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While no differences in clinical characteristics were detected in patients possessing the functional promoter haplotypes of ST3GAL5, exophthalmic values were significantly lower in patients with the ST8SIA1 haplotype, which showed a significant increase in promoter activity
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These cases broaden the phenotypic and genetic spectrum of GM3 synthase deficiency due to ST3GAL5 variants. Patients with intellectual disability or furthermore presenting with Rett-like phenotype should be suspected of GM3 synthase deficiency, a disorder of ganglioside biosynthesis.
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Data suggest that ganglioside glycosyltransferases ST3GAL5, ST8SIA1, and B4GALNT1 are S-acylated at conserved cysteine residues located close to cytoplasmic border of their transmembrane domains; ST3Gal-II is acylated at conserved cysteine residue in N-terminal cytoplasmic tail; for B4GALNT1 and ST3Gal-II, dimer formation controls their S-acylation status.
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Studied the miRNA expression in human hepatocellular carcinoma cell lines; 13 differentially expressed miRNAs were identified between MHCC97-H and MHCC97-L cells; and the same results were found in clinical samples. Found that ST3GAL5 was the direct target of miR-26a, miR-548l and miR-34a.
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Serum deprivation triggers upregulation of hST3Gal V gene expression through Runx2 activation by BMP signaling in MG-63 cells.
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this study indicated that sialylation involved in the development of MDR of AML cells probably through ST3GAL5 or ST8SIA4 regulating the activity of PI3K/Akt signaling and the expression of P-gp and MRP1.
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Whole-exome sequencing of patients with salt and pepper syndrome shows a homozygous c.994G>A transition (p.E332K) in the ST3GAL5 gene.
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GM3 synthase deficiency, responsible for early-onset epilepsy syndrome, leads to a secondary respiratory chain dysfunction.
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Data demonstrate that valproic acid (VPA) transcriptionally regulates human GM3 synthase (hST3Gal V), which catalyzes ganglioside GM3 biosynthesis in ARPE-19 human retinal pigment epithelial cells.
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GM3 exhibits the potential to regulate the allosteric structural transition from inactive to a signaling EGFR dimer, by preventing the autophosphorylation of the intracellular kinase domain in response to ligand binding
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In vivo expression of the transcript gives rise to two human ST3Gal-V isoforms with distinct characteristics.
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ST6Gal I and ST3Gal V were positively correlated with the high risk of pediatric acute leukemia.
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GM3 synthase overexpression results in reduced cell motility and in caveolin-1 upregulation in human ovarian carcinoma cells
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GM3 synthase mRNA levels were significantly higher in differentiated human monocyte-derived macrophages compared to monocytes and in atherosclerotic aorta compared to normal aorta
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isolation and characterization of the promoter region
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enhanced expression of GM3 synthase through protein kinase C /extracellular regulated kinases-dependent cAMP-responsive element binding protein activation by phorbol 12-myristate 13-acetate is associated with the differentiation of HL-60 cells
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). We sequenced genes in the region and identified a nonsense mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme (also called lactosylceramide alpha-2,3 sialyltransferase).
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These results are the first demonstration of the existence of a new isoform of human GM3 synthase, which could play an important role during HL60 cell differentiation.
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GM3 synthase point mutation almost completely depletes human fibroblast cellular gangliosides, dampens membrane EGFR activation, and modulates related critical cell functions such as proliferation and migration
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Ganglioside GM3 inhibits VEGF/VEGFR-2-mediated angiogenesis. Direct interaction of GM3 with VEGFR-2 is reported.
