Leukocyte adhesion deficiency II patients with a dual defect of the GDP-fucose transporter

Blood

Volumn 107, Issue 10, 2006, Pages 3959-3966

  Helmus, Yvonne ^c   Denecke, Jonas ^c   Yakubenia, Sviatlana ^c   Robinson, Peter ^c   Lühn, Kerstin ^c   Watson, Diana L ^c   McGrogan, Paraic J ^c   Vestweber, Dietmar ^c   Marquardt, Thorsten ^b   Wild, Martin K ^a  

^a UNIVERSITY OF MÜNSTER   (Germany)

^b UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

GUANOSINE DIPHOSPHATE FUCOSE;

ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2C; CONTROLLED STUDY; DEMOGRAPHY; ENDOPLASMIC RETICULUM; FIBROBLAST; FUCOSYLATION; GOLGI COMPLEX; HUMAN; NEUTROPHIL; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; STOP CODON;

EID: 33646580079     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2005-08-3334     Document Type: Article

References (34)

1. Butcher EC, Picker LJ. Lymphocyte homing and homeostasis. Science. 1996;272:60-66.
2. Springer TA. Traffic signals for lymphocyte recirculation and leukocyte emigration: the multistep paradigm. Cell. 1994;76:301-314.
3. Lasky LA. Selectin-carbohydrate interactions and the initiation of the inflammatory response. Annu Rev Biochem. 1995;64:113-139.
4. Vestweber D, Blanks JE. Mechanisms that regulate the function of the selectins and their ligands. Physiol Rev. 1999;79:181-213.
5. Etzioni A, Frydman M, Pollack S, et al. Recurrent severe infections caused by a novel leukocyte adhesion deficiency. N Engl J Med. 1992;327:1789-1792.
6. Frydman M, Etzioni A, Eidlitz-Markus T, et al. Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype. Am J Med Genet. 1992;44:297-302.
7. Marquardt T, Brune T, Lühn K, et al. Leukocyte adhesion deficiency II syndrome, a generalized defect in fucose metabolism. J Pediatr. 1999;134:681-688.
8. Wild MK, Luhn K, Marquardt T, Vestweber D. Leukocyte adhesion deficiency II: therapy and genetic defect. Cells Tissues Organs. 2002;172:161-173.
9. Lühn K, Wild MK, Eckhardt M, Gerardy-Schahn R, Vestweber D. The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter. Nat Genet. 2001;28:69-72.
10. Lübke T, Marquardt T, Etzioni A, Hartmann E, von Figura K, Korner C. Complementation cloning identifies CDG-IIc, a new type of congenital disorder of glycosylation, as a GDP-fucose transporter deficiency. Nat Genet. 2001;28:73-76.
11. Puglielli L, Hirschberg CB. Reconstitution, identification, and purification of the rat liver Golgi membrane GDP-fucose transporter. J Biol Chem. 1999;274:35596-35600.
12. Ginsburg V. Formation of guanosine diphosphate L-fucose from guanosine diphosphate D-mannose. J Biol Chem. 1960;235:2196-2201.
13. Yurchenco PD, Atkinson PH. Equilibration of fucosyl glycoprotein pools in HeLa cells. Biochemistry. 1977;16:944-953.
14. Etzioni A, Sturla L, Antonellis A, et al. Leukocyte adhesion deficiency (LAD) type II/carbohydrate deficient glycoprotein (CDG) IIc founder effect and genotype/phenotype correlation. Am J Med Genet. 2002;110:131-135.
15. Hidalgo A, Ma S, Peired AJ, Weiss LA, Cunningham-Rundles C, Frenette PS. Insights into leukocyte adhesion deficiency type 2 from a novel mutation in the GDP-fucose transporter gene. Blood. 2003;101:1705-1712.
16. Marquardt T, Lühn K, Srikrishna G, Freeze HH, Harms E, Vestweber D. Correction of leukocyte adhesion deficiency type II with oral fucose. Blood. 1999;94:3976-3985.
17. Lühn K, Marquardt T, Harms E, Vestweber D. Discontinuation of fucose therapy in LADII causes rapid loss of selectin ligands and rise of leukocyte counts. Blood. 2001;97:330-332.
18. Etzioni A, Tonetti M. Fucose supplementation in leukocyte adhesion deficiency type II. Blood. 2000;95:3641-3643.
19. Sturla L, Puglielli L, Tonetti M, et al. Impairment of the Golgi GDP-L-fucose transport and unresponsiveness to fucose replacement therapy in LAD II patients. Pediatr Res. 2001;49:537-542.
20. Denecke J, Kranz C, Kemming D, Koch HG, Marquardt T. An activated 5′ cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id). Hum Mutat. 2004;23:477-486.
21. Hahne M, Jäger U, Isenmann S, Hallmann R, Vestweber D. Five tumor necrosis factor-inducible cell adhesion mechanisms on the surface of mouse endothelioma cells mediate the binding of leukocytes. J Cell Biol. 1993;121:655-664.
22. Gotsch U, Borges E, Bosse R, et al. VE-cadherin antibody accelerates neutrophil recruitment in vivo. J Cell Sci. 1997;110:583-588.
23. Ebnet K, Schulz CU, Meyer zu Brickwedde MK, Pendl GG, Vestweber D. Junctional adhesion molecule interacts with the PDZ domain-containing proteins AF-6 and ZO-1. J Biol Chem. 2000;275:27979-27988.
24. Martinez-Duncker I, Dupre T, Piller V, et al. Genetic complementation reveals a novel human congenital disorder of glycosylation of type II, due to inactivation of the Golgi CMP-sialic acid transporter. Blood. 2005;105:2671-2676.
25. Ishida N, Yoshioka S, Iida M, et al. Indispensability of transmembrane domains of Golgi UDP-galactose transporter as revealed by analysis of genetic defects in UDP-galactose transporter-deficient murine had-1 mutant cell lines and construction of deletion mutants. J Biochem. 1999;126:1107-1117.
26. Aoki K, Sun-Wada GH, Segawa H, Yoshioka S, Ishida N, Kawakita M. Expression and activity of chimeric molecules between human UDP-galactose transporter and CMP-sialic acid transporter. J Biochem. 1999;126:940-950.
27. Aoki K, Ishida N, Kawakita M. Substrate recognition by UDP-galactose and CMP-sialic acid transporters: different sets of transmembrane helices are utilized for the specific recognition of UDP-galactose and CMP-sialic acid. J Biol Chem. 2001;276:21555-21561.
28. Abe M, Hashimoto H, Yoda K. Molecular characterization of Vig4/Vrg4 GDP-mannose transporter of the yeast Saccharomyces cerevisiae. FEBS Lett. 1999;458:309-312.
29. Gao XD, Dean N. Distinct protein domains of the yeast Golgi GDP-mannose transporter mediate oligomer assembly and export from the endoplasmic reticulum. J Biol Chem. 2000;275:17718-17727.
30. Lübke T, Marquardt T, von Figura K, Korner C. A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the Golgi. J Biol Chem. 1999;274:25986-25989.
31. Luo Y, Haltiwanger RS. O-fucosylation of notch occurs in the endoplasmic reticulum. J Biol Chem. 2005;280:11289-11294.
32. Sturla L, Rampal R, Haltiwanger RS, Fruscione F, Etzioni A, Tonetti M. Differential terminal fucosylation of N-linked glycans versus protein O-fucosylation in leukocyte adhesion deficiency type II (CDG IIc). J Biol Chem. 2003;278:26727-26733.
33. Chen W, Tang J, Stanley P. Suppressors of alpha(1,3)fucosylation identified by expression cloning in the LEC11B gain-of-function CHO mutant. Glycobiology. 2005;15:259-269.
34. Ashikov A, Routier F, Fuhlrott J, et al. The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine. J Biol Chem. 2005;280:27230-27235.