Disease on EC 2.4.1.228 - lactosylceramide 4-alpha-galactosyltransferase

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DISEASE
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(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency
Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting.
Acute Kidney Injury
Inhibiting glucosylceramide synthase exacerbates cisplatin-induced acute kidney injury.
Lose the lipid: renoprotection conferred by Gb3 synthase knockout.
Adenocarcinoma of Lung
An increase in glucosylceramide synthase induces Bcl-xL-mediated cell survival in vinorelbine-resistant lung adenocarcinoma cells.
Inhibiting glucosylceramide synthase facilitates the radiosensitizing effects of vinorelbine in lung adenocarcinoma cells.
Alzheimer Disease
PS dependent APP cleavage regulates glucosylceramide synthase and is affected in Alzheimer's disease.
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase.
Bone Diseases
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies.
Brain Ischemia
Glucosylceramide synthase activity and ceramide levels are modulated during cerebral ischemia after ischemic preconditioning.
Breast Neoplasms
Altered methylation of glucosylceramide synthase promoter regulates its expression and associates with acquired multidrug resistance in invasive ductal breast cancer.
Ceramide Glycosylation by Glucosylceramide Synthase Selectively Maintains the Properties of Breast Cancer Stem Cells.
Co-suppression of MDR1 (multidrug resistance 1) and GCS (glucosylceramide synthase) restores sensitivity to multidrug resistance breast cancer cells by RNA interference (RNAi).
Doxorubicin influences the expression of glucosylceramide synthase in invasive ductal breast cancer.
Evaluation of anticancer agents using flow cytometry analysis of cancer stem cells.
Expression of glucosylceramide synthase in invasive ductal breast cancer may be correlated with high estrogen receptor status and low HER-2 status.
Expression of glucosylceramide synthase, converting ceramide to glucosylceramide, confers adriamycin resistance in human breast cancer cells.
Glucosylceramide synthase blockade down-regulates P-glycoprotein and resensitizes multidrug-resistant breast cancer cells to anticancer drugs.
Glucosylceramide synthase, a factor in modulating drug resistance, is overexpressed in metastatic breast carcinoma.
Lactoferricin-induced apoptosis in estrogen-nonresponsive MDA-MB-435 breast cancer cells is enhanced by C6 ceramide or tamoxifen.
MDR1 (multidrug resistence 1) can regulate GCS (glucosylceramide synthase) in breast cancer cells.
Oligonucleotides blocking glucosylceramide synthase expression selectively reverse drug resistance in cancer cells.
Overexpression of glucosylceramide synthase and P-glycoprotein in cancer cells selected for resistance to natural product chemotherapy.
P-glycoprotein modulates ceramide-mediated sensitivity of human breast cancer cells to tubulin-binding anticancer drugs.
Prognostic relevance of glucosylceramide synthase (GCS) expression in breast cancer.
Suppression of glucosylceramide synthase by RNA interference reverses multidrug resistance in human breast cancer cells.
Targeting glucosylceramide synthase downregulates expression of the multidrug resistance gene MDR1 and sensitizes breast carcinoma cells to anticancer drugs.
The opposite effects of doxorubicin on bone marrow stem cells versus breast cancer stem cells depend on glucosylceramide synthase.
The roles of antiapoptotic sphingosine kinase-1 and glucosylceramide genes in drug induced cell death of MCF-7 breast cancer cells.
[Construction of glucosylceramide synthase-specific siRNA expression vector and its efficiency in reversal of drug resistance in breast carcinoma cells]
[Effects of artificial microRNA targeting glucosylceramide synthase on drug sensitivity of breast cancer cells].
[Investigation on the relationship between multidrug resistance and expression of glucosylceramide synthase in human breast carcinoma cells]
Carcinoma
Inhibition of experimental metastasis of murine Lewis lung carcinoma by an inhibitor of glucosylceramide synthase and its possible mechanism of action.
Carcinoma, Hepatocellular
Differential chemosensitizing effect of two glucosylceramide synthase inhibitors in hepatoma cells.
Glucosylceramide synthase inhibitors D-PDMP and D-EtDO-P4 decrease the GM3 ganglioside level, differ in their effects on insulin receptor autophosphorylation but increase Akt1 kinase phosphorylation in human hepatoma HepG2 cells.
Targeting glucosylceramide synthase upregulation reverts sorafenib resistance in experimental hepatocellular carcinoma.
Carcinoma, Lewis Lung
Inhibition of experimental metastasis of murine Lewis lung carcinoma by an inhibitor of glucosylceramide synthase and its possible mechanism of action.
Carcinoma, Non-Small-Cell Lung
Overexpression of glucosylceramide synthase and its significance in the clinical outcome of non-small cell lung cancer.
Carcinoma, Renal Cell
Immunization of A4galt-deficient mice with glycosphingolipids from renal cell cancers resulted in the generation of anti-sulfoglycolipid monoclonal antibodies.
Carcinoma, Squamous Cell
Overexpression of glucosylceramide synthase and P-glycoprotein in cancer cells selected for resistance to natural product chemotherapy.
Cataplexy
Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.
Cholera
Transition of mesenchymal and epithelial cancer cells depends on ?1-4 galactosyltransferase-mediated glycosphingolipids.
Colonic Neoplasms
Inhibition of glucosylceramide synthase eliminates the oncogenic function of p53 R273H mutant in the epithelial-mesenchymal transition and induced pluripotency of colon cancer cells.
Colorectal Neoplasms
Expression and significance of glucosylceramide synthase in colorectal carcinoma tissues.
Cysts
Emerging targeted strategies for the treatment of autosomal dominant polycystic kidney disease.
Diabetes Mellitus
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
Diabetes Mellitus, Type 2
Assessment of partially deoxygenated deoxynojirimycin derivatives as glucosylceramide synthase inhibitors.
Identification of potent and selective glucosylceramide synthase inhibitors from a library of N-alkylated iminosugars.
Modulation of glycosphingolipid metabolism significantly improves hepatic insulin sensitivity and reverses hepatic steatosis in mice.
Reduction of glycosphingolipid biosynthesis stimulates biliary lipid secretion in mice.
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
Fabry Disease
Efficacy of Enzyme and Substrate Reduction Therapy with a Novel Antagonist of Glucosylceramide Synthase for Fabry Disease.
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
Glycosphingolipid depletion in fabry disease lymphoblasts with potent inhibitors of glucosylceramide synthase.
Lucerastat, an Iminosugar for Substrate Reduction Therapy: Pharmacokinetics, Tolerability, and Safety in Subjects With Mild, Moderate, and Severe Renal Function Impairment.
Lucerastat, an Iminosugar for Substrate Reduction Therapy: Tolerability, Pharmacodynamics, and Pharmacokinetics in Patients With Fabry Disease on Enzyme Replacement.
Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects.
Reduction of globotriaosylceramide in Fabry disease mice by substrate deprivation.
Fatty Liver
Inhibition of glycosphingolipid synthesis induces a profound reduction of plasma cholesterol and inhibits atherosclerosis development in APOE*3 Leiden and low-density lipoprotein receptor-/- mice.
Sphingolipids and hepatic steatosis.
Gaucher Disease
A Phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.
A specific and potent inhibitor of glucosylceramide synthase for substrate inhibition therapy of Gaucher disease.
Assessment of partially deoxygenated deoxynojirimycin derivatives as glucosylceramide synthase inhibitors.
Carcinogenicity testing of eliglustat in mice and rats.
Characterization of Variants in the Glucosylceramide Synthase Gene and their Association with Type 1 Gaucher Disease Severity.
CNS-accessible Inhibitor of Glucosylceramide Synthase for Substrate Reduction Therapy of Neuronopathic Gaucher Disease.
Development of adamantan-1-yl-methoxy-functionalized 1-deoxynojirimycin derivatives as selective inhibitors of glucosylceramide metabolism in man.
Differential effects of glycolipid biosynthesis inhibitors on ceramide-induced cell death in neuroblastoma cells.
ELIGLUSTAT TARTRATE: Glucosylceramide Synthase Inhibitor Treatment of Type 1 Gaucher Disease.
Eliglustat: first global approval.
Lucerastat, an iminosugar with potential as substrate reduction therapy for glycolipid storage disorders: safety, tolerability, and pharmacokinetics in healthy subjects.
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.
Miglustat as a therapeutic agent: prospects and caveats.
Polymorphisms in glucosylceramide (glucocerebroside) synthase and the Gaucher disease phenotype.
Property-based design of a glucosylceramide synthase inhibitor that reduces glucosylceramide in the brain.
Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project.
RNAi-mediated inhibition of the glucosylceramide synthase (GCS) gene: A preliminary study towards a therapeutic strategy for Gaucher disease and other glycosphingolipid storage diseases.
Safety, Tolerability, and Pharmacokinetics of Eliglustat Tartrate (Genz-112638) After Single Doses, Multiple Doses, and Food in Healthy Volunteers.
Short-term effect of miglustat in every day clinical use in treatment-naïve or previously treated patients with type 1 Gaucher's disease.
Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.
Substrate reduction therapy with miglustat for type 1 Gaucher disease: A retrospective analysis from a single institution.
Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.
The pharmacokinetics and tissue distribution of the glucosylceramide synthase inhibitor miglustat in the rat.
Treatment of cataplexy in Niemann-Pick disease type C with the use of miglustat.
Treatment of Niemann-Pick disease type C in two children with miglustat: initial responses and maintenance of effects over 1 year.
Glioblastoma
Glucosylceramide synthase protects glioblastoma cells against autophagic and apoptotic death induced by temozolomide and Paclitaxel.
Glucosylceramide synthase silencing combined with the receptor tyrosine kinase inhibitor axitinib as a new multimodal strategy for glioblastoma.
Glioma
Differential effects of glycolipid biosynthesis inhibitors on ceramide-induced cell death in neuroblastoma cells.
Head and Neck Neoplasms
Inhibition of Glucosylceramide Synthase Sensitizes Head and Neck Cancer to Cisplatin.
Hyperglycemia
Kidney glycosphingolipids are elevated early in diabetic nephropathy and mediate hypertrophy of mesangial cells.
Infarction, Middle Cerebral Artery
Glucosylceramide synthase activity and ceramide levels are modulated during cerebral ischemia after ischemic preconditioning.
Infections
Glycosphingolipids promote entry of a broad range of human immunodeficiency virus type 1 isolates into cell lines expressing CD4, CXCR4, and/or CCR5.
Surface localization of glucosylceramide during Cryptococcus neoformans infection allows targeting as a potential antifungal.
Infertility, Male
Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting.
Insulin Resistance
Modulation of glycosphingolipid metabolism significantly improves hepatic insulin sensitivity and reverses hepatic steatosis in mice.
Pharmacological inhibition of glucosylceramide synthase enhances insulin sensitivity.
Reduction of glycosphingolipid biosynthesis stimulates biliary lipid secretion in mice.
The glucosylceramide synthase inhibitor N-(5-adamantane-1-yl-methoxy-pentyl)-deoxynojirimycin induces sterol regulatory element-binding protein-regulated gene expression and cholesterol synthesis in HepG2 cells.
Kidney Diseases, Cystic
Abnormalities of glycosphingolipid, sulfatide, and ceramide in the polycystic (cpk/cpk) mouse.
lactosylceramide 4-alpha-galactosyltransferase deficiency
1-O-Acylceramides are natural components of human and mouse epidermis.
Leukemia
Arsenic trioxide induces accumulation of cytotoxic levels of ceramide in acute promyelocytic leukemia and adult T-cell leukemia/lymphoma cells through de novo ceramide synthesis and inhibition of glucosylceramide synthase activity.
Effect of D, L-threo-1-phenyl-2-decanoylamino-3-morpholino-1-propanol and tetrandrine on the reversion of multidrug resistance in K562/A02 cells.
Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins.
Fludarabine-resistance associates with ceramide metabolism and leukemia stem cell development in chronic lymphocytic leukemia.
GCS induces multidrug resistance by regulating apoptosis-related genes in K562/AO2 cell line.
Glucosylceramide synthase inhibition enhances vincristine-induced cytotoxicity.
Glucosylceramide synthase promotes Bcl-2 expression via the ERK signaling pathway in the K562/A02 leukemia drug-resistant cell line.
Inhibition of ceramide metabolism sensitizes human leukemia cells to inhibition of BCL2-like proteins.
Overexpression of glucosylceramide synthase in associated with multidrug resistance of leukemia cells.
Possible role of ceramide as an indicator of chemoresistance: decrease of the ceramide content via activation of glucosylceramide synthase and sphingomyelin synthase in chemoresistant leukemia.
Targeting glucosylceramide synthase synergizes with C(6)-ceramide nanoliposomes to induce apoptosis in natural killer cell leukemia.
The effect of glucosylceramide synthase on P-glycoprotein function in K562/AO2 leukemia drug-resistance cell line.
[Effect of glucosylceramide synthase on P-gp expression by ERK signal transduction pathway in leukemia multi-drug resistance cell line].
[Effect of PDMP, a glucosylceramide synthase inhibitor, on reversion of daunorubicin resistance in human leukemia cell line K562/A02]
[NF-? B mediates the effect of glucosylceramide synthase on P-glycoprotein modulation in a drug-resistance leukemia cell line].
[Relation between glucosylceramide synthase and multidrug resistance in leukemia cells]
[Study on the correlation of GCS and MDR1 genes in inducing multidrug resistance in human K562/A02 cell line]
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
Glucosylceramide synthase inhibitor PDMP sensitizes chronic myeloid leukemia T315I mutant to Bcr-Abl inhibitor and cooperatively induces glycogen synthase kinase-3-regulated apoptosis.
Targeting glucosylceramide synthase sensitizes imatinib-resistant chronic myeloid leukemia cells via endogenous ceramide accumulation.
Leukemia, Myeloid, Acute
P-glycoprotein is implicated in the inhibition of ceramide-induced apoptosis in TF-1 acute myeloid leukemia cells by modulation of the glucosylceramide synthase pathway.
Leukemia, Promyelocytic, Acute
Arsenic trioxide induces accumulation of cytotoxic levels of ceramide in acute promyelocytic leukemia and adult T-cell leukemia/lymphoma cells through de novo ceramide synthesis and inhibition of glucosylceramide synthase activity.
Lung Neoplasms
Overexpression of glucosylceramide synthase and its significance in the clinical outcome of non-small cell lung cancer.
Targeting glucosylceramide synthase induction of cell surface globotriaosylceramide (Gb3) in acquired cisplatin-resistance of lung cancer and malignant pleural mesothelioma cells.
Lymphoma, B-Cell
Mechanism of the reversal effect of mifepristone on drug resistance of the human cervical cancer cell line HeLa/MMC.
Lysosomal Storage Diseases
Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.
Medulloblastoma
Synthesis, shedding, and intercellular transfer of human medulloblastoma gangliosides: abrogation by a new inhibitor of glucosylceramide synthase.
Melanoma
Influence of cellular ganglioside depletion on tumor formation.
Inhibition of melanoma tumor growth by a novel inhibitor of glucosylceramide synthase.
The absence of functional glucosylceramide synthase does not sensitize melanoma cells for anticancer drugs.
Transfection of glucosylceramide synthase antisense inhibits mouse melanoma formation.
Mesothelioma
Targeting glucosylceramide synthase induction of cell surface globotriaosylceramide (Gb3) in acquired cisplatin-resistance of lung cancer and malignant pleural mesothelioma cells.
Neoplasm Metastasis
Inhibition of experimental metastasis of murine Lewis lung carcinoma by an inhibitor of glucosylceramide synthase and its possible mechanism of action.
Neoplasms
3-Ketone-4,6-diene ceramide analogs exclusively induce apoptosis in chemo-resistant cancer cells.
A new mixed-backbone oligonucleotide against glucosylceramide synthase Sensitizes multidrug-resistant tumors to apoptosis.
Alteration of Ceramide 1-O-Functionalization as a Promising Approach for Cancer Therapy.
Altered methylation of glucosylceramide synthase promoter regulates its expression and associates with acquired multidrug resistance in invasive ductal breast cancer.
Ceramide glycosylation catalyzed by glucosylceramide synthase and cancer drug resistance.
Ceramide mediates tumor-induced dendritic cell apoptosis.
Ceramide synthesis and metabolism as a target for cancer therapy.
Colony-stimulating factor-1 antibody reverses chemoresistance in human mcf-7 breast cancer xenografts.
Cytoprotective effect of glucosylceramide synthase inhibition against daunorubicin-induced apoptosis in human leukemic cell lines.
Degradation of NF-kappa B in T cells by gangliosides expressed on renal cell carcinomas.
Differential influence of the tumour-specific non-human sialic acid containing GM3 ganglioside on CD4+CD25- effector and naturally occurring CD4+CD25+ regulatory T cells function.
Expression of glucosylceramide synthase in invasive ductal breast cancer may be correlated with high estrogen receptor status and low HER-2 status.
Expression of the Gb3/CD77 synthase gene in megakaryoblastic leukemia cells: implication in the sensitivity to verotoxins.
Glucose availability and glycolytic metabolism dictate glycosphingolipid levels.
Glucosylceramidases and malignancies in mammals.
Glucosylceramide synthase blockade down-regulates P-glycoprotein and resensitizes multidrug-resistant breast cancer cells to anticancer drugs.
Glucosylceramide synthase promotes Bcl-2 expression via the ERK signaling pathway in the K562/A02 leukemia drug-resistant cell line.
Glucosylceramide synthase upregulates MDR1 expression in the regulation of cancer drug resistance through cSrc and beta-catenin signaling.
Glucosylceramide synthase, a factor in modulating drug resistance, is overexpressed in metastatic breast carcinoma.
Glycolipid composition in bladder tumor: a crucial role of GM3 ganglioside in tumor invasion.
Immunization of A4galt-deficient mice with glycosphingolipids from renal cell cancers resulted in the generation of anti-sulfoglycolipid monoclonal antibodies.
Inhibition of experimental metastasis of murine Lewis lung carcinoma by an inhibitor of glucosylceramide synthase and its possible mechanism of action.
Inhibition of glucosylceramide synthase does not reverse drug resistance in cancer cells.
Inhibition of glucosylceramide synthase eliminates the oncogenic function of p53 R273H mutant in the epithelial-mesenchymal transition and induced pluripotency of colon cancer cells.
Inhibition of Glucosylceramide Synthase Sensitizes Head and Neck Cancer to Cisplatin.
Inhibition of melanoma tumor growth by a novel inhibitor of glucosylceramide synthase.
Modulation of ceramide metabolism in T-leukemia cell lines potentiates apoptosis induced by the cationic antimicrobial peptide bovine lactoferricin.
Modulation of intracellular ceramide using polymeric nanoparticles to overcome multidrug resistance in cancer.
New Insights on Glucosylceramide Synthase in Cancer Drug Resistance and Myelosuppression.
Novel mechanisms of action of classical chemotherapeutic agents on sphingolipid pathways.
Oligonucleotides blocking glucosylceramide synthase expression selectively reverse drug resistance in cancer cells.
Overexpression of glucosylceramide synthase and its significance in the clinical outcome of non-small cell lung cancer.
Overexpression of glucosylceramide synthase and P-glycoprotein in cancer cells selected for resistance to natural product chemotherapy.
PDMP sensitizes neuroblastoma to paclitaxel by inducing aberrant cell cycle progression leading to hyperploidy.
Prognostic value of glucosylceramide synthase and P-glycoprotein expression in oral cavity cancer.
Rationales for cancer chemotherapy with PDMP, a specific inhibitor of glucosylceramide synthase.
Re-configuration of sphingolipid metabolism by oncogenic transformation.
Sphingolipid metabolism enzymes as targets for anticancer therapy.
Sphingolipids and response to chemotherapy.
Structural and stereochemical studies of potent inhibitors of glucosylceramide synthase and tumor cell growth.
Suppression of glucosylceramide synthase by RNA interference reverses multidrug resistance in human breast cancer cells.
Suppression of Glucosylceramide Synthase Restores p53-Dependent Apoptosis in Mutant p53 Cancer Cells.
Targeting ceramide synthase 6-dependent metastasis-prone phenotype in lung cancer cells.
Targeting glucosylceramide synthase induction of cell surface globotriaosylceramide (Gb3) in acquired cisplatin-resistance of lung cancer and malignant pleural mesothelioma cells.
Therapeutic potential of targeting ceramide/glucosylceramide pathway in cancer.
Transfection of glucosylceramide synthase antisense inhibits mouse melanoma formation.
Updates on functions of ceramide in chemotherapy-induced cell death and in multidrug resistance.
Use of a glycolipid inhibitor to ameliorate renal cancer in a mouse model.
[Expression of glucosylceramide synthase mRNA in vincristine-resistant KBV200 cell line in association with multidrug resistance]
Neuroblastoma
Differential effects of glycolipid biosynthesis inhibitors on ceramide-induced cell death in neuroblastoma cells.
Effects of an inhibitor of glucosylceramide synthase on glycosphingolipid synthesis and neurite outgrowth in murine neuroblastoma cell lines.
Gangliosides link the acidic sphingomyelinase-mediated induction of ceramide to 12-lipoxygenase-dependent apoptosis of neuroblastoma in response to fenretinide.
[Effect of endogeneous gangliosides on integrin alpha2beta1-mediated adhesion of neuroblastoma cells to collagen]
Neurologic Manifestations
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
Niemann-Pick Diseases
Cholesterol-dependent increases in glucosylceramide synthase activity in Niemann-Pick disease type C model cells: Abnormal trafficking of endogenously formed ceramide metabolites by inhibition of the enzyme.
Impact of miglustat on evolution of atypical presentation of late-infantile-onset Niemann-Pick disease type C with early cognitive impairment, behavioral dysfunction, epilepsy, ophthalmoplegia, and cerebellar involvement: a case report.
Osteosarcoma
Glycosphingolipids promote entry of a broad range of human immunodeficiency virus type 1 isolates into cell lines expressing CD4, CXCR4, and/or CCR5.
Ovarian Neoplasms
[Mifepristone modulates glucosylceramide synthase expression and reverse multidrug resistance in ovarian cancer cells.]
Pancreatic Neoplasms
The glucosylceramide synthase inhibitor PDMP sensitizes pancreatic cancer cells to MEK/ERK inhibitor AZD-6244.
Polycystic Kidney Diseases
The design and clinical development of inhibitors of glycosphingolipid synthesis: will invention be the mother of necessity?
Sandhoff Disease
Iminosugar-based inhibitors of glucosylceramide synthase increase brain glycosphingolipids and survival in a mouse model of Sandhoff disease.
Substrate Reduction Therapy for Sandhoff Disease through Inhibition of Glucosylceramide Synthase Activity.
Stomach Ulcer
Attenuation of Acetic Acid-Induced Gastric Ulcer Formation in Rats by Glucosylceramide Synthase Inhibitors.
Synucleinopathies
Glucosylceramide synthase inhibition alleviates aberrations in synucleinopathy models.
Teratocarcinoma
A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.
Thyroid Cancer, Papillary
Upregulation of glucosylceramide synthase protein in papillary thyroid carcinoma.
Urinary Bladder Neoplasms
Up-regulation of glucosylceramide synthase in urinary bladder neoplasms.
Uterine Cervical Neoplasms
Resistance to the antiproliferative effect induced by a short-chain ceramide is associated with an increase of glucosylceramide synthase, P-glycoprotein, and multidrug-resistance gene-1 in cervical cancer cells.