Two dimensional gel electrophoresis of apolipoprotein C-III and MALDI-TOF MS are complementary techniques for the study of combined defects in N- and mucin type O-glycan biosynthesis

Proteomics - Clinical Applications

Volumn 2, Issue 12, 2008, Pages 1670-1674

  Bruneel, Arnaud ^a,b   Morelle, Willy ^c   Carre, Yoann ^c   Habarou, Florence ^a   Dupont, Damien ^a   Hesbert, Aurélie ^a   Durand, Geneviève ^a,b   Michalski, Jean Claude ^c   Drouin Gerraud, Velérie ^d   Seta, Nathalie ^a  

^a BICHAT HOSPITAL   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c UNIVERSITÉ DES SCIENCES ET TECHNOLOGIES DE LILLE   (France)

^d Rouen Hospital   (France)

Author keywords

Apolipoprotein C III; CDG; Electrophoresis; MALDI TOF; N and O glycosylation; Two dimensional

Indexed keywords

APOLIPOPROTEIN C3; GLYCOPEPTIDASE; MUCIN;

ANTERIOR FONTANEL; ARTICLE; CASE REPORT; CONTROLLED STUDY; CUTIS LAXA; FEMALE; HUMAN; MALE; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MENTAL DEFICIENCY; MUSCLE HYPOTONIA; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN DEFECT; PROTEIN GLYCOSYLATION; PROTEIN SYNTHESIS; STRABISMUS; SYNDACTYLY; TWO DIMENSIONAL GEL ELECTROPHORESIS; WESTERN BLOTTING; WRINKLE;

EID: 58449105048     PISSN: 18628346     EISSN: None     Source Type: Journal    
DOI: 10.1002/prca.200800089     Document Type: Article

References (16)

1. Tarelli, E., Smith, A. C., Hendry, B. M., Challacombe, S. J. et al., Human serum IgA1 is substituted with up to six O-glycans as shown by matrix assisted laser desorption ionisation time-of-flight mass spectrometry. Carbohydr. Res. 2004, 339, 2329-2335.
2. Wopereis, S., Lefeber, D. J., Morava, E., Wevers, R. A., Mechanisms in protein O-glycan biosynthesis and clinical and molecular aspects of protein O-glycan biosynthesis defects: A review. Clin. Chem. 2006, 52, 574-600.
3. Wopereis, S., Grunewald, S., Morava, E., Penzien, J. M. et al., Apolipoprotein C-III isofocusing in the diagnosis of genetic defects in O-glycan biosynthesis. Clin. Chem. 2003, 49, 1839-1845.
4. Wu, X., Steet, R. A., Bohorov, O., Bakker, J. et al., Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder. Nat. Med. 2004, 10, 518-523.
5. Foulquier, F., Vasile, E., Schollen, E., Callewaert, N. et al., Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II. Proc. Natl. Acad. Sci. USA 2006, 103, 3764-3769.
6. Foulquier, F., Ungar, D., Reynders, E., Zeevaert, R. et al., Anew inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation. Hum. Mol. Genet. 2007, 16, 717-730.
7. Wopereis, S., Abd Hamid, U. M., Critchley, A., Royle, L. et al., Abnormal glycosylation with hypersialylated O-glycans in patients with Sialuria. Biochim. Biophys. Acta 2006, 1762, 598-607.
8. Wopereis, S., Morava, E., Grunewald, S., Mills, P. B. et al., A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: The biochemical characteristics. Biochim. Biophys. Acta 2005, 1741, 156-164.
9. Faid, V., Chirat, F., Seta, N., Foulquier, F. et al., A rapid mass spectrometric strategy for the characterization of N- and Oglycan chains in the diagnosis of defects in glycan biosynthesis. Proteomics 2007, 7, 1800-1813.
10. Wada, Y., Azadi, P., Costello, C. E., Dell, A. et al., Comparison of the methods for profiling glycoprotein glycans - HUPO human disease glycomics/proteome initiative multi-institutional study. Glycobiology 2007, 17, 411-422.
11. Bruneel, A., Robert, T., Lefeber, D. J., Benard, G. et al., Two-dimensional gel electrophoresis of apolipoprotein C-III and other serum glycoproteins for the combined screening of human congenital disorders of O- and N-glycosylation. Proteomics Clin. Appl. 2007, 1, 321-324.
12. Wada, Y., Mass spectrometry for congenital disorders of glycosylation, CDG. J. Chromatogr., B Anal. Technol. Biomed. Life Sci. 2006, 838, 3-8.
13. Noll, B., Hackler, R., Pelzer, M., Pelzer, S. et al., Semi-automated rapid isoelectric focusing of apolipoproteins C from human plasma using Phastsystem and immunofixation. Clin. Chem. Lab. Med. 1999, 37, 643-648.
14. Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G. et al., Defective protein glycosylation in patients with cutis laxa syndrome. Eur. J. Hum. Genet. 2005, 13, 414-421.
15. Morava, E., Zeevaert, R., Korsch, E., Huijben, K. et al., A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Eur. J. Hum. Genet. 2007, 15, 638-645.
16. Kornak, U., Reynders, E., Dimopoulou, A., van Reeuwijk, J. et al., Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nat. Genet. 2008, 40, 32-34.