Abnormal Metabolism of Mannose in Families with Carbohydrate-Deficient Glycoprotein Syndrome Type 1

Jaeken, 1991, The carbohydrate-deficient glycoprotein syndrome: A new inherited multisystemic disease with severe nervous system involvement, Acta Pediatr Scand Suppl, 375, 1 Petersen, 1993, Early manifestations of the carbohydrate-deficient glycoprotein syndrome, J Pediatr, 122, 66, 10.1016/S0022-3476(05)83488-2 Stibler, 1990, Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome, Arch Dis Child, 65, 107, 10.1136/adc.65.1.107 Hagberg, 1993, Carbohydrate-deficient glycoprotein syndromes: Peculiar group of new disorders, Pediatr Neurol, 9, 255, 10.1016/0887-8994(93)90060-P Wada, 1992, Structure of serum transferrin in carbohydrate-deficient glycoprotein syndrome, Biochem Biophys Res Commun, 189, 832, 10.1016/0006-291X(92)92278-6 Yamashita, 1993, Electrospray ionization-mass spectrometric analysis of serum transferrin isoforms in patients with carbohydrate-deficient glycoprotein syndrome, J Biochem, 114, 766, 10.1093/oxfordjournals.jbchem.a124253 Yamashita, 1993, Sugar chains of serum transferrin from patients with carbohydrate-deficient glycoprotein syndrome, J Biol Chem, 268, 5783, 10.1016/S0021-9258(18)53387-1 Powell, 1994, Carbohydrate-deficient glycoprotein syndrome: Not an N-linked oligosaccharide processing defect, but an abnormality in lipid-linked oligosaccharide biosynthesis?, J Clin Invest, 94, 1901, 10.1172/JCI117540 Panneerselvam, 1996, Mannose corrects altered N-glycosylation in carbohydrate-deficient glycoprotein syndrome fibroblasts, J Clin Invest, 97, 1478, 10.1172/JCI118570 Van Schaftingen, 1995, Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome Type I, FEBS Lett, 377, 318, 10.1016/0014-5793(95)01357-1 Jaeken, 1996, Phosphomannomutase deficiency is the major cause of carbohydrate-deficient glycoprotein syndrome Type I, J Inher Metab Dis, 19, 6 Matthijs, 1997, Mutations in PMM2, a Phosphomannomutase Gene on Chromosome 16P13, in Carbohydrate-Deficient Glycoprotein Type I Syndrome, Nat Genet, 16, 88, 10.1038/ng0597-88 Matthijs, 1997, PMM (PMM1), the Human Homologue of SEC53 or Yeast Phosphomannomutase, is Localized on Chromosome 22Q13, Genomics, 40, 41, 10.1006/geno.1996.4536 Panneerselvam, 1996, Mannose enters mammalian cells using a specific transporter that is insensitive to glucose, J Biol Chem, 271, 9417, 10.1074/jbc.271.16.9417 Freeze, 1993, Chapter 17: Preparation and analysis of glycoconjugates Sa-Correia, 1987, 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, 3224, 10.1128/jb.169.7.3224-3231.1987 Etchison, 1997, Enzymatic assay of D-mannose in serum, Clin Chem, 43, 533, 10.1093/clinchem/43.3.533 Pitkanen, 1994, Determination of mannose and fructose in human plasma using deuterium labelling and gas chromatography/mass spectrometry, Biol Mass Spectrom, 23, 590, 10.1002/bms.1200230909 Herman, 1971, Mannose metabolism, Am J Clin Nutr, 24, 488, 10.1093/ajcn/24.4.488 Davis, 1975, Physiological effects of mannans, galactomannans, and glucomannans, 296 Schwartz, 1992, 359 Jolley, 1970, Carbohydrates in normal urine and blood serum as determined by high-resolution chromatography, Am J Clin Pathol, 53, 793 Aloia, 1973, Monosaccharides and polyols in diabetes mellitus and uremia, J Lab Clin Med, 82, 809 Kepes, 1988, The yeast SEC53 gene encodes phosphomannomutase, J Biol Chem, 263, 9155, 10.1016/S0021-9258(19)76520-X Clayton, 1993, Carbohydrate-deficient glycoprotein syndrome: normal glycosylation in the fetus, Lancet, 314, 956, 10.1016/0140-6736(93)91244-G Stibler, 1994, Failure to diagnose carbohydrate-deficient glycoprotein syndrome prenatally, Pediatr Neurol, 11, 71, 10.1016/0887-8994(94)90097-3 S, Manochiopinig, 1981, Mannose-6-phosphate Concentrations in Hepatocytes and Perfused Rat Livers, 26, 42 Payton, 1991, A novel Saccharomyces cerevisiae secretory mutant possesses a thermolabile phosphomannose isomerase, J Bacteriol, 173, 2006, 10.1128/jb.173.6.2006-2010.1991 Monson, 1981, Mannose in body fluids as an indicator of invasive candidiasis, J Clin Microbiol, 14, 557, 10.1128/JCM.14.5.557-562.1981 Ohkura, 1997, A partial deficiency of dehydrodolichol reduction is a cause of carbohydrate-deficient glycoprotein syndrome type I, J Biol Chem, 272, 6868, 10.1074/jbc.272.11.6868 Kornfeld, 1985, Assembly of asparagine-linked oligosaccharides, Annu Rev Biochem, 54, 631, 10.1146/annurev.bi.54.070185.003215 Spiro, 1991, Potential regulation of N-glycosylation precursor through oligosaccharide-lipid hydrolase action and glucosyltransferase-glucosidase shuttle, J Biol Chem, 266, 5311, 10.1016/S0021-9258(19)67789-6 Cacan, 1992, Different fates of the oligosaccharide moieties of lipid intermediates, Glycobiology, 2, 127, 10.1093/glycob/2.2.127 Villers, 1994, Release of oligomannoside-type glycans as a marker of the degradation of newly synthesized glycoproteins, Biochem J, 298, 135, 10.1042/bj2980135