ArticleBiomarkers in medicine2014
Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.
Article in Biomarkers in medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 21 citations in OpenAlex.
- Assessment of Lectin Staining Biomarkers for GNE Myopathy Gene Therapy.Muscle & nerve · 2026Article
- Article
- Assessment of Lectin Staining Biomarkers using a Murine Model of GNE Myopathy.microPublication biology · 2025Article
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
- The role of amyloid β in the pathological mechanism of GNE myopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Review
- The role of protein glycosylation in muscle diseases.Molecular biology reports · 2022Review
- GNE myopathy: History, etiology, and treatment trials.Frontiers in neurology · 2022Review
- Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?Brain sciences · 2021Review
- Krebs von den Lungen 6 decreased in the serum and muscle of GNE myopathy patients.Neuropathology : official journal of the Japanese Society of Neuropathology · 2021Article
- The Potential Action of Thomsen-Friedenreich Monoclonal Antibody (A78-G/A7) in Thyroid Cancer.OncoTargets and therapy · 2020Article
- GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Quantification of lectin fluorescence in GNE myopathy muscle biopsies.Muscle & nerve · 2018Article
- GNE myopathy: from clinics and genetics to pathology and research strategies.Orphanet journal of rare diseases · 2018Review
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
- A One-Step Chemoenzymatic Labeling Strategy for Probing Sialylated Thomsen-Friedenreich Antigen.ACS central science · 2018Article
- Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model.PloS one · 2017Article
- Intravenous immunoglobulin in neurology--mode of action and clinical efficacy.Nature reviews. Neurology · 2015Review
Corrections and comments
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Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
Abstract
aimThe exact pathomechanism of GNE myopathy remains elusive, but likely involves aberrant sialylation. We explored sialylation status of blood-based glycans as potential disease markers.
methodsWe employed immunoblotting, lectin histochemistry and mass spectrometry.
resultsGNE myopathy muscle showed hyposialylation of predominantly O-linked glycans. The O-linked glycome of patients' plasma compared with controls showed increased amounts of desialylated Thomsen-Friedenreich (T)-antigen, and/or decreased amounts of its sialylated form, ST-antigen. Importantly, all patients had increased T/ST ratios compared with controls. These ratios were normalized in a patient treated with intravenous immunoglobulins as a source of sialic acid. DISCUSSION: GNE myopathy clinical trial data will reveal whether T/ST ratios correlate to muscle function.
conclusionPlasma T/ST ratios are a robust blood-based biomarker for GNE myopathy, and may also help explain the pathology and course of the disease.
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