PMID- 10473542
OWN - NLM
STAT- MEDLINE
DCOM- 19991007
LR  - 20210209
IS  - 0021-9258 (Print)
IS  - 0021-9258 (Linking)
VI  - 274
IP  - 37
DP  - 1999 Sep 10
TI  - A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased 
      import of GDP-fucose into the golgi.
PG  - 25986-9
AB  - The fucosylation of glycoproteins was found to be deficient in a patient with a 
      clinical phenotype resembling that of leukocyte adhesion deficiency type II (LAD 
      II). While in LAD II hypofucosylation of glycoconjugates is secondary to an 
      impaired synthesis of GDP-fucose due to a deficiency of the GDP-D-mannose-4, 
      6-dehydratase, synthesis of GDP-fucose was normal in our patient (Korner, C., 
      Linnebank, M., Koch, H., Harms, E., von Figura, K., and Marquardt, T. (1999) J. 
      Leukoc. Biol., in press). Import of GDP-fucose into Golgi-enriched vesicles was 
      composed of a saturable, high affinity and a nonsaturable component. In our 
      patient the saturable high affinity import of GDP-fucose was deficient, while 
      import of UDP-galactose and the activity of GDPase, which generates the 
      nucleoside phosphate required for antiport of GDP-fucose, were normal. Addition 
      of L-fucose to the medium of fibroblasts restored the fucosylation of 
      glycoproteins. We propose that this new form of carbohydrate-deficient 
      glycoprotein syndrome is caused by impaired import of GDP-fucose into the Golgi.
FAU - Lubke, T
AU  - Lubke T
AD  - Georg-August-Universitat Gottingen, Abteilung Biochemie II, Heinrich-Duker-Weg 
      12, D-37073 Gottingen, Germany.
FAU - Marquardt, T
AU  - Marquardt T
FAU - von Figura, K
AU  - von Figura K
FAU - Korner, C
AU  - Korner C
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Biol Chem
JT  - The Journal of biological chemistry
JID - 2985121R
RN  - 15839-70-0 (Guanosine Diphosphate Fucose)
SB  - IM
MH  - Biological Transport
MH  - Cells, Cultured
MH  - Congenital Disorders of Glycosylation/*metabolism
MH  - Golgi Apparatus/*metabolism
MH  - Guanosine Diphosphate Fucose/*metabolism
MH  - Humans
EDAT- 1999/09/03 00:00
MHDA- 1999/09/03 00:01
CRDT- 1999/09/03 00:00
PHST- 1999/09/03 00:00 [pubmed]
PHST- 1999/09/03 00:01 [medline]
PHST- 1999/09/03 00:00 [entrez]
AID - S0021-9258(19)55172-9 [pii]
AID - 10.1074/jbc.274.37.25986 [doi]
PST - ppublish
SO  - J Biol Chem. 1999 Sep 10;274(37):25986-9. doi: 10.1074/jbc.274.37.25986.