ArticleScientific reports2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Article in Scientific reports, 2019. 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, 14 citations in OpenAlex.
- Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis.Molecular genetics and metabolism · 2026Article
- Hybrid lipid-AuNP clusters as highly efficient SERS substrates for biomedical applications.Nature communications · 2024Article
- Identification of GM1-Ganglioside Secondary Accumulation in Fibroblasts from Neuropathic Gaucher Patients and Effect of a Trivalent Trihydroxypiperidine Iminosugar Compound on Its Storage Reduction.Molecules (Basel, Switzerland) · 2024Article
- Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis.Frontiers in genetics · 2024Article
- Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 PatientsBalkan medical journal · 2022Article
- Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann-Pick Type C.Biomedicines · 2022Article
- Phenotypical changes of satellite glial cells in a murine model of GJournal of cellular and molecular medicine · 2022Article
- Current and Future Prospects for Gene Therapy for Rare Genetic Diseases Affecting the Brain and Spinal Cord.Frontiers in molecular neuroscience · 2021Review
- GM1 Gangliosidosis-A Mini-Review.Frontiers in genetics · 2021Review
- GM1 Gangliosidosis: Mechanisms and Management.The application of clinical genetics · 2021Review
- Exploiting CRISPR Cas9 in Three-Dimensional Stem Cell Cultures to Model Disease.Frontiers in bioengineering and biotechnology · 2020Review
Corrections and comments
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Authors and funding
20 authors at 10 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
GM1 ganglioside, a monosialic glycosphingolipid and a crucial component of plasma membranes, accumulates in lysosomal storage disorders, primarily in GM1 gangliosidosis. The development of biomarkers for simplifying diagnosis, monitoring disease progression and evaluating drug therapies is an important objective in research into neurodegenerative lysosomal disorders. With this in mind, we established fluorescent imaging and flow-cytometric methods to track changes in GM1 ganglioside levels in patients with GM1 gangliosidosis and in control cells. We also evaluated GM1 ganglioside content in patients' cells treated with the commercially available Miglustat, a substrate inhibitor potentially suitable for the treatment of late-onset GM1 gangliosidosis. The flow-cytometric method proved to be sensitive, unbiased, and rapid in determining variations in GM1 ganglioside content in human lymphocytes derived from small amounts of fresh blood. We detected a strong correlation between GM1 ganglioside content and the clinical severity of GM1 gangliosidosis. We confirm the ability of Miglustat to act as a substrate reduction agent in the patients' treated cells. As well as being suitable for diagnosing and managing patients with GM1 gangliosidosis this method could be useful in the diagnosis and management of other lysosomal diseases, such as galactosialidosis, Type C Niemann-Pick, and any other disease with pathologic variations of GM1 ganglioside.
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