EP 0824586 A4 20011205 - HUMAN URIDINE DIPHOSPHATE GALACTOSE-4-EPIMERASE
Title (en)
HUMAN URIDINE DIPHOSPHATE GALACTOSE-4-EPIMERASE
Title (de)
MENSCHLICHE URIDINDIPHOSPHAT GALAKTOSE-4-EPIMERASE
Title (fr)
URIDINE DIPHOSPHATE GALACTOSE-4-EPIMERASE HUMAINE
Publication
Application
Priority
- CA 2219770 A 19950511
- US 9505785 W 19950511
Abstract (en)
[origin: WO9635778A1] A human UDP galactose-4-epimerase polypeptide and DNA (RNA) encoding such polypeptide and a procedure for producing such polypeptide by recombinant techniques is disclosed. Also disclosed are methods for utilizing such polypeptide for the treatment of galactosemia. Also disclosed are diagnostic assays for the detection of mutations in the nucleic acid sequencing encoding human UDP galactose-4-epimerase protein and for detecting an altered level of human UDP galactose-4-epimerase protein in a sample derived from a host.
IPC 1-7
C12N 9/90; C12N 15/61; C12N 15/63; C12N 15/70; C12N 15/79; A61K 38/52; C12Q 1/533; C12Q 1/68; C07K 16/40
IPC 8 full level
C12N 9/90 (2006.01); C12N 15/61 (2006.01); C12Q 1/68 (2006.01); A61K 38/00 (2006.01)
CPC (source: EP)
C12N 9/90 (2013.01); C12Q 1/6883 (2013.01); A61K 38/00 (2013.01); C12N 2799/026 (2013.01); C12N 2799/028 (2013.01); C12Q 2600/158 (2013.01)
Citation (search report)
- [X] ZESCHNIGK M ET AL: "CDNA FROM RAT CELLS WITH RECONSTITUTIVE GALACTOSE-EPIMERASE ACTIVITY IN E. COLI", NUCLEIC ACIDS RESEARCH, OXFORD UNIVERSITY PRESS, SURREY, GB, vol. 18, no. 17, 1990, pages 5289, XP000999390, ISSN: 0305-1048
- [T] DAUDE N ET AL: "MOLECULAR CLONING, CHARACTERIZATION, AND MAPPING OF A FULL-LENGTH CDNA ENCODING HUMAN UDP-GALACTOSE 4'-EPIMERASE", BIOCHEMICAL AND MOLECULAR MEDICINE, ORLANDO, FL, US, vol. 56, no. 1, October 1995 (1995-10-01), pages 1 - 7, XP001017809, ISSN: 1077-3150
- [Y] ENDRES W ET AL: "CATARACT AND METABOLIC DISEASE", JOURNAL OF INHERITED METABOLIC DISEASE, vol. 13, no. 4, 1990, pages 509 - 516, XP001018227, ISSN: 0141-8955
- [Y] BEUTLER E: "GALACTOSEMIA: SCREENING AND DIAGNOSIS", CLINICAL BIOCHEMISTRY, PERGAMON PRESS, XX, vol. 24, no. 4, August 1991 (1991-08-01), pages 293 - 300, XP001006991, ISSN: 0009-9120
- [A] BAUER A J ET AL: "THE ISOLATION PURIFICATION AND PRELIMINARY CRYSTALLOGRAPHIC CHARACTERIZATION OF UDP-GALACTOSE-4-EPIMERASE FROM ESCHERICHIA-COLI", PROTEINS STRUCTURE FUNCTION AND GENETICS, vol. 9, no. 2, 1991, pages 135 - 142, XP001012852, ISSN: 0887-3585
- See references of WO 9635778A1
Designated contracting state (EPC)
AT BE CH DE DK ES FR GB GR IE IT LI LU MC NL PT SE
DOCDB simple family (publication)
WO 9635778 A1 19961114; CA 2219770 A1 19961114; EP 0824586 A1 19980225; EP 0824586 A4 20011205
DOCDB simple family (application)
US 9505785 W 19950511; CA 2219770 A 19950511; EP 95920385 A 19950511