WO2002097079A3 - Gene codant une nouvelle proteine de type moteur moleculaire et procede diagnostique pour une maladie liee a ce gene - Google Patents

Gene codant une nouvelle proteine de type moteur moleculaire et procede diagnostique pour une maladie liee a ce gene Download PDF

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Publication number
WO2002097079A3
WO2002097079A3 PCT/JP2002/005226 JP0205226W WO02097079A3 WO 2002097079 A3 WO2002097079 A3 WO 2002097079A3 JP 0205226 W JP0205226 W JP 0205226W WO 02097079 A3 WO02097079 A3 WO 02097079A3
Authority
WO
WIPO (PCT)
Prior art keywords
gene
polypeptide
kif1bb
diagnosis method
disease related
Prior art date
Application number
PCT/JP2002/005226
Other languages
English (en)
Other versions
WO2002097079A2 (fr
Inventor
Nobutaka Hirokawa
Yasuhide Hayashi
Original Assignee
Japan President Univ Tokyo
Nobutaka Hirokawa
Yasuhide Hayashi
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 Japan President Univ Tokyo, Nobutaka Hirokawa, Yasuhide Hayashi filed Critical Japan President Univ Tokyo
Priority to AU2002258249A priority Critical patent/AU2002258249A1/en
Priority to EP02728192A priority patent/EP1390483A2/fr
Priority to JP2003500246A priority patent/JP2004534534A/ja
Publication of WO2002097079A2 publication Critical patent/WO2002097079A2/fr
Publication of WO2002097079A3 publication Critical patent/WO2002097079A3/fr

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    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K16/00Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies
    • C07K16/40Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies against enzymes
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00Drugs for disorders of the muscular or neuromuscular system
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12NMICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N9/00Enzymes; Proenzymes; Compositions thereof; Processes for preparing, activating, inhibiting, separating or purifying enzymes
    • C12N9/14Hydrolases (3)
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/05Animals comprising random inserted nucleic acids (transgenic)
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61KPREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00Medicinal preparations containing peptides

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  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Animal Behavior & Ethology (AREA)
  • Biochemistry (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Neurology (AREA)
  • Zoology (AREA)
  • Biomedical Technology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Neurosurgery (AREA)
  • General Engineering & Computer Science (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Microbiology (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Preparation Of Compounds By Using Micro-Organisms (AREA)

Abstract

L'invention concerne la protéine KIF1Bβ, qui est un nouveau polypeptide à fonction de moteur dans le transport de précurseur de vésicule synaptique. L'invention concerne également un polynucléotide codant le polypeptide, un procédé relatif à l'élaboration du polypeptide, et son utilisation (par exemple, procédé diagnostique pour une maladie associée au gène kif1Bβ). Globalement, le polypeptide, un gène codant ce polypeptide, et un composé améliorant les symptômes d'une maladie associée au gène kif1Bβ sont utiles dans l'élaboration d'un agent thérapeutique ou préventif pour une telle maladie (par exemple, maladie de Charcot-Marie-Tooth, type 2A).
PCT/JP2002/005226 2001-05-29 2002-05-29 Gene codant une nouvelle proteine de type moteur moleculaire et procede diagnostique pour une maladie liee a ce gene WO2002097079A2 (fr)

Priority Applications (3)

Application Number Priority Date Filing Date Title
AU2002258249A AU2002258249A1 (en) 2001-05-29 2002-05-29 Gene encoding molecular motor protein and diagnosis method for the disease related to the gene
EP02728192A EP1390483A2 (fr) 2001-05-29 2002-05-29 Gene codant une nouvelle proteine de type moteur moleculaire et procede diagnostique pour une maladie liee a ce gene
JP2003500246A JP2004534534A (ja) 2001-05-29 2002-05-29 新しい分子モータータンパク質をコードする遺伝子、およびこの遺伝子に関連する疾患についての診断方法

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US29351301P 2001-05-29 2001-05-29
US60/293,513 2001-05-29

Publications (2)

Publication Number Publication Date
WO2002097079A2 WO2002097079A2 (fr) 2002-12-05
WO2002097079A3 true WO2002097079A3 (fr) 2003-09-18

Family

ID=23129386

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/JP2002/005226 WO2002097079A2 (fr) 2001-05-29 2002-05-29 Gene codant une nouvelle proteine de type moteur moleculaire et procede diagnostique pour une maladie liee a ce gene

Country Status (4)

Country Link
EP (1) EP1390483A2 (fr)
JP (1) JP2004534534A (fr)
AU (1) AU2002258249A1 (fr)
WO (1) WO2002097079A2 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2010014000A1 (fr) * 2008-08-01 2010-02-04 Erasmus University Medical Center Rotterdam Marqueurs de prédisposition pour la sclérose en plaques

Non-Patent Citations (10)

* Cited by examiner, † Cited by third party
Title
BLOOM GEORGE S: "The UNC-104/KIF1 family of kinesins.", CURRENT OPINION IN CELL BIOLOGY, vol. 13, no. 1, February 2001 (2001-02-01), pages 36 - 40, XP002239968, ISSN: 0955-0674 *
DATABASE EMBL [online] 2 May 2001 (2001-05-02), YANG H. ET AL: "Homo sapiens kinesin superfamily protein KIF1B mRNA, complete cds", XP002239971, retrieved from EBI Database accession no. AF257176 *
DATABASE EMBL [online] 5 March 1999 (1999-03-05), NAKAGAWA T. HIROKAWA N.: "mUS MUSCULUS Mrna FOR kif1b-BETA, COMPLETE CDS", XP002239969, retrieved from EBI Database accession no. AB023656 *
DATABASE SWALL [online] 1 November 1997 (1997-11-01), NANGAKU ET AL.: "Kinesin-like protein KIF1B.", XP002239970, retrieved from EBI Database accession no. Q60575 *
GONG T-W L ET AL: "NOVEL MOUSE KINESIN OF THE UNC-104/KIF1 SUBFAMILY ENCODED BY THE KIF1B GENE", GENE, ELSEVIER, AMSTERDAM, NL, vol. 239, 1999, pages 117 - 127, XP000925542, ISSN: 0378-1119 *
MUGLIA M ET AL: "Clinical and genetic study of a large Charcot-Marie-Tooth type 2A family from southern Italy.", NEUROLOGY, vol. 56, no. 1, 9 January 2001 (2001-01-09), pages 100 - 103, XP002239966, ISSN: 0028-3878 *
NANGAKU M ET AL: "KIF1B, A NOVEL MICROTUBULE PLUS END-DIRECTED MONOMERIC MOTOR PROTEIN FOR TRANSPORT OF MITOCHONDRIA", CELL, CELL PRESS, CAMBRIDGE, NA, US, vol. 79, 1994, pages 1209 - 1220, XP000915469, ISSN: 0092-8674 *
OTHMANE KAMEL BEN ET AL: "Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity.", GENOMICS, vol. 17, no. 2, 1993, pages 370 - 375, XP002239967, ISSN: 0888-7543 *
SAITO M ET AL: "Linkage mapping of the gene for Charcot-Marie-tooth disease type 2 to chromosome 1p (CMT2A) and the clinical features of CMT2A.", NEUROLOGY, vol. 49, no. 6, December 1997 (1997-12-01), pages 1630 - 1635, XP008016666, ISSN: 0028-3878 *
ZHAO CHUNJIE ET AL: "Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta.", CELL, vol. 105, no. 5, June 2001 (2001-06-01), pages 587 - 597, XP002239965, ISSN: 0092-8674 *

Also Published As

Publication number Publication date
EP1390483A2 (fr) 2004-02-25
AU2002258249A1 (en) 2002-12-09
WO2002097079A2 (fr) 2002-12-05
JP2004534534A (ja) 2004-11-18

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