WO1998049324A3 - Syndrome de type 1 consecutif a une deficience glucidique de la glycoproteine - Google Patents

Syndrome de type 1 consecutif a une deficience glucidique de la glycoproteine Download PDF

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Publication number
WO1998049324A3
WO1998049324A3 PCT/EP1998/002593 EP9802593W WO9849324A3 WO 1998049324 A3 WO1998049324 A3 WO 1998049324A3 EP 9802593 W EP9802593 W EP 9802593W WO 9849324 A3 WO9849324 A3 WO 9849324A3
Authority
WO
WIPO (PCT)
Prior art keywords
carbohydrate
syndrome type
deficient glycoprotein
glycoprotein syndrome
deficient
Prior art date
Application number
PCT/EP1998/002593
Other languages
English (en)
Other versions
WO1998049324A2 (fr
Inventor
Gert Matthijs
Original Assignee
Genzyme Ltd
Gert Matthijs
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
Priority claimed from GBGB9708851.2A external-priority patent/GB9708851D0/en
Priority claimed from GBGB9801719.7A external-priority patent/GB9801719D0/en
Application filed by Genzyme Ltd, Gert Matthijs filed Critical Genzyme Ltd
Priority to AU77612/98A priority Critical patent/AU7761298A/en
Priority to CA002289109A priority patent/CA2289109A1/fr
Priority to EP98925519A priority patent/EP0981632A2/fr
Publication of WO1998049324A2 publication Critical patent/WO1998049324A2/fr
Publication of WO1998049324A3 publication Critical patent/WO1998049324A3/fr

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Classifications

    • 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
    • C12N9/90—Isomerases (5.)
    • A—HUMAN NECESSITIES
    • A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; 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
    • A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61K—PREPARATIONS FOR MEDICAL, DENTAL OR TOILETRY PURPOSES
    • A61K38/00—Medicinal preparations containing peptides

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Wood Science & Technology (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Biomedical Technology (AREA)
  • Molecular Biology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Peptides Or Proteins (AREA)
  • Enzymes And Modification Thereof (AREA)

Abstract

L'invention concerne, entre autres, une molécule d'ADN purifiée et isolée, caractérisée en ce qu'elle comprend une séquence nucléotidique codant une protéine humaine phosphomannomutase 2 (PMM2) ou une partie de celle, comme on peut le voir sur les figures jointes.
PCT/EP1998/002593 1997-04-30 1998-04-30 Syndrome de type 1 consecutif a une deficience glucidique de la glycoproteine WO1998049324A2 (fr)

Priority Applications (3)

Application Number Priority Date Filing Date Title
AU77612/98A AU7761298A (en) 1997-04-30 1998-04-30 Carbohydrate-deficient glycoprotein syndrome type i
CA002289109A CA2289109A1 (fr) 1997-04-30 1998-04-30 Syndrome de type 1 consecutif a une deficience glucidique de la glycoproteine
EP98925519A EP0981632A2 (fr) 1997-04-30 1998-04-30 Syndrome de type 1 consecutif a une deficience glucidique de la glycoproteine

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
GBGB9708851.2A GB9708851D0 (en) 1997-04-30 1997-04-30 Carbohydrate-deficient glycoprotein syndrome type I
GB9708851.2 1997-04-30
GBGB9801719.7A GB9801719D0 (en) 1998-01-27 1998-01-27 Carbohydrate-deficient
GB9801719.7 1998-01-27

Publications (2)

Publication Number Publication Date
WO1998049324A2 WO1998049324A2 (fr) 1998-11-05
WO1998049324A3 true WO1998049324A3 (fr) 1999-02-11

Family

ID=26311468

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP1998/002593 WO1998049324A2 (fr) 1997-04-30 1998-04-30 Syndrome de type 1 consecutif a une deficience glucidique de la glycoproteine

Country Status (4)

Country Link
EP (1) EP0981632A2 (fr)
AU (1) AU7761298A (fr)
CA (1) CA2289109A1 (fr)
WO (1) WO1998049324A2 (fr)

Families Citing this family (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2239733C (fr) † 1995-12-18 2001-04-03 Myriad Genetics, Inc. Gene de predisposition au cancer du sein lie au chromosome 13

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1987005937A1 (fr) * 1986-03-24 1987-10-08 Getty Scientific Development Company Procede de synthese de saccharo-nucleotides par des techniques d'adn recombinant
WO1996027670A2 (fr) * 1995-03-03 1996-09-12 Forschungszentrum Jülich GmbH PROCEDE ENZYMATIQUE DE FABRICATION DE GDP-α-D-MANNOSE, GDP-MANNOSE PYROPHOSPHORYLASE ET PHOSPHOMANNOMUTASE APPROPRIEES ET LEUR OBTENTION, EPREUVE ENZYMATIQUE

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO1987005937A1 (fr) * 1986-03-24 1987-10-08 Getty Scientific Development Company Procede de synthese de saccharo-nucleotides par des techniques d'adn recombinant
WO1996027670A2 (fr) * 1995-03-03 1996-09-12 Forschungszentrum Jülich GmbH PROCEDE ENZYMATIQUE DE FABRICATION DE GDP-α-D-MANNOSE, GDP-MANNOSE PYROPHOSPHORYLASE ET PHOSPHOMANNOMUTASE APPROPRIEES ET LEUR OBTENTION, EPREUVE ENZYMATIQUE

Non-Patent Citations (4)

* Cited by examiner, † Cited by third party
Title
CHEMICAL ABSTRACTS, vol. 127, no. 13, 29 September 1997, Columbus, Ohio, US; abstract no. 172898, PIRARD, MICHEL ET AL: "Comparison of PMM1 with the phosphomannomutases expressed in rat liver and in human cells" XP002083383 *
FEBS LETT. (1997), 411(2,3), 251-254 CODEN: FEBLAL;ISSN: 0014-5793, 1997 *
MATTHIJS, GERT ET AL: "Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type 1 syndrome (Jaeken syndrome)", NAT. GENET. (1997), 16(1), 88-92 CODEN: NGENEC;ISSN: 1061-4036, 1997, XP002083382 *
SCHOLLEN, ELS ET AL: "Comparative analysis of the phosphomannomutase genes PMM1, PMM2 and PMM2.psi.: the sequence variation in the processed pseudogene is a reflection of the mutations found in the functional gene", HUM. MOL. GENET. (1998), 7(2), 157-164 CODEN: HMGEE5;ISSN: 0964-6906, 1998, XP002083381 *

Also Published As

Publication number Publication date
AU7761298A (en) 1998-11-24
WO1998049324A2 (fr) 1998-11-05
CA2289109A1 (fr) 1998-11-05
EP0981632A2 (fr) 2000-03-01

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