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WO1998031817A3 - Human lysosomal sialidase and therapeutic uses thereof - Google Patents

Human lysosomal sialidase and therapeutic uses thereof 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
Application number
PCT/CA1998/000026
Other languages
French (fr)
Other versions
WO1998031817A2 (en
Inventor
Michel Potier
Alexey V Pshezhetsky
Original Assignee
Chu Sainte Justine
Michel Potier
Alexey V Pshezhetsky
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 Chu Sainte Justine, Michel Potier, Alexey V Pshezhetsky filed Critical Chu Sainte Justine
Priority to AU55468/98A priority Critical patent/AU5546898A/en
Publication of WO1998031817A2 publication Critical patent/WO1998031817A2/en
Publication of WO1998031817A3 publication Critical patent/WO1998031817A3/en

Links

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

The present invention relates to the identification of a complete cDNA coding for human lysosomal sialidase, its cloning, sequencing and expression, and to the identification of mutations found in sialidosis patients and chromosomal mapping of the sialidase gene. There is provided a human lysosomal sialidase encoded by the DNA sequence set forth in Fig. 1 (SEQ ID NO:1) and having the amino acid sequence depicted in Fig. 1 (SEQ ID NO:2). There is also provided a method of mutations analysis in patients affected with sialidosis or similar diseases, which comprises the steps of: a) isolating DNA from a biological sample of said patients; b) comparing the DNA of step a) with the DNA of the present invention to determine the presence of any mutation, whereby the presence of a mutation is indicative of sialidosis or similar diseases.
PCT/CA1998/000026 1997-01-14 1998-01-13 Human lysosomal sialidase and therapeutic uses thereof WO1998031817A2 (en)

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 (en) 1998-07-23
WO1998031817A3 true WO1998031817A3 (en) 1998-09-11

Family

ID=21880596

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/CA1998/000026 WO1998031817A2 (en) 1997-01-14 1998-01-13 Human lysosomal sialidase and therapeutic uses thereof

Country Status (2)

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

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2470348A1 (en) * 2001-12-14 2003-06-26 Anthony Kavanagh A reporter gene
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
US8084036B2 (en) 2002-11-22 2011-12-27 Nexbio, Inc. Broad spectrum anti-viral therapeutics and prophylaxis
SI2751279T1 (en) * 2011-08-31 2018-01-31 St. Jude Children's Research Hospital Methods and compositions to detect the level of lysosomal exocytosis activity and methods of use

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0349666A1 (en) * 1988-07-07 1990-01-10 Milupa Aktiengesellschaft Process for the enzymatic production of bifidogenic baby and dietetic food
WO1995032712A1 (en) * 1994-05-28 1995-12-07 Biota Scientific Management Pty Ltd Compounds and compositions for administration via oral inhalation or insufflation

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP0349666A1 (en) * 1988-07-07 1990-01-10 Milupa Aktiengesellschaft Process for the enzymatic production of bifidogenic baby and dietetic food
WO1995032712A1 (en) * 1994-05-28 1995-12-07 Biota Scientific Management Pty Ltd Compounds and compositions for administration via oral inhalation or insufflation

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
AU5546898A (en) 1998-08-07
WO1998031817A2 (en) 1998-07-23

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