Clinical glycomics for the diagnosis of congenital disorders of glycosylation

Journal of Inherited Metabolic Disease
Nurulamin Abu BakarMonique van Scherpenzeel

Abstract

Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy development, as was described for PGM1-CDG. Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG. This review provides an introduction into protein glycosylation and presents the different glycomics methodologies ranging from gel electrophoresis to mass spectrometry (MS) and from free glycans to intact glycoproteins. The role of glycomics in the diagnosis of congenital disorders of glycosylation (CDG) is presented, including a diagnostic flow chart and an overview of glycomics data of known CDG subtypes. The review ends with some future perspectives, showing upcoming technologies as system wide mapping of the N- and O-glycoproteome, intact glycoprotein profiling and analysis of sugar metabolism. These new advances will provide additional insights and opportunities to develop personalized therapy. This i...Continue Reading

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Citations

Apr 28, 2018·International Journal of Molecular Sciences·Sandra BrasilVanessa Dos Reis Ferreira
Sep 19, 2019·Glycoconjugate Journal·Luisa SturialeRita Barone
Aug 28, 2020·Journal of Inherited Metabolic Disease·Julien H ParkThorsten Marquardt
Jul 8, 2020·International Journal of Molecular Sciences·Peter T A LindersGeert van den Bogaart
Mar 19, 2019·Journal of Inherited Metabolic Disease·Jean-Marie SaudubrayAngeles Garcia-Cazorla
Aug 6, 2020·Scientific Reports·Robert G MealerJordan W Smoller
Oct 21, 2020·International Journal of Molecular Sciences·Agnes L Hipgrave EderveenManfred Wuhrer
Jun 9, 2020·Biochimica Et Biophysica Acta. General Subjects·Arnaud BruneelFrançois Fenaille
Mar 2, 2021·Glycoconjugate Journal·Gabriela Magali PapazogluCarla Gabriela Asteggiano
Apr 24, 2021·IScience·Luisa SturialeDomenico Garozzo
May 23, 2021·Clinica Chimica Acta; International Journal of Clinical Chemistry·Alexandre RaynorArnaud Bruneel
Jun 8, 2021·Brain & Development·Takuya HiraideHirotomo Saitsu
Jul 21, 2021·Biochemical Society Transactions·Tiago OliveiraDaniel Kolarich
Feb 19, 2019·Clinica Chimica Acta; International Journal of Clinical Chemistry·E A BarbosaG D Brand

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Methods Mentioned

BETA
exome sequencing
glycosylation
protein folding
ion exchange chromatography
two hybrid

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