메뉴 건너뛰기




Volumn 105, Issue 2, 2012, Pages 212-220

IgG N-glycans as potential biomarkers for determining galactose tolerance in Classical Galactosaemia

Author keywords

Biomarkers; Diet liberalization; Galactosaemia; Galactosylation; IgG N glycans; NP HPLC

Indexed keywords

GALACTITOL; GALACTOSE; GLYCAN; IMMUNOGLOBULIN G;

EID: 84856109675     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.10.018     Document Type: Article
Times cited : (54)

References (46)
  • 2
    • 0025648036 scopus 로고
    • Long-term prognosis in galactosaemia: results of a survey of 350 cases
    • Waggoner D.D., Buist N.R., Donnell G.N. Long-term prognosis in galactosaemia: results of a survey of 350 cases. J. Inherit. Metab. Dis. 1990, 13(6):802-818.
    • (1990) J. Inherit. Metab. Dis. , vol.13 , Issue.6 , pp. 802-818
    • Waggoner, D.D.1    Buist, N.R.2    Donnell, G.N.3
  • 3
    • 0029084235 scopus 로고
    • Cognitive functioning, neurologic status and brain imaging in classical galactosemia
    • Kaufman F.R., McBride-Chang C., Manis F.R., et al. Cognitive functioning, neurologic status and brain imaging in classical galactosemia. Eur. J. Pediatr. 1995, 154:S2-S5. (7 Suppl. 2).
    • (1995) Eur. J. Pediatr. , vol.154 , Issue.7 SUPPL. 2
    • Kaufman, F.R.1    McBride-Chang, C.2    Manis, F.R.3
  • 4
    • 0029060921 scopus 로고
    • Galactosaemia: relationship of IQ to biochemical control and genotype
    • Cleary M.A., Heptinstall L.E., Wraith J.E., et al. Galactosaemia: relationship of IQ to biochemical control and genotype. J. Inherit. Metab. Dis. 1995, 18(2):151-152.
    • (1995) J. Inherit. Metab. Dis. , vol.18 , Issue.2 , pp. 151-152
    • Cleary, M.A.1    Heptinstall, L.E.2    Wraith, J.E.3
  • 5
    • 0033856120 scopus 로고    scopus 로고
    • The relationship of genotype to cognitive outcome in galactosaemia
    • Shield J.P., Wadsworth E.J., MacDonald A., et al. The relationship of genotype to cognitive outcome in galactosaemia. Arch. Dis. Child. 2000, 83(3):248-250.
    • (2000) Arch. Dis. Child. , vol.83 , Issue.3 , pp. 248-250
    • Shield, J.P.1    Wadsworth, E.J.2    MacDonald, A.3
  • 6
    • 0029112149 scopus 로고
    • Verbal dyspraxia in children with galactosemia
    • Nelson D. Verbal dyspraxia in children with galactosemia. Eur. J. Pediatr. 1995, 154:S6-S7. (7 Suppl. 2).
    • (1995) Eur. J. Pediatr. , vol.154 , Issue.7 SUPPL. 2
    • Nelson, D.1
  • 7
    • 0027270602 scopus 로고
    • Long-term outcome in 134 patients with galactosaemia
    • Schweitzer S., Shin Y., Jakobs C., et al. Long-term outcome in 134 patients with galactosaemia. Eur. J. Pediatr. 1993, 152(1):36-43.
    • (1993) Eur. J. Pediatr. , vol.152 , Issue.1 , pp. 36-43
    • Schweitzer, S.1    Shin, Y.2    Jakobs, C.3
  • 8
    • 0029093465 scopus 로고
    • Effects of galactosemia in utero
    • Holton J.B. Effects of galactosemia in utero. Eur. J. Pediatr. 1995, 154:S77-S81. (7 Suppl. 2).
    • (1995) Eur. J. Pediatr. , vol.154 , Issue.7 SUPPL. 2
    • Holton, J.B.1
  • 9
    • 33746867852 scopus 로고    scopus 로고
    • Classical galactosaemia revisited
    • Bosch A.M. Classical galactosaemia revisited. J. Inherit. Metab. Dis. 2006, 29(4):516-525.
    • (2006) J. Inherit. Metab. Dis. , vol.29 , Issue.4 , pp. 516-525
    • Bosch, A.M.1
  • 10
    • 0026719108 scopus 로고
    • Neurologic complications in galactosemia
    • Koch T.K., Schmidt K.A., Wagstaff J.E., et al. Neurologic complications in galactosemia. Pediatr. Neurol. 1992, 8(3):217-220.
    • (1992) Pediatr. Neurol. , vol.8 , Issue.3 , pp. 217-220
    • Koch, T.K.1    Schmidt, K.A.2    Wagstaff, J.E.3
  • 11
    • 84870011370 scopus 로고
    • Clouds over galactosemia
    • Komrower G.M. Clouds over galactosemia. Lancet 1983, 1(8317):190.
    • (1983) Lancet , vol.1 , Issue.8317 , pp. 190
    • Komrower, G.M.1
  • 12
    • 0043237948 scopus 로고    scopus 로고
    • A woman with untreated galactosaemia
    • Lee P.J., Lilburn M., Wendel U., et al. A woman with untreated galactosaemia. Lancet 2003, 362(9382):446.
    • (2003) Lancet , vol.362 , Issue.9382 , pp. 446
    • Lee, P.J.1    Lilburn, M.2    Wendel, U.3
  • 13
    • 33748964288 scopus 로고    scopus 로고
    • Untreated classical galactosemia patient with mild phenotype
    • Panis B., Bakker J.A., Sels J.P., et al. Untreated classical galactosemia patient with mild phenotype. Mol. Genet. Metab. 2006, 89(3):277-279.
    • (2006) Mol. Genet. Metab. , vol.89 , Issue.3 , pp. 277-279
    • Panis, B.1    Bakker, J.A.2    Sels, J.P.3
  • 14
    • 76749160257 scopus 로고    scopus 로고
    • Galactosemia, a single gene disorder with epigenetic consequences
    • Coman D.J., Murray D.W., Byrne J.C., et al. Galactosemia, a single gene disorder with epigenetic consequences. Pediatr. Res. 2010, 67:286-292.
    • (2010) Pediatr. Res. , vol.67 , pp. 286-292
    • Coman, D.J.1    Murray, D.W.2    Byrne, J.C.3
  • 15
    • 7944226945 scopus 로고    scopus 로고
    • High tolerance for oral galactose in classical galactosaemia: dietary implications
    • Bosch A.M., Bakker H.D., Wenniger-Prick L.J., et al. High tolerance for oral galactose in classical galactosaemia: dietary implications. Arch. Dis. Child. 2004, 89(11):1034-1036.
    • (2004) Arch. Dis. Child. , vol.89 , Issue.11 , pp. 1034-1036
    • Bosch, A.M.1    Bakker, H.D.2    Wenniger-Prick, L.J.3
  • 16
    • 0347320580 scopus 로고    scopus 로고
    • Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients
    • Schadewaldt P., Kamalanathan L., Hammen H.W., et al. Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol. Genet. Metab. 2004, 81(1):31-44.
    • (2004) Mol. Genet. Metab. , vol.81 , Issue.1 , pp. 31-44
    • Schadewaldt, P.1    Kamalanathan, L.2    Hammen, H.W.3
  • 17
    • 0028879596 scopus 로고
    • Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia
    • Berry G.T., Nissim I., Lin Z., et al. Endogenous synthesis of galactose in normal men and patients with hereditary galactosaemia. Lancet 1995, 346(8982):1073-1074.
    • (1995) Lancet , vol.346 , Issue.8982 , pp. 1073-1074
    • Berry, G.T.1    Nissim, I.2    Lin, Z.3
  • 18
    • 0347320579 scopus 로고    scopus 로고
    • The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency
    • Berry G.T., Moate P.J., Reynolds R.A., et al. The rate of de novo galactose synthesis in patients with galactose-1-phosphate uridyltransferase deficiency. Mol. Genet. Metab. 2004, 81(1):22-30.
    • (2004) Mol. Genet. Metab. , vol.81 , Issue.1 , pp. 22-30
    • Berry, G.T.1    Moate, P.J.2    Reynolds, R.A.3
  • 19
    • 32044436965 scopus 로고    scopus 로고
    • Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose
    • Segal S., Wehrli S., Yager C., et al. Pathways of galactose metabolism by galactosemics: evidence for galactose conversion to hepatic UDPglucose. Mol. Genet. Metab. 2006, 87(2):92-101.
    • (2006) Mol. Genet. Metab. , vol.87 , Issue.2 , pp. 92-101
    • Segal, S.1    Wehrli, S.2    Yager, C.3
  • 20
    • 0346689987 scopus 로고    scopus 로고
    • Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia
    • Schweitzer-Krantz S. Early diagnosis of inherited metabolic disorders towards improving outcome: the controversial issue of galactosaemia. Eur. J. Pediatr. 2003, 162(Suppl. 1):S50-S53.
    • (2003) Eur. J. Pediatr. , vol.162 , Issue.SUPPL. 1
    • Schweitzer-Krantz, S.1
  • 21
    • 64149095870 scopus 로고    scopus 로고
    • Outcomes of siblings with classical galactosemia
    • Hughes J., Ryan S., Lambert D., et al. Outcomes of siblings with classical galactosemia. J. Pediatr. 2009, 154(5):721-726.
    • (2009) J. Pediatr. , vol.154 , Issue.5 , pp. 721-726
    • Hughes, J.1    Ryan, S.2    Lambert, D.3
  • 22
    • 0032953619 scopus 로고    scopus 로고
    • Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations
    • Hutchesson A.C., Murdoch-Davis C., Green A., et al. Biochemical monitoring of treatment for galactosaemia: biological variability in metabolite concentrations. J. Inherit. Metab. Dis. 1999, 22(2):139-148.
    • (1999) J. Inherit. Metab. Dis. , vol.22 , Issue.2 , pp. 139-148
    • Hutchesson, A.C.1    Murdoch-Davis, C.2    Green, A.3
  • 23
    • 0032754473 scopus 로고    scopus 로고
    • On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database
    • Apweiler R., Hermjakob H., Sharon N. On the frequency of protein glycosylation, as deduced from analysis of the SWISS-PROT database. Biochim. Biophys. Acta 1999, 1473(1):4-8.
    • (1999) Biochim. Biophys. Acta , vol.1473 , Issue.1 , pp. 4-8
    • Apweiler, R.1    Hermjakob, H.2    Sharon, N.3
  • 24
    • 61349200094 scopus 로고    scopus 로고
    • IgG glycosylation analysis
    • Huhn C., Selman M.H., Ruhaak L.R., et al. IgG glycosylation analysis. Proteomics 2009, 9(4):882-913.
    • (2009) Proteomics , vol.9 , Issue.4 , pp. 882-913
    • Huhn, C.1    Selman, M.H.2    Ruhaak, L.R.3
  • 25
    • 0022460208 scopus 로고
    • A modified method for the estimation of galactose-1-phosphate
    • Dobbie J.A., Holton J.B. A modified method for the estimation of galactose-1-phosphate. Ann. Clin. Biochem. 1986, 23(Pt 3):325-328.
    • (1986) Ann. Clin. Biochem. , vol.23 , Issue.PART 3 , pp. 325-328
    • Dobbie, J.A.1    Holton, J.B.2
  • 26
    • 0015423947 scopus 로고
    • Gas chromatographic measurement of blood and urine glucose and other monosaccharides
    • Murphy D., Pennock C.A. Gas chromatographic measurement of blood and urine glucose and other monosaccharides. Clin. Chim. Acta 1972, 42(1):67-75.
    • (1972) Clin. Chim. Acta , vol.42 , Issue.1 , pp. 67-75
    • Murphy, D.1    Pennock, C.A.2
  • 27
    • 0032766493 scopus 로고    scopus 로고
    • Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers
    • Murphy M., McHugh B., Tighe O., et al. Genetic basis of transferase-deficient galactosaemia in Ireland and the population history of the Irish Travellers. Eur. J. Hum. Genet. 1999, 7(5):549-554.
    • (1999) Eur. J. Hum. Genet. , vol.7 , Issue.5 , pp. 549-554
    • Murphy, M.1    McHugh, B.2    Tighe, O.3
  • 28
    • 41449087577 scopus 로고    scopus 로고
    • HPLC-based analysis of serum N-glycans on a 96-well plate platform with dedicated database software
    • Royle L., Campbell M.P., Radcliffe C.M., et al. HPLC-based analysis of serum N-glycans on a 96-well plate platform with dedicated database software. Anal. Biochem. 2008, 376(1):1-12.
    • (2008) Anal. Biochem. , vol.376 , Issue.1 , pp. 1-12
    • Royle, L.1    Campbell, M.P.2    Radcliffe, C.M.3
  • 29
    • 0029164230 scopus 로고
    • Nonselective and efficient fluorescent labeling of glycans using 2-amino benzamide and anthranilic acid
    • Bigge J.C., Patel T.P., Bruce J.A., et al. Nonselective and efficient fluorescent labeling of glycans using 2-amino benzamide and anthranilic acid. Anal. Biochem. 1995, 230(2):229-238.
    • (1995) Anal. Biochem. , vol.230 , Issue.2 , pp. 229-238
    • Bigge, J.C.1    Patel, T.P.2    Bruce, J.A.3
  • 30
    • 0031571138 scopus 로고    scopus 로고
    • Sequencing of N-linked oligosaccharides directly from protein gels: in-gel deglycosylation followed by matrix-assisted laser desorption/ionization mass spectrometry and normal-phase high-performance liquid chromatography
    • Kuster B., Wheeler S.F., Hunter A.P., et al. Sequencing of N-linked oligosaccharides directly from protein gels: in-gel deglycosylation followed by matrix-assisted laser desorption/ionization mass spectrometry and normal-phase high-performance liquid chromatography. Anal. Biochem. 1997, 250(1):82-101.
    • (1997) Anal. Biochem. , vol.250 , Issue.1 , pp. 82-101
    • Kuster, B.1    Wheeler, S.F.2    Hunter, A.P.3
  • 31
    • 34447310112 scopus 로고    scopus 로고
    • Detailed structural analysis of N-glycans released from glycoproteins in SDS-PAGE gel bands using HPLC combined with exoglycosidase array digestions
    • Royle L., Radcliffe C.M., Dwek R.A., et al. Detailed structural analysis of N-glycans released from glycoproteins in SDS-PAGE gel bands using HPLC combined with exoglycosidase array digestions. Methods Mol. Biol. 2006, 347:125-143.
    • (2006) Methods Mol. Biol. , vol.347 , pp. 125-143
    • Royle, L.1    Radcliffe, C.M.2    Dwek, R.A.3
  • 32
    • 80054016444 scopus 로고    scopus 로고
    • High throughput isolation and glycosylation analysis of IgG - variability and heritability of the IgG glycome in three isolated human populations
    • M111 010090.
    • M. Pucic, A. Knezevic, J. Vidic, et al., High throughput isolation and glycosylation analysis of IgG - variability and heritability of the IgG glycome in three isolated human populations, Mol. Cell Proteomics 10 (10) (2011) M111 010090.
    • (2011) Mol. Cell Proteomics , vol.10 , Issue.10
    • Pucic, M.1    Knezevic, A.2    Vidic, J.3
  • 33
    • 0029962752 scopus 로고    scopus 로고
    • Site-specific glycosylation of human immunoglobulin G is altered in four rheumatoid arthritis patients
    • Youings A., Chang S.C., Dwek R.A., et al. Site-specific glycosylation of human immunoglobulin G is altered in four rheumatoid arthritis patients. Biochem. J. 1996, 314(Pt 2):621-630.
    • (1996) Biochem. J. , vol.314 , Issue.PART 2 , pp. 621-630
    • Youings, A.1    Chang, S.C.2    Dwek, R.A.3
  • 34
    • 77956029448 scopus 로고    scopus 로고
    • Glycan characterization of PSA 2-DE subforms from serum and seminal plasma
    • Sarrats A., Saldova R., Comet J., et al. Glycan characterization of PSA 2-DE subforms from serum and seminal plasma. OMICS 2010, 14(4):465-474.
    • (2010) OMICS , vol.14 , Issue.4 , pp. 465-474
    • Sarrats, A.1    Saldova, R.2    Comet, J.3
  • 35
    • 0031946087 scopus 로고    scopus 로고
    • Defective galactosylation of serum transferrin in galactosemia
    • Charlwood J., Clayton P., Keir G., et al. Defective galactosylation of serum transferrin in galactosemia. Glycobiology 1998, 8(4):351-357.
    • (1998) Glycobiology , vol.8 , Issue.4 , pp. 351-357
    • Charlwood, J.1    Clayton, P.2    Keir, G.3
  • 36
    • 10744225031 scopus 로고    scopus 로고
    • Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis
    • Butler M., Quelhas D., Critchley A.J., et al. Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesis. Glycobiology 2003, 13(9):601-622.
    • (2003) Glycobiology , vol.13 , Issue.9 , pp. 601-622
    • Butler, M.1    Quelhas, D.2    Critchley, A.J.3
  • 37
    • 60949099654 scopus 로고    scopus 로고
    • Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF)
    • Quintana E., Navarro-Sastre A., Hernandez-Perez J.M., et al. Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF). Clin. Biochem. 2009, 42(4-5):408-415.
    • (2009) Clin. Biochem. , vol.42 , Issue.4-5 , pp. 408-415
    • Quintana, E.1    Navarro-Sastre, A.2    Hernandez-Perez, J.M.3
  • 38
    • 0031475011 scopus 로고    scopus 로고
    • Carbohydrate-deficient transferrin in galactosaemia
    • Stibler H., von Dobeln U., Kristiansson B., et al. Carbohydrate-deficient transferrin in galactosaemia. Acta Paediatr. 1997, 86(12):1377-1378.
    • (1997) Acta Paediatr. , vol.86 , Issue.12 , pp. 1377-1378
    • Stibler, H.1    von Dobeln, U.2    Kristiansson, B.3
  • 39
    • 0031015317 scopus 로고    scopus 로고
    • Altered follicle stimulating hormone isoforms in female galactosaemia patients
    • Prestoz L.L., Couto A.S., Shin Y.S., et al. Altered follicle stimulating hormone isoforms in female galactosaemia patients. Eur. J. Pediatr. 1997, 156(2):116-120.
    • (1997) Eur. J. Pediatr. , vol.156 , Issue.2 , pp. 116-120
    • Prestoz, L.L.1    Couto, A.S.2    Shin, Y.S.3
  • 40
    • 0026492422 scopus 로고
    • Serum lysosomal enzyme abnormalities in galactosaemia
    • Jaeken J., Kint J., Spaapen L. Serum lysosomal enzyme abnormalities in galactosaemia. Lancet 1992, 340(8833):1472-1473.
    • (1992) Lancet , vol.340 , Issue.8833 , pp. 1472-1473
    • Jaeken, J.1    Kint, J.2    Spaapen, L.3
  • 41
    • 34548392353 scopus 로고    scopus 로고
    • Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model
    • Slepak T.I., Tang M., Slepak V.Z., et al. Involvement of endoplasmic reticulum stress in a novel Classic Galactosemia model. Mol. Genet. Metab. 2007, 92(1-2):78-87.
    • (2007) Mol. Genet. Metab. , vol.92 , Issue.1-2 , pp. 78-87
    • Slepak, T.I.1    Tang, M.2    Slepak, V.Z.3
  • 42
    • 25844445924 scopus 로고    scopus 로고
    • Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia
    • Sturiale L., Barone R., Fiumara A., et al. Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology 2005, 15(12):1268-1276.
    • (2005) Glycobiology , vol.15 , Issue.12 , pp. 1268-1276
    • Sturiale, L.1    Barone, R.2    Fiumara, A.3
  • 43
    • 0030996004 scopus 로고    scopus 로고
    • Structural changes of immunoglobulin G oligosaccharides with age in healthy human serum
    • Yamada E., Tsukamoto Y., Sasaki R., et al. Structural changes of immunoglobulin G oligosaccharides with age in healthy human serum. Glycoconj. J. 1997, 14(3):401-405.
    • (1997) Glycoconj. J. , vol.14 , Issue.3 , pp. 401-405
    • Yamada, E.1    Tsukamoto, Y.2    Sasaki, R.3
  • 44
    • 0023912648 scopus 로고
    • Age-related galactosylation of the N-linked oligosaccharides of human serum IgG
    • Parekh R., Roitt I., Isenberg D., et al. Age-related galactosylation of the N-linked oligosaccharides of human serum IgG. J. Exp. Med. 1988, 167(5):1731-1736.
    • (1988) J. Exp. Med. , vol.167 , Issue.5 , pp. 1731-1736
    • Parekh, R.1    Roitt, I.2    Isenberg, D.3
  • 45
    • 33846918694 scopus 로고    scopus 로고
    • Mini review: immune response to myelin-derived sulfatide and CNS-demyelination
    • Halder R.C., Jahng A., Maricic I., et al. Mini review: immune response to myelin-derived sulfatide and CNS-demyelination. Neurochem. Res. 2007, 32(2):257-262.
    • (2007) Neurochem. Res. , vol.32 , Issue.2 , pp. 257-262
    • Halder, R.C.1    Jahng, A.2    Maricic, I.3
  • 46
    • 45849106487 scopus 로고    scopus 로고
    • White matter in learning, cognition and psychiatric disorders
    • Fields R.D. White matter in learning, cognition and psychiatric disorders. Trends Neurosci. 2008, 31(7):361-370.
    • (2008) Trends Neurosci. , vol.31 , Issue.7 , pp. 361-370
    • Fields, R.D.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.