Research article on advanced mass spectrometry analysis of disease-associated Asn-linked glycoconjugates in NGLY1 deficiency has been published

2025.12.17

Structural characterization and insights into the formation of N-acetylglucosaminylasparagine and its derivatives in NGLY1-deficient models and patients

Publication
Published Date : November 25, 2025

NGLY1 deficiency is characterized by the accumulation of Asn-GlcNAc in blood and urine, which have been highlighted as disease-specific biomarkers. In this study, we demonstrated that ENGase, proteasomes, and peptidases are essential for generation of Asn-GlcNAc. Furthermore, previously unreported elongated glycans, including Asn–GlcNAc–GalNAc and Asn–GlcNAc–Gal–NeuAc, were identified.
Axcelead was responsible for mass spectrometry-based structural analysis, including high-accuracy mass measurement, fragmentation analysis, isomer prediction, and quantitative comparison across multiple biological samples. In particular, for novel glycan structures that could not be identified by conventional glycan libraries, we improved structural prediction accuracy through high-resolution MS and MS/MS spectrum analysis, contributing to the acquisition of highly reproducible data.
These findings advance the understanding of the pathophysiology of NGLY1 deficiency and provide a foundation for future applications in clinical diagnosis and therapeutic monitoring. Ultimately, this work may support biomarker development and improved patient care.

Related Service: Multiple Omics Platform for Precision Drug Discovery

Axcelead DDP Solution
Axcelead provides comprehensive analytical solutions for biomolecule characterization using mass spectrometry, including metabolomics and proteomics. Our capabilities cover a wide range of sample types such as cultured cells, animal models, and clinical specimens. By integrating advanced sample preparation workflows with high-sensitivity and high-accuracy mass spectrometry and quantitative methodologies, we enable broad molecular profiling of glycans, peptides, proteins, metabolites, and other biological molecules.
We have experiences in analyzing novel or previously uncharacterized biomolecules that are often difficult to identify or quantify using conventional analytical approaches. Our multi-layered analytical strategies and technology development capabilities support applications ranging from hypothesis-driven research and exploratory studies to biomarker discovery, efficacy and toxicity evaluation, and translational research.
If you are considering omics-based studies or require analytical support for novel biomolecule evaluation, we welcome the opportunity to support your research. Axcelead is committed to enabling high-quality data generation that accelerates research and development.