EC Number |
General Information |
Reference |
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2.4.1.80 | malfunction |
enzyme inhibitors affect the expression of lactosylceramide, neolacto, ganglio, and globo series glycosphingolipids in a panel of human cancer cell lines. Their cell-surface glycosphingolipid expression considerably varies among cell lines and sublethal concentrations (IC10) of both inhibitors preferentially and significantly reduce the expression of globo Gb3 glycosphingolipids in the cancer cell lines IGROV1, BG1, HT29 and T47D, whereas globo SSEA3 glycosphingolipid expression is only reduced in BG1 cells. The neolacto and ganglio glycosphingolipid series is not affected. Lactosylceramider, the precursor of all GlcCer-related glycosphingolipids, is significantly reduced only in BG1 cells treated with DL-threo-1-phenyl-2-palmitoylamino-3-morpholino-1-propanol, overview |
736201 |
2.4.1.80 | malfunction |
genetically silencing the enzyme induces apoptosis with induced ceramide accumulation, accompanied by a decrease in glucosylceramide, and inhibits Bcl-xL function. Simultaneous GCS inhibition and VNR treatment causes a decrease in Bcl-xL expression. Pharmacologically inhibiting enzyme GCS induces ceramide accumulation in vinorelbine-treated A549 and AS2 cells |
736920 |
2.4.1.80 | malfunction |
In an analysis of microarray data of in a large cohort of 1681 breast tumors, there was a benefit for disease free survival for patients with tumors displaying low levels of GCS expression, especially in tumors with a positive estrogen receptor (ER) status. |
704776 |
2.4.1.80 | malfunction |
inhibiting UDP-glucose ceramide glycosyltransferase increases the susceptibility of p53-deficient cells, but not p53-expressing cells, to mitomycin C. Enzyme down-regulation contributes to the accumulation of ceramide in cells lacking p53 |
721726 |
2.4.1.80 | malfunction |
reduced enzyme expression in the fat body causes a reduction of fat storage |
722902 |
2.4.1.80 | malfunction |
silencing glucosylceramide synthase expression disrupts Gb3 synthesis and selectively kills breast cancer stem cells through deactivation of c-Src/beta-catenin signaling |
722787 |
2.4.1.80 | malfunction |
substrate reduction therapy by selectively inhibiting glucosylceramide synthase is used in treatment of Fabry disease, an X-linked inherited glycosphingolipid storage disorder, that is caused by the deficient activity of alpha-galactosidase A, which results in the lysosomal accumulation in various cell types of its glycolipid substrates, including globotriaosylceramide and lysoglobotriaosylceramide (globotriaosyl lysosphingolipid), leading to kidney, heart, and cerebrovascular disease. Kidneys of both Fabry and wild-type mice treated with enzyme inhibitor GCS Genz-682452 show reductions of galactosylceramide (about 85%) and digalactosylceramide (about 60%), a combination therapy with Genz-682452 and alpha-galactosidase A is more efficacious than either therapy alone at reducing glycosphingolipid levels in Fabry mice, phenotype, overview |
-, 736820 |
2.4.1.80 | malfunction |
when each gene function is disrupted, the brood size of the animal markedly decreases and abnormal oocytes and multinucleated embryos are formed. Knockdown of the germline expression of gene cgt-3 results in abnormal oocyte formation and abnormal embryonic cell division |
722356 |
2.4.1.80 | metabolism |
glucosylceramide synthase catalyzes the first committed step in the biosynthesis of glucosylceramide-related glycosphingolipids, pathway overview |
736201 |
2.4.1.80 | metabolism |
key enzyme for the synthesis of glycosphingolipids which plays a role in physiology and diseases for instance in drug-resistant cancers |
705012 |