CDG biochemical screening: Where do we stand?

Biochimica Et Biophysica Acta. General Subjects
Arnaud BruneelFrançois Fenaille

Abstract

Glycosylation is one of the most complex post-translational modifications of proteins and lipids, notably requiring many glycosyltransferases, glycosidases and sugar transporters encoded by about 1-2% of all human genes. Deleterious variants in any of them may result in improper protein or lipid glycosylation, thus yielding the so-called 'congenital disorders of glycosylation' or CDG. We first review the current state of knowledge on the common blood and cellular glycoproteins used in the biochemical screening of CDG, as well as the emerging ones for an improved diagnosis. We then provide an overview of the current state-of-the-art methodologies ranging from gel electrophoresis to mass spectrometry to measure improper glycosylation. Finally, we discuss how additional tools such as metabolomics and microfluidics can be added to the current toolbox to better diagnose and delineate CDG. Combining several biochemical indicators and related methods is often required to cope with the large clinical heterogeneity of CDG and establish a definitive diagnosis. This review aims to critically present current available CDG biochemical biomarkers and dedicated methods in the context of highly diverse glycosylation pathways and related inheri...Continue Reading

References

Dec 29, 1984·Clinica Chimica Acta; International Journal of Clinical Chemistry·J JaekenE Eggermont
Aug 1, 1993·The Journal of Cell Biology·J M Ervasti, K P Campbell
Apr 1, 1996·The Biochemical Journal·J P SalierM Daveau
Oct 29, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·N SetaG Durand
Aug 2, 2003·Journal of Inherited Metabolic Disease·P B MillsP T Clayton
Oct 28, 2003·Clinical Chemistry·Anders HelanderJan-Olof Jeppsson
Jan 27, 2005·Journal of Inherited Metabolic Disease·J FangG F Hoffmann
Feb 15, 2005·Drug Discovery Today·Peter T GommeJoseph Bertolini
Jun 13, 2006·Nature Medicine·Antonio M AlmeidaAnastasios Karadimitris
Sep 8, 2007·Molecular & Cellular Proteomics : MCP·Andreas J HülsmeierThierry Hennet
Sep 18, 2007·Neuromuscular Disorders : NMD·Hiroshi ManyaPascale Guicheney
Dec 28, 2007·Neurology·R A PeatK N North
Jul 18, 2009·Journal of Chromatography. B, Analytical Technologies in the Biomedical and Life Sciences·Ester QuintanaRafael Artuch
Dec 1, 2009·Biochemical and Biophysical Research Communications·Christina RochChristian Götting
Dec 8, 2010·Proteomics. Clinical Applications·Rosa PeracaulaPauline M Rudd
Jan 29, 2011·Clinical Chemistry·Maïlys GuillardDirk J Lefeber
Mar 25, 2011·Journal of Inherited Metabolic Disease·Mailys GuillardDirk J Lefeber
Jul 9, 2011·Journal of Inherited Metabolic Disease·Dirk J LefeberJaak Jaeken
Sep 20, 2012·Journal of Inherited Metabolic Disease·Christian ThielChristian Körner
Jan 22, 2013·Proteomics·Simone NicolardiAndré M Deelder
Feb 11, 2014·American Journal of Human Genetics·Hudson H FreezeBobby G Ng
Apr 11, 2014·The New England Journal of Medicine·Mohammed A SadatSergio D Rosenzweig
May 17, 2014·Biochimica Et Biophysica Acta·Morten Thaysen-Andersen, Nicolle H Packer

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Citations

Dec 11, 2020·Human Mutation·Claudia CastiglioniMercedes Serrano
Mar 2, 2021·Molecular Genetics and Metabolism Reports·Patryk LipińskiAnna Tylki-Szymańska
May 23, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Alexandre RaynorArnaud Bruneel
Jun 19, 2021·Molecular Genetics and Metabolism Reports·Soraya SakhiArnaud Bruneel
Jul 11, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Alexandre RaynorArnaud Bruneel

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