Abnormal metabolism of mannose in families with carbohydrate-deficient glycoprotein syndrome Type 1

Biochemical and Molecular Medicine

Volumn 61, Issue 2, 1997, Pages 161-167

  Panneerselvam, K ^a   Etchison, James R ^a   Skovby, Flemming ^b   Freeze, Hudson H ^a  

^a BURNHAM INSTITUTE   (United States)

^b University of Copenhagen   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE LINKED OLIGOSACCHARIDE; MANNOSE;

ARTICLE; CARBOHYDRATE ANALYSIS; CARBOHYDRATE METABOLISM; CELL CULTURE; CLINICAL ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; ENZYME ACTIVITY; FIBROBLAST; GLYCOSYLATION; HUMAN; HUMAN CELL;

EID: 0031214067     PISSN: 10773150     EISSN: None     Source Type: Journal    
DOI: 10.1006/bmme.1997.2599     Document Type: Article

References (34)

1. Jaeken J, Stibler H, Hagberg B. The carbohydrate-deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement. Acta Pediatr Scand Suppl. 375:1991;1-71.
2. Petersen M B, Brostrom K, Stibler H, Skovby F. Early manifestations of the carbohydrate-deficient glycoprotein syndrome. J Pediatr. 122:1993;66-70.
3. Stibler H, Jaeken J. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child. 65:1990;107-111.
4. Hagberg B A, Blennow G, Kristiansson B, Stibler H. Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders. Pediatr Neurol. 9:1993;255-262.
5. Wada Y, Nishikawa A, Okamoto N, Inui K, Tsukamoto H, Okada S, Taniguchi N. Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome. Biochem Biophys Res Commun. 189:1992;832-836.
6. Yamashita K, Ohkura T, Ideo H, Ohno K, Kanai M. Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome. J Biochem. 114:1993;766-769.
7. Yamashita K, Ideo H, Ohkura T, Fukushima K, Yuasa I, Ohno K, Takeshita K. Sugar chains of serum transferrin from patients with carbohydrate-deficient glycoprotein syndrome. J Biol Chem. 268:1993;5783-5789.
8. Powell L, Panneerselvam K, Vij R, Diaz S, Manzi A E, Buist N, Freeze H H, Varki A. Carbohydrate-deficient glycoprotein syndrome: Not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis? J Clin Invest. 94:1994;1901-1909.
9. Panneerselvam K, Freeze H H. Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts. J Clin Invest. 97:1996;1478-1487.
10. Van Schaftingen E, Jaeken J. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome Type I. FEBS Lett. 377:1995;318-320.
11. Jaeken J, Besley G, Buist N, Jewett T, Lambert M, Ogier de Baulny H, Ohna K, Pineda M, Sengers R, Simeray T, Skladal D, Smeitink J, Smit P, der Knaap M V, Walter H, Wevers R, Schaftingen E V. Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome Type I. J Inher Metab Dis. 19:1996;6.
12. Matthijs G, Schollen E, Pardon E, Veigadacunha M, Jaeken J, Cassiman J J, Vanschaftingen E. Mutations in PMM2, a Phosphomannomutase Gene on Chromosome 16P13, in Carbohydrate-Deficient Glycoprotein Type I Syndrome. Nat Genet. 16:1997;88-92.
13. Matthijs G, Schollen E, Pirard M, Budarf M L, Vanschaftingen E, Cassiman J J. PMM (PMM1), the Human Homologue of SEC53 or Yeast Phosphomannomutase, is Localized on Chromosome 22Q13. Genomics. 40:1997;41-47.
14. Panneerselvam K, Freeze H H. Mannose enters mammalian cells using a specific transporter that is insensitive to glucose. J Biol Chem. 271:1996;9417-9421.
15. Freeze H H. Chapter 17: Preparation and analysis of glycoconjugates. Current Protocols in Molecular Biology. 1993;Greene and Wiley-Interscience, New York. p. 17.13.1-17.13.16.
16. Sa-Correia I, Darzins A, Wang S, Berry A, Chakrabarti A M. Alginate biosynthetic enzymes in mucoid and nonmucoid Psudomonas aeruginosa: Overproduction of phosphomannose isomerase, phosphomannomutase, and GDP-Mannose pyrophosphorylase by overexpression of the phosphomannose isomerase (pmi) gene. J Bacteriol. 169:1987;3224-3231.
17. Etchison J R, Freeze H H. Enzymatic assay of D-mannose in serum. Clin Chem. 43:1997;533-538.
18. Pitkanen E, Kanninen T. Determination of mannose and fructose in human plasma using deuterium labelling and gas chromatography/mass spectrometry. Biol Mass Spectrom. 23:1994;590-595.
19. Herman R H. Mannose metabolism. Am J Clin Nutr. 24:1971;488-498.
20. Davis S E, Lewis B A. Physiological effects of mannans, galactomannans, and glucomannans. Jeanes A, Hodge J. Physiological Effects of Food Carbohydrates. 1975;296-311 American Chemical Society, Washington.
21. Schwartz N B. Delvin T M. Textbook of Biochemistry with Clinical Correlations; Carbohydrate Metabolism II: Special Pathways. 1992;359-386 Wiley, New York.
22. Jolley R L, Warren K S, Scott C D, Jainchill J L, Freeman M L. Carbohydrates in normal urine and blood serum as determined by high-resolution chromatography. Am J Clin Pathol. 53:1970;793-802.
23. Aloia J F. Monosaccharides and polyols in diabetes mellitus and uremia. J Lab Clin Med. 82:1973;809-817.
24. Kepes F, Schekman R. The yeast SEC53 gene encodes phosphomannomutase. J Biol Chem. 263:1988;9155-9161.
25. Clayton P, Winchester B, Di Tomaso E, Young E. Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus. Lancet. 314:1993;956.
26. Stibler H, Skovby F. Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally. Pediatr Neurol. 11:1994;71.
27. S, Manochiopinig, 1981, Mannose-6-phosphate Concentrations in Hepatocytes and Perfused Rat Livers, 26, 42.
28. Payton M S, Rheinnecker M, Klig L S, De Tiani M, Bowden E. A novel Saccharomyces cerevisiae secretory mutant possesses a thermolabile phosphomannose isomerase. J Bacteriol. 173:1991;2006-2010.
29. Monson T P, Wilkinson K P. Mannose in body fluids as an indicator of invasive candidiasis. J Clin Microbiol. 14:1981;557-562.
30. Ohkura T, Fukushima K, Kurisaki A, Sagami H, Ogura K, Ohno K, Hara-Kuge S, Yamashita K. A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I. J Biol Chem. 272:1997;6868.
31. Kornfeld R, Kornfeld S. Assembly of asparagine-linked oligosaccharides. Annu Rev Biochem. 54:1985;631-664.
32. Spiro M J, Spiro R G. Potential regulation of N-glycosylation precursor through oligosaccharide-lipid hydrolase action and glucosyltransferase-glucosidase shuttle. J Biol Chem. 266:1991;5311-5317.
33. Cacan R, Villers C, Melard M, Kaiden A, Krag S S, Verbert A. Different fates of the oligosaccharide moieties of lipid intermediates. Glycobiology. 2:1992;127-136.
34. Villers C, Cacan R, Mir A M, Labiau O, Verbert A. Release of oligomannoside-type glycans as a marker of the degradation of newly synthesized glycoproteins. Biochem J. 298:1994;135-142.