biostudies-literatureWessels HJCTDutch Research Council (NWO)179-192https://www.ebi.ac.uk/biostudies/studies/S-EPMC11258658biostudies-literatureUnknown61<h4>Introduction</h4>The human plasma glycoproteome holds enormous potential to identify personalized biomarkers for diagnostics. Glycoproteomics has matured into a technology for plasma N-glycoproteome analysis but further evolution towards clinical applications depends on the clinical validity and understanding of protein- and site-specific glycosylation changes in disease.<h4>Objectives</h4>Here, we exploited the uniqueness of a patient cohort of genetic defects in well-defined glycosylation pathways to assess the clinical applicability of plasma N-glycoproteomics.<h4>Methods</h4>Comparative glycoproteomics was performed of blood plasma from 40 controls and 74 patients with 13 different genetic diseases that impact the protein N-glycosylation pathway. Baseline glycosylation in healthy iJournal of advanced researchPlasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities.PMC11258658184.034.019Kulkarni PPengelley Svan Dael MKragt EZijlstra FWillems EGloerich JSuppers AMarx KSchmit POLefeber DJWessels HJCTvan Gool AJfalsePlasma glycoproteomics delivers high-specificity disease biomarkers by detecting site-specific glycosylation abnormalities.<h4>Introduction</h4>The human plasma glycoproteome holds enormous potential to identify personalized biomarkers for diagnostics. Glycoproteomics has matured into a technology for plasma N-glycoproteome analysis but further evolution towards clinical applications depends on the clinical validity and understanding of protein- and site-specific glycosylation changes in disease.<h4>Objectives</h4>Here, we exploited the uniqueness of a patient cohort of genetic defects in well-defined glycosylation pathways to assess the clinical applicability of plasma N-glycoproteomics.<h4>Methods</h4>Comparative glycoproteomics was performed of blood plasma from 40 controls and 74 patients with 13 different genetic diseases that impact the protein N-glycosylation pathway. Baseline glycosylation in healthy i2024-01-01T00:00:00Z2024 Jul2026-06-01T06:42:55.371Z2025-05-18T13:26:26.588ZS-EPMC112586583768372510.1016/j.jare.2023.09.002