A novel N-tetrasaccharide in patients with congenital disorders of glycosylation, including asparagine-linked glycosylation protein 1, phosphomannomutase 2, and mannose phosphate isomerase deficiencies

Clinical Chemistry

Volumn 62, Issue 1, 2016, Pages 208-217

  Zhang, Wenyue ^a   James, Philip M ^b,c   Ng, Bobby G ^d   Li, Xueli ^e   Xia, Baoyun ^a   Rong, Jiang ^a   Asif, Ghazia ^a   Raymond, Kimiyo ^f   Jones, Melanie A ^a   Hegde, Madhuri ^a   Ju, Tongzhong ^e   Cummings, Richard D ^a   Clarkson, Katie ^f   Wood, Tim ^g   Boerkoel, Cornelius F ^h   Freeze, Hudson H ^d   He, Miao ^e,i  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c HARVARD MEDICAL SCHOOL   (United States)

^d BURNHAM INSTITUTE   (United States)

^e CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^f MAYO CLINIC COLLEGE OF MEDICINE   (United States)

^g GREENWOOD GENETIC CENTER   (United States)

^h UNIVERSITY OF BRITISH COLUMBIA   (Canada)

ⁱ UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ASPARAGINE LINKED GLYCOSYLATION PROTEIN 1; CARBOHYDRATE; CHITOBIOSYLDIPHOSPHODOLICHOL BETA MANNOSYLTRANSFERASE; DISIALOTRANSFERRIN; GLYCOPROTEIN; MANNOSE; MANNOSE PHOSPHATE ISOMERASE; N TETRASACCHARIDE; PHOSPHOMANNOMUTASE 2; TETRATRANSFERRIN; TRANSFERRIN; UNCLASSIFIED DRUG; CHITOBIOSYLDIPHOSPHODOLICHOL BETA-MANNOSYLTRANSFERASE; MANNOSYLTRANSFERASE; MUTASE; OLIGOSACCHARIDE; PHOSPHOMANNOMUTASE 2, HUMAN;

ARTICLE; ASPARAGINE LINKED GLYCOSYLATION PROTEIN 1 DEFICIENCY; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; HUMAN; LIQUID CHROMATOGRAPHY; MANNOSE PHOSPHATE ISOMERASE DEFICIENCY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; PHOSPHOMANNOMUTASE 2 DEFICIENCY; TANDEM MASS SPECTROMETRY; CONGENITAL DISORDERS OF GLYCOSYLATION; DEFICIENCY; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MATRIX-ASSISTED LASER DESORPTION-IONIZATION MASS SPECTROMETRY; METABOLISM;

CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CONGENITAL DISORDERS OF GLYCOSYLATION; HUMANS; MANNOSE-6-PHOSPHATE ISOMERASE; MANNOSYLTRANSFERASES; OLIGOSACCHARIDES; PHOSPHOTRANSFERASES (PHOSPHOMUTASES); SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION; TANDEM MASS SPECTROMETRY;

EID: 84954522367     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2015.243279     Document Type: Article

References (12)

1. Freeze HH, Chong JX, Bamshad MJ, Ng BG. Solving glycosylation disorders: fundamental approaches reveal complicated pathways. Am J Hum Genet 2014;94:161-75.
2. Steentoft C, Vakhrushev SY, Joshi HJ, Kong Y, Vester-Christensen MB, Schjoldager KT, et al. Precision mapping of the human O-GalNAc glycoproteome through SimpleCell technology. EMBO J 2013;32:1478-88.
3. Lacey JM, Bergen HR, Magera MJ, Naylor S, O'Brien JF. Rapid determination of transferrin isoforms by immunoaffinity liquid chromatography and electrospray mass spectrometry. Clin Chem 2001;47:513-8.
4. Xia B, Zhang W, Li X, Jiang R, Harper T, Liu R, Cummings RD, He M. Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorder of glycosylation. Anal Biochem 2013;442:178-85.
5. Xia B, Feasley CL, Sachdev GP, Smith DF, Cummings RD. Glycan reductive isotope labeling for quantitative glycomics. Anal Biochem 2009;387:162-70.
6. Xia B, Royall JA, Damera G, Sachdev GP, Cummings RD. Altered O-glycosylation and sulfation of airway mucins associated with cystic fibrosis. Glycobiology 2005;15:747-75.
7. Isono T. O-GlcNAc-specific antibody CTD110.6 crossreacts with N-GlcNAc2-modified proteins induced under glucose deprivation. PLoS One 2011;6:e18959.
8. Joziasse DH, Lee RT, Lee YC, Biessen EA, Schiphorst WE, Koeleman CA, van den Eijnden DH. alpha3-Galactosylated glycoproteins can bind to the hepatic asialoglycoprotein receptor. Eur J Biochem 2000;267:6501-8.
9. Timal S, Hoischen A, Lehle L, Adamowicz M, Huijben K, Sykut-Cegielska J, et al. Gene identification in the congenital disorders of glycosylation type I by wholeexome sequencing. Hum Mol Genet 2012;21:4151-61.
10. Matthijs G, Schollen E, Heykants L, Grunewald S. Phosphomannomutase deficiency: the molecular basis of the classical Jaeken syndrome (CDGS type Ia). Mol Genet Metab 1999;68:220-6.
11. Losfeld ME, Soncin F, Ng BG, Singec I, Freeze HH. A sensitive green fluorescent protein biomarker of N-glycosylation site occupancy. FASEB J 2012;26:4210-7.
12. Sone H, Shimano H, Ebinuma H, Takahashi A, Yano Y, Iida KT, et al. Physiological changes in circulating mannose levels in normal, glucose-intolerant, and diabetic subjects. Metabolism 2003;52:1019-27.