 (ja) 2014-08-20

Family

ID=34115575

Family Applications (2)

Application Number Title Priority Date Filing Date
JP2006522189A Expired - Fee Related JP5576010B2 (ja) 2003-08-04 2004-07-30 ラフォラ病遺伝子
JP2011261115A Pending JP2012095651A (ja) 2003-08-04 2011-11-30 ラフォラ病遺伝子

Family Applications After (1)

Application Number Title Priority Date Filing Date
JP2011261115A Pending JP2012095651A (ja) 2003-08-04 2011-11-30 ラフォラ病遺伝子

Country Status (4)

Country Link
US (4) US7871768B2 (https=)
JP (2) JP5576010B2 (https=)
CA (1) CA2534382C (https=)
WO (1) WO2005012526A1 (https=)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6825328B1 (en) 1998-07-20 2004-11-30 Stephen W. Scherer Lafora's disease gene
WO2005012526A1 (en) 2003-08-04 2005-02-10 The Hospital For Sick Children Lafora's disease gene
EP2812342B1 (en) 2012-02-08 2017-11-15 Ionis Pharmaceuticals, Inc. Modulation of rna by repeat targeting
US10202591B2 (en) 2014-06-13 2019-02-12 Valerion Therapeutics, Llc Methods and compositions for treatment of glycogen storage diseases and glycogen metabolism disorders
EP3471781A4 (en) 2016-06-17 2020-05-06 Ionis Pharmaceuticals, Inc. MODULATION OF GYS1 EXPRESSION
WO2025076463A1 (en) * 2023-10-06 2025-04-10 The Board Of Regents Of The University Of Texas System Gene therapy for lafora disease

Family Cites Families (30)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4458066A (en) 1980-02-29 1984-07-03 University Patents, Inc. Process for preparing polynucleotides
US4401796A (en) 1981-04-30 1983-08-30 City Of Hope Research Institute Solid-phase synthesis of polynucleotides
US4373071A (en) 1981-04-30 1983-02-08 City Of Hope Research Institute Solid-phase synthesis of polynucleotides
GB8308235D0 (en) 1983-03-25 1983-05-05 Celltech Ltd Polypeptides
US4816567A (en) 1983-04-08 1989-03-28 Genentech, Inc. Recombinant immunoglobin preparations
US4598049A (en) 1983-08-31 1986-07-01 Systec Inc. General purpose gene synthesizer
JPS6147500A (ja) 1984-08-15 1986-03-07 Res Dev Corp Of Japan キメラモノクロ−ナル抗体及びその製造法
EP0173494A3 (en) 1984-08-27 1987-11-25 The Board Of Trustees Of The Leland Stanford Junior University Chimeric receptors by dna splicing and expression
GB8422238D0 (en) 1984-09-03 1984-10-10 Neuberger M S Chimeric proteins
US5034506A (en) 1985-03-15 1991-07-23 Anti-Gene Development Group Uncharged morpholino-based polymers having achiral intersubunit linkages
US4683202A (en) 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
GB8607679D0 (en) 1986-03-27 1986-04-30 Winter G P Recombinant dna product
US4863195A (en) 1987-10-02 1989-09-05 Capozzola Carl A Identification tag
AU622426B2 (en) 1987-12-11 1992-04-09 Abbott Laboratories Assay using template-dependent nucleic acid probe reorganization
US5130238A (en) 1988-06-24 1992-07-14 Cangene Corporation Enhanced nucleic acid amplification process
GB9021679D0 (en) 1990-10-05 1990-11-21 Gorman Scott David Antibody preparation
US5843456A (en) 1991-03-07 1998-12-01 Virogenetics Corporation Alvac poxvirus-rabies compositions and combination compositions and uses
US5888780A (en) 1992-12-07 1999-03-30 Third Wave Technologies, Inc. Rapid detection and identification of nucleic acid variants
US5605798A (en) 1993-01-07 1997-02-25 Sequenom, Inc. DNA diagnostic based on mass spectrometry
US6045996A (en) 1993-10-26 2000-04-04 Affymetrix, Inc. Hybridization assays on oligonucleotide arrays
EP0705842A2 (en) 1994-10-06 1996-04-10 Hoechst Aktiengesellschaft Regulated genes by stimulation of chondrocytes with 1L-1beta
WO2000005405A2 (en) 1998-07-20 2000-02-03 Scherer Stephen W Lafora's disease gene
US6825328B1 (en) 1998-07-20 2004-11-30 Stephen W. Scherer Lafora's disease gene
JP3638516B2 (ja) 2000-09-28 2005-04-13 株式会社日立製作所 核酸検出方法および核酸検出キット
US20030092019A1 (en) * 2001-01-09 2003-05-15 Millennium Pharmaceuticals, Inc. Methods and compositions for diagnosing and treating neuropsychiatric disorders such as schizophrenia
US7371580B2 (en) 2001-08-24 2008-05-13 Agilent Technologies, Inc. Use of unstructured nucleic acids in assaying nucleic acid molecules
US20030059823A1 (en) 2001-09-21 2003-03-27 Juki Corporation Hybridization apparatus and method for detecting nucleic acid in sample using the same
WO2004038003A2 (en) * 2002-10-25 2004-05-06 Five Prime Therapeutics, Inc. Human polypeptides encoded by polynucleotides and methods of their use
ATE364641T1 (de) 2003-04-03 2007-07-15 Basell Polyolefine Gmbh Herstellung von hochmolekularen polyolefinen in gegenwart einer organischen übergangsmetallverbindung in einem gasphasen- wirbelschichtreaktor
WO2005012526A1 (en) 2003-08-04 2005-02-10 The Hospital For Sick Children Lafora's disease gene

Also Published As

Publication number Publication date
CA2534382C (en) 2018-12-11
JP2012095651A (ja) 2012-05-24
US20140072970A1 (en) 2014-03-13
US8450060B2 (en) 2013-05-28
JP2007523624A (ja) 2007-08-23
US7871768B2 (en) 2011-01-18
US9222135B2 (en) 2015-12-29
US20120070826A1 (en) 2012-03-22
US20160177393A1 (en) 2016-06-23
US20070184442A1 (en) 2007-08-09
WO2005012526A1 (en) 2005-02-10
CA2534382A1 (en) 2005-02-10

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