ReviewGlycoconjugate journal2016
Mass spectrometry of transferrin and apolipoprotein C-III for diagnosis and screening of congenital disorder of glycosylation.
Review in Glycoconjugate journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.International journal of molecular sciences · 2026Article
- Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan.JIMD reports · 2025Article
- Quantitative Assessment of Core Fucosylation for Congenital Disorders of Glycosylation.Mass spectrometry (Tokyo, Japan) · 2024Article
- Article
- N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.Journal of inherited metabolic disease · 2020Article
- Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation.Mass spectrometry (Tokyo, Japan) · 2020Article
- Disruption of the Responsible Gene in a Phosphoglucomutase 1 Deficiency Patient by Homozygous Chromosomal Inversion.JIMD reports · 2019Article
- Clinical glycomics for the diagnosis of congenital disorders of glycosylation.Journal of inherited metabolic disease · 2018Review
- Recent Advances in the Mass Spectrometry Methods for Glycomics and Cancer.Analytical chemistry · 2018Review
- Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1.American journal of medical genetics. Part A · 2017Article
- What is new in CDG?Journal of inherited metabolic disease · 2017Review
Corrections and comments
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Authors and funding
1 author.
Funding
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Abstract
Congenital disorder of glycosylation (CDG), formerly representing a group of diseases due to defects in the biosynthetic pathway of protein N-glycosylation, currently covers a wide range of disorders affecting glycoconjugates. Since its first application to serum transferrin from a CDG patient with phosphomannomutase-2 deficiency in 1992, mass spectrometry (MS) has been playing a key role in identification and characterization of glycosylation defects affecting glycoproteins. MS of native transferrin detects a lack of glycans characteristic to the classical CDG-I type of molecular abnormality. Electrospray ionization MS of native transferrin, especially, allows glycoforms to be analyzed precisely but requires basic knowledge regarding deconvolution of multiply-charged ions which may generate ghost signals upon transformation into a singly-charged form. MS of glycopeptides from tryptic digestion of transferrin delineates site-specific glycoforms and reveals a delicate balance of donor/acceptor substrates or the conformational effect of nascent proteins in cells. Matrix-assisted laser desorption ionization MS of apolipoprotein C-III is a simple method of elucidating the profiles of mucin-type core 1 O-glycans including site occupancy and glycoforms. In this technological review, the principle and pitfalls of MS for CDG are discussed and mass spectra of various types of CDG are presented.
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