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WO1998031817A3 - Sialidase lysosomiale humaine et utilisations therapeutiques de celle-ci - Google Patents

Sialidase lysosomiale humaine et utilisations therapeutiques de celle-ci Download PDF

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Publication number
WO1998031817A3
WO1998031817A3 PCT/CA1998/000026 CA9800026W WO9831817A3 WO 1998031817 A3 WO1998031817 A3 WO 1998031817A3 CA 9800026 W CA9800026 W CA 9800026W WO 9831817 A3 WO9831817 A3 WO 9831817A3
Authority
WO
WIPO (PCT)
Prior art keywords
dna
human lysosomal
sialidosis
patients
lysosomal sialidase
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/CA1998/000026
Other languages
English (en)
Other versions
WO1998031817A2 (fr
Inventor
Michel Potier
Alexey V Pshezhetsky
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.)
Centre Hospitalier Universitaire Saint Justine
Original Assignee
Centre Hospitalier Universitaire Saint Justine
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 Centre Hospitalier Universitaire Saint Justine filed Critical Centre Hospitalier Universitaire Saint Justine
Priority to AU55468/98A priority Critical patent/AU5546898A/en
Publication of WO1998031817A2 publication Critical patent/WO1998031817A2/fr
Publication of WO1998031817A3 publication Critical patent/WO1998031817A3/fr
Anticipated expiration legal-status Critical
Ceased legal-status Critical Current

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Classifications

    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Y—ENZYMES
    • C12Y302/00—Hydrolases acting on glycosyl compounds, i.e. glycosylases (3.2)
    • C12Y302/01—Glycosidases, i.e. enzymes hydrolysing O- and S-glycosyl compounds (3.2.1)
    • C12Y302/01018—Exo-alpha-sialidase (3.2.1.18), i.e. trans-sialidase
    • 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)
    • C12N9/24—Hydrolases (3) acting on glycosyl compounds (3.2)
    • C12N9/2402—Hydrolases (3) acting on glycosyl compounds (3.2) hydrolysing O- and S- glycosyl compounds (3.2.1)
    • 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
    • C07—ORGANIC CHEMISTRY
    • C07K—PEPTIDES
    • C07K2319/00—Fusion polypeptide

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Investigating Or Analysing Biological Materials (AREA)

Abstract

La présente invention concerne l'identification d'un ADNc complet codant pour la sialidase lysosomiale humaine, le clonage, le séquençage et l'expression de cet ADNc, l'identification de mutations trouvées dans des patients présentant une sialidose, ainsi que la cartographie chromosomique du gène de la sialidase. On décrit notamment une sialidase lysosomiale humaine, codée par la séquence d'ADN développée dans la figure (1) (SEQ ID NO:1) et possédant la séquence d'acides aminés illustrée dans cette figure (1) (SEQ ID NO:2). L'invention concerne également un procédé d'analyse de mutations chez des patients atteints de sialidose ou de maladies similaires, ce procédé consistant: a) à isoler l'ADN à partir d'un échantillon biologique prélevé sur de tels patients, et b) à comparer l'ADN de l'étape a) avec l'ADN de la présente invention, afin de déterminer la présence d'une quelconque mutation, laquelle présence est révélatrice d'une sialidose ou de maladies similaires.
PCT/CA1998/000026 1997-01-14 1998-01-13 Sialidase lysosomiale humaine et utilisations therapeutiques de celle-ci Ceased WO1998031817A2 (fr)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU55468/98A AU5546898A (en) 1997-01-14 1998-01-13 Human lysosomal sialidase and therapeutic uses thereof

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US3509297P 1997-01-14 1997-01-14
US60/035,092 1997-01-14

Publications (2)

Publication Number Publication Date
WO1998031817A2 WO1998031817A2 (fr) 1998-07-23
WO1998031817A3 true WO1998031817A3 (fr) 1998-09-11

Family

ID=21880596

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/CA1998/000026 Ceased WO1998031817A2 (fr) 1997-01-14 1998-01-13 Sialidase lysosomiale humaine et utilisations therapeutiques de celle-ci

Country Status (2)

Country Link
AU (1) AU5546898A (fr)
WO (1) WO1998031817A2 (fr)

Families Citing this family (6)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2470348A1 (fr) * 2001-12-14 2003-06-26 Anthony Kavanagh Gene rapporteur
US8512710B2 (en) 2002-11-22 2013-08-20 Ansun Biopharma, Inc. Class of therapeutic protein based molecules
US7807174B2 (en) 2002-11-22 2010-10-05 Nexbio, Inc. Class of therapeutic protein based molecules
KR20050085130A (ko) 2002-11-22 2005-08-29 유 망 광범위 스펙트럼의 항-바이러스 치료제 및 예방제
ES2653918T3 (es) 2011-08-31 2018-02-09 St. Jude Children's Research Hospital Métodos y composiciones para detectar el nivel de actividad de exocitosis lisosómica y métodos de uso
EP4000637A4 (fr) * 2019-07-05 2023-07-26 Tokushima University Neuraminidase modifiée

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0349666A1 (fr) * 1988-07-07 1990-01-10 Milupa Aktiengesellschaft Procédé pour la production enzymatique de denrées alimentaires bifidogéniques diététiques pour les nourrissons
WO1995032712A1 (fr) * 1994-05-28 1995-12-07 Biota Scientific Management Pty Ltd Composes et compositions destines a etre administres par insufflation ou inhalation orale

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0349666A1 (fr) * 1988-07-07 1990-01-10 Milupa Aktiengesellschaft Procédé pour la production enzymatique de denrées alimentaires bifidogéniques diététiques pour les nourrissons
WO1995032712A1 (fr) * 1994-05-28 1995-12-07 Biota Scientific Management Pty Ltd Composes et compositions destines a etre administres par insufflation ou inhalation orale

Non-Patent Citations (7)

* Cited by examiner, † Cited by third party
Title
BONTEN E ET AL: "Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis (AC No. AF040958)", EMBL DATABASE, 17 January 1998 (1998-01-17), HEIDELBERG, GERMANY, XP002069466 *
BONTEN E ET AL: "Characterization of human lysosomal neuraminidase defines the molecular basis of the metabolic storage disorder sialidosis", GENES AND DEVELOPMENT, vol. 10, no. 24, 15 December 1996 (1996-12-15), pages 3156 - 3169, XP002069199 *
MILNER C M ET AL: "Identification of a sialidase encoded in the human major histocompatibility complex", JOURNAL OF BIOLOGICAL CHEMISTRY, vol. 272, no. 7, 14 February 1997 (1997-02-14), pages 4549 - 4558, XP002069201 *
POTIER M ET AL: "Human neuraminidase is a 60 kDa-processing product of prosaposin", BIOCHEM. BIOPHYS. RES. COMM., vol. 173, no. 1, 30 November 1990 (1990-11-30), pages 449 - 456, XP002069198 *
PSHEZHETSKY A V ET AL: "Cloning, expression and chromosomal mapping of human lysosomal sialidase and characterization of mutations in sialidosis", NATURE GENETICS, vol. 15, no. 3, March 1997 (1997-03-01), pages 316 - 320, XP002069200 *
PSHEZHETSKY A V: "Sialidosis: cloning, expression and chromosomal mapping of human sialidase (neuraminidase)", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 59, no. 4, October 1996 (1996-10-01), pages A279, XP002069197 *
RICHARD C ET AL: "Characterization of lysosomal sialidase mutations in sialidosis patients", AMERICAN JOURNAL OF HUMAN GENETICS, vol. 59, no. 4, October 1996 (1996-10-01), pages A282, XP002069196 *

Also Published As

Publication number Publication date
WO1998031817A2 (fr) 1998-07-23
AU5546898A (en) 1998-08-07

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