A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I

Journal of Biological Chemistry

Volumn 272, Issue 11, 1997, Pages 6868-6875

  Ohkura, Takashi ^a   Fukushima, Keiko ^a   Kurisaki, Akira ^b   Sagami, Hiroshi ^b   Ogura, Kyozo ^b   Ohno, Kousaku ^c   Hara Kuge, Sayuri ^a   Yamashita, Katsuko ^a  

^a SASAKI INSTITUTE   (Japan)

^b TOHOKU UNIVERSITY   (Japan)

^c TOTTORI UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOHYDRATE; DOLICHOL; GLYCOPROTEIN; GUANOSINE DIPHOSPHATE MANNOSE; MANNOSE; MANNOSE 6 PHOSPHATE; MEVALONIC ACID; OLIGOSACCHARIDE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOHYDRATE SYNTHESIS; CELL CYCLE; CEREBELLUM ATROPHY; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; FIBROBLAST; HEPATOMEGALY; HUMAN; HUMAN CELL; LIPIDOSIS; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SUBCUTANEOUS FAT;

CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME; CELLS, CULTURED; DOLICHOL; FIBROBLASTS; HUMANS; OLIGOSACCHARIDES;

EID: 0030957595     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.272.11.6868     Document Type: Article

References (41)

1. Hagberg, B. A., Blennow, G., Kristiansson, B., and Stibler, H. (1993) Pediatr. Neurol. 9, 255-262
2. Jaeken, J., Carchon, H., and Stibler, H. (1993) Glycobiology 3, 423-428
3. Yamashita, K., and Ohno, K. (1996) in Glycoproteins and Disease (Montreuil, J., Vliegenthart, J. F. G., and Schachter, H., eds) pp. 443-453, Elsevier Science Publishers B.V., Amsterdam
4. Jaeken, J., Vanderschueren-Lodeweyckx, M., Casaer, P., Snoeck, L., Corbeel, L., Egermont, E., and Eeckels, R. (1980) Pediatr. Res. 14, 179
5. Jaeken, J., van Eijk, H. G., van der Heul, C., Corbeel, L., Eeckels, R., and Eggermont, E. (1984) Clin. Chim. Acta 144, 245-247
6. Stabler, H., and Jaeken, J. (1990) Arch. Dis. Child. 65, 107-111
7. Stibler, H., Jaeken, J., and Kristiansson, B. (1991) Acta Paediatr. Scand. 375, (suppl.) 21-31
8. Yamashita, K., Ideo, H., Ohkura, T., Fukushima, K., Yuasa, I., Ohno, K., and Takeshita, K. (1993) J. Biol. Chem. 268, 5783-5789
9. Yamashita, K., Ohkura, T., Ideo, H., Ohno, K., and Kanai, M. (1993) J. Biochem. (Tokyo) 114, 766-769
10. Wada, Y., Nishikawa, A., Okamoto, N., Inui, K., Tsukamoto, H., Okada, S., and Taniguchi, N. (1992) Biochim. Biophys. Res. Commun. 189, 832-836
11. Panneerselvam, K., and Freeze, H. H. (1996) J. Clin. Invest. 97, 1478-1487
12. Van Schaftingen, E., and Jaeken, J. (1995) FEBS Lett. 377, 318-320
13. Powell, L. D., Panneerselvam, K., Vij, R., Diaz, S., Manzi, A., Buist, N., Freeze, H., and Varki, A. (1994) J. Clin. Invest. 94, 1901-1909
14. Krasnewich, D. M., Holt, G. D., Brantly, M., Skovby, F., Redwine, J., and Gahl, W. A. (1995) Glycobiology 5, 503-510
15. Ohno, K., Yuasa, I., Akaboshi, S., Itoh, M., Yoshida, K., Ehara, H., Ochiai, Y., and Takeshita, K. (1992) Brain Dev. 14, 30-35
16. Sagami, H., Kurisaki, A., and Ogura, K. (1993) J. Biol. Chem. 268, 10109-10113
17. Sagami, H., Igarashi, Y., Tateyama, S., Ogura, K., Roos, J., and Lennarz, W. J. (1996) J. Biol. Chem. 271, 9560-9566
18. Rohme, D. (1981) Proc. Natl. Acad. Sci. U. S. A. 78, 5009-5013
19. Todaro, G. J., Lazar, G. K., and Green, H. (1965) J. Cell Comp. Physiol. 66, 325-334
20. Schmitt, J. W., and Elbein, A. D. (1979) J. Biol. Chem. 254, 12291-12294
21. Yamashita, K., Mizuochi, T., and Kobata, A. (1982) Methods Enzymol. 83, 105-126
22. Barnard, E. A., Chou, A. C., and Wilson, J. E. (1975) Methods Enzymol. 42, 6-25
23. Guha, S. K., and Rose, Z. B. (1985) Arch. Biochem. Biophys. 243, 168-173
24. Preiss, J., and Greenberg, E. (1972) Methods Enzymol. 28, 281-284
25. Rush, J. S., and Waechter, C. J. (1995) Anal. Biochem. 224, 494-501
26. Glaser, L., Kornfeld, S., and Brown, D. H. (1959) Biochim. Biophys. Acta 33, 522-526
27. Keller, R. K. (1986) J. Biol. Chem. 261, 12053-12059
28. Rosenwald, A. G., Stanley, P., McLachlan, K. R., and Krag, S. S. (1993) Glycobiology 3, 481-488
29. Yamada, K., Yokohama, H., Abe, S., Katayama, K., and Sato, T. (1985) Anal. Biochem. 150, 26-31
30. Fujii, H., Koyama, T., and Ogura, K. (1982) Biochim. Biophys. Acta 712, 716-718
31. Snider, M. D. (1984) in Biology of Carbohydrates (Ginsburg, V., and Robbins, P. W., eds) Vol. 2, pp. 163-198, Wiley Interscience, New York
32. Small, D. M., and Matherson, N. K. (1979) Phytochemistry 18, 1147-1150
33. Stoll, J., and Krag, S. S. (1988) J. Biol. Chem. 263, 10766-10773
34. Kukuruzinska, M. A., Bergh, M. L. E., and Jackson, B. J. (1987) Annu. Rev. Biochem. 56, 915-944
35. Ripka, J., Shin, S.-I., and Stanley, P. (1986) Cell Biol. 6, 1268-1275
36. Stoll, J., Rosenwald, A. G., and Krag, S. S. (1988) J. Biol. Chem. 263, 10774-10782
37. Englund, P. T. (1993) Annu. Rev. Biochem. 62, 121-138
38. Gu, J., and Wada, Y. (1995) J. Biochem. (Tokyo) 117, 1276-127939
39. Yasugi, E., Nakasuji, M., Dohi, T., and Oshima, M. (1994) Biochem. Biophys. Res. Commun. 200, 816-820
40. Butterworth, P. H. W., and Hemming, F. W. (1968) Arch. Biochem. Biophys. 128, 503-508
41. Jaeken, J., Besley, G., Buist, N., Jewett, T., Lambert, M., Ogier de Baulny, H., Ohno, K., Pineda, M., Rhead, W., Sengers, R., Simeray, T., Skladal, D., Smeitink, J., Smit, P., Van der Knaap, M., Walter, H., Wevers, R., and Van Schaftingen, E. (1996) J. Inher. Metab. Dis. 19 (Suppl) p. 6 (33rd SSIEM Annual Symposium, Cardiff, 10th-13th September)