ArticleBiochemistry2011
Identification, tissue distribution, and molecular modeling of novel human isoforms of the key enzyme in sialic acid synthesis, UDP-GlcNAc 2-epimerase/ManNAc kinase.
Article in Biochemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 32 citations in OpenAlex.
- GNE Myopathy: 25 Years After Gene Identification-Facts, Controversies, Enigmas, Prospects.Journal of clinical medicine · 2026Review
- Biosynthetic and genetic pathways related to sialic acid metabolism.The Journal of biological chemistry · 2026Review
- Article
- Article
- A novel variant in the GNE gene in a Malian patient presenting with distal myopathy.Neurogenetics · 2024Article
- Understanding pathophysiology of GNE myopathy and current progress towards drug development.Journal of biosciences · 2024Review
- When a negative (charge) is not a positive: sialylation and its role in cancer mechanics and progression.Frontiers in oncology · 2024Review
- Glycation Interferes with the Activity of the Bi-Functional UDP-Biomolecules · 2023Article
- Tissue-specific isoform expression of GNE gene in human tissues.Journal of muscle research and cell motility · 2022Article
- A case report: identification of a novel exon 1 deletion mutation in the GNE gene in a Chinese patient with GNE myopathy.Medicine · 2020Article
- Quantitation of cytidine-5'-monophospho-N-acetylneuraminic acid in human leukocytes using LC-MS/MS: method development and validation.Biomedical chromatography : BMC · 2020Article
- Dissecting N-Glycosylation Dynamics in Chinese Hamster Ovary Cells Fed-batch Cultures using Time Course Omics Analyses.iScience · 2019Article
- GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Exploration of the Sialic Acid World.Advances in carbohydrate chemistry and biochemistry · 2018Review
- Identification of anMolecular genetics & genomic medicine · 2017Article
- Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5'UTR and founder allele.Journal of human genetics · 2017Article
- GNE myopathy: current update and future therapy.Journal of neurology, neurosurgery, and psychiatry · 2015Review
- Mutation update for GNE gene variants associated with GNE myopathy.Human mutation · 2014Review
- GNE myopathy: new name and new mutation nomenclature.Neuromuscular disorders : NMD · 2014Article
- Non-specific accumulation of glycosphingolipids in GNE myopathy.Journal of inherited metabolic disease · 2014Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
Abstract
UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) catalyzes the first two committed steps in sialic acid synthesis. In addition to the three previously described human GNE isoforms (hGNE1-hGNE3), our database and polymerase chain reaction analysis yielded five additional human isoforms (hGNE4-hGNE8). hGNE1 is the ubiquitously expressed major isoform, while the hGNE2-hGNE8 isoforms are differentially expressed and may act as tissue-specific regulators of sialylation. hGNE2 and hGNE7 display a 31-residue N-terminal extension compared to hGNE1. On the basis of similarities to kinases and helicases, this extension does not seem to hinder the epimerase enzymatic active site. hGNE3 and hGNE8 contain a 55-residue N-terminal deletion and a 50-residue N-terminal extension compared to hGNE1. The size and secondary structures of these fragments are similar, and modeling predicted that these modifications do not affect the overall fold compared to that of hGNE1. However, the epimerase enzymatic activity of GNE3 and GNE8 is likely absent, because the deleted fragment contains important substrate binding residues in homologous bacterial epimerases. hGNE5-hGNE8 have a 53-residue deletion, which was assigned a role in substrate (UDP-GlcNAc) binding. Deletion of this fragment likely eliminates epimerase enzymatic activity. Our findings imply that GNE is subject to evolutionary mechanisms to improve cellular functions, without increasing the number of genes. Our expression and modeling data contribute to elucidation of the complex functional and regulatory mechanisms of human GNE and may contribute to further elucidating the pathology and treatment strategies of the human GNE-opathies sialuria and hereditary inclusion body myopathy.
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