ArticlePloS one2010
Ganglioside GM3 levels are altered in a mouse model of HIBM: GM3 as a cellular marker of the disease.
Article in PloS one, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 23 citations in OpenAlex.
- 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
- Different electrophysiology patterns in GNE myopathy.Orphanet journal of rare diseases · 2022Article
- Tissue specific expression of sialic acid metabolic pathway: role in GNE myopathy.Journal of muscle research and cell motility · 2021Article
- 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
- Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases.Frontiers in molecular neuroscience · 2017Review
- GNE Myopathy and Cell Apoptosis: A Comparative Mutation Analysis.Molecular neurobiology · 2016Article
- UDP-GlcNAc 2-Epimerase/ManNAc Kinase (GNE): A Master Regulator of Sialic Acid Synthesis.Topics in current chemistry · 2015Review
- Non-specific accumulation of glycosphingolipids in GNE myopathy.Journal of inherited metabolic disease · 2014Article
- Sialylation of Thomsen-Friedenreich antigen is a noninvasive blood-based biomarker for GNE myopathy.Biomarkers in medicine · 2014Article
- Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.Molecular genetics and metabolism · 2012Article
- Implications for the mammalian sialidases in the physiopathology of skeletal muscle.Skeletal muscle · 2012Article
- Comparative plasma lipidome between human and cynomolgus monkey: are plasma polar lipids good biomarkers for diabetic monkeys?PloS one · 2011Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveHIBM (Hereditary Inclusion Body Myopathy) is a recessive hereditary disease characterized by adult-onset, slowly progressive muscle weakness sparing the quadriceps. It is caused by a single missense mutation of each allele of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene, a bifunctional enzyme catalyzing the first two steps of sialic acid synthesis in mammals. However, the mechanisms and cellular pathways affected by the GNE mutation and causing the muscle weakness could not be identified so far. Based on recent evidence in literature, we investigated a new hypothesis, i.e. the involvement in the disease of the GM3 ganglioside, a specific glycolipid implicated in muscle cell proliferation and differentiation.
methodsqRT-PCR analysis of St3gal5 (GM3 synthase) gene expression and HPLC quantification of GM3 ganglioside were conducted on muscle tissue from a mouse model of HIBM harboring the M712T mutation of GNE (Gne(M712T/M712T) mouse) vs control mice (Gne(+/+) mouse).
resultsSt3gal5 mRNA levels were significantly lower in Gne(M712T/M712T) mouse muscles vs Gne(+/+) mouse muscles (64.41%+/-10% of Gne(+/+) levels). GM3 ganglioside levels showed also a significant decrease in Gne(M712T/M712T) mouse muscle compared to Gne(+/+) mouse muscle (18.09%+/-5.33% of Gne(+/+) levels). Although these Gne(M712T/M712T) mice were described to suffer severe glomerular proteinuria, no GM3 alterations were noted in kidneys, highlighting a tissue specific alteration of gangliosides.
conclusionThe M712T mutation of GNE hampers the muscle ability to synthesize normal levels of GM3. This is the first time that a mutation of GNE can be related to the molecular pathological mechanism of HIBM.
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