ArticleMolecular genetics and metabolism reports2019
Characterization of glycan substrates accumulating in GM1 Gangliosidosis.
Article in Molecular genetics and metabolism reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.Molecular genetics and metabolism · 2026Article
- Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism.Scientific reports · 2025Article
- PGRN as an emerging regulator of lipid metabolism in neurodegenerative diseases.Communications biology · 2025Review
- Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.PloS one · 2025Article
- UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.Biomolecules · 2024Article
- Deciphering mouse brain spatial diversity via glyco-lipidomic mapping.Nature communications · 2024Article
- Validation of high-sensitivity assays to quantitate cerebrospinal fluid and serum β-galactosidase activity in patients with GM1-gangliosidosis.Molecular therapy. Methods & clinical development · 2024Article
- Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis.Clinical chemistry · 2024Article
- A pentasaccharide for monitoring pharmacodynamic response to gene therapy in GM1 gangliosidosis.EBioMedicine · 2023Article
- Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.Molecular genetics and metabolism · 2023Article
- Glycosphingolipid Changes in Plasma in Parkinson's Disease Independent of Glucosylceramide Levels.Movement disorders : official journal of the Movement Disorder Society · 2022Article
- Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 PatientsBalkan medical journal · 2022Article
- Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients.Molecular genetics and metabolism reports · 2022Article
- GM1 Gangliosidosis: Mechanisms and Management.The application of clinical genetics · 2021Review
- GM1 Gangliosidosis-A Mini-Review.Frontiers in genetics · 2021Review
- Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiencyThe Journal of biological chemistry · 2020Article
- Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.The Journal of biological chemistry · 2020Article
- Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry.International journal of molecular sciences · 2020Review
- Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease.International journal of molecular sciences · 2020Review
- Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.PloS one · 2020Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionGM1 gangliosidosis is a rare autosomal recessive genetic disorder caused by the disruption of the
objectiveIn this study, we attempt to fully characterize the broad array of GLB1 substrates that require GLB1 for their lysosomal turnover.
resultsUsing tandem mass spectrometry and glycan reductive isotope labeling with data-dependent mass spectrometry, we have confirmed the accumulation of glycolipids (GM1 and GA1) and N-linked glycans with terminal beta-linked galactose. We have also discovered a novel set of core 1 and 2 O-linked glycan metabolites, many of which are part of structurally-related isobaric series that accumulate in disease. In the brain of
conclusionsOur studies illustrate that GLB1 deficiency is not purely a ganglioside accumulation disorder, but instead a broad oligosaccharidosis that include representatives of many β-linked galactose containing glycans and glycoconjugates including glycolipids, N-linked glycans, and various O-linked glycans. Accounting for all β-galactosidase substrates that accumulate when this enzyme is deficient increases our understanding of this severe disorder by identifying metabolites that may drive certain aspects of the disease and may also serve as informative disease biomarkers to fully evaluate the efficacy of future therapies.
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