Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 2.4.1.92 - (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
(n-acetylneuraminyl)-galactosylglucosylceramide n-acetylgalactosaminyltransferase deficiency
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency.
Early growth and development impairment in patients with ganglioside GM3 synthase deficiency.
Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting.
Etiology of vision loss in ganglioside GM3 synthase deficiency.
Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype.
Oral Ganglioside Supplement Improves Growth and Development in Patients with Ganglioside GM3 Synthase Deficiency.
Quantification of monosialogangliosides in human plasma through chemical derivatization for signal enhancement in LC-ESI-MS.
Recessive GM3 synthase deficiency: Natural history, biochemistry, and therapeutic frontier.
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.
Adenocarcinoma
Mucin glycosylating enzyme GALNT2 suppresses malignancy in gastric adenocarcinoma by reducing MET phosphorylation.
Atherosclerosis
[Activation of ganglioside GM3 biosynthesis in human blood mononuclear cells in atherosclerosis].
Breast Neoplasms
Endothelial ganglioside GM3 regulates angiogenesis in solid tumors.
Interaction of glycosphingolipids GD3 and GD2 with growth factor receptors maintains breast cancer stem cell phenotype.
Silencing of GM3 synthase suppresses lung metastasis of murine breast cancer cells.
Carcinoma
A glycosphingolipid/caveolin-1 signaling complex inhibits motility of human ovarian carcinoma cells.
Analysis of GD2/GM2 synthase mRNA as a biomarker for small cell lung cancer.
Curcumin Downregulates Human GM3 Synthase (hST3Gal V) Gene Expression with Autophagy Induction in Human Colon Carcinoma HCT116 Cells.
Endogenously produced ganglioside GM3 endows etoposide and doxorubicin resistance by up-regulating Bcl-2 expression in 3LL Lewis lung carcinoma cells.
GM3 synthase overexpression results in reduced cell motility and in caveolin-1 up-regulation in human ovarian carcinoma cells.
Sialylation and sulfation of lactosylceramide distinctly regulate anchorage-independent growth, apoptosis, and gene expression in 3LL Lewis lung carcinoma cells.
Carcinoma, Hepatocellular
beta 1-4N-acetylgalactosaminyltransferase can synthesize both asialoglycosphingolipid GM2 and glycosphingolipid GM2 in vitro and in vivo: isolation and characterization of a beta 1-4N-acetylgalactosaminyltransferase cDNA clone from rat ascites hepatoma cell line AH7974F.
Carcinoma, Lewis Lung
Endogenously produced ganglioside GM3 endows etoposide and doxorubicin resistance by up-regulating Bcl-2 expression in 3LL Lewis lung carcinoma cells.
Sialylation and sulfation of lactosylceramide distinctly regulate anchorage-independent growth, apoptosis, and gene expression in 3LL Lewis lung carcinoma cells.
Carcinoma, Non-Small-Cell Lung
GM3 synthase gene is a novel biomarker for histological classification and drug sensitivity against epidermal growth factor receptor tyrosine kinase inhibitors in non-small cell lung cancer.
Carcinoma, Squamous Cell
Induction of GM3 expression by valproic acid suppresses cancer cell growth.
Congenital Disorders of Glycosylation
Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Diseases of ganglioside biosynthesis: An expanding group of congenital disorders of glycosylation.
Total loss of GM3 synthase activity by a normally processed enzyme in a novel variant and in all ST3GAL5 variants reported to cause a distinct congenital disorder of glycosylation.
Deafness
Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells.
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.
Demyelinating Diseases
Inhibition of GM3 Synthase Attenuates Neuropathology of Niemann-Pick Disease Type C by Affecting Sphingolipid Metabolism.
Diabetic Foot
Ganglioside GM3 Depletion Reverses Impaired Wound Healing in Diabetic Mice by Activating IGF-1 and Insulin Receptors.
Drug Resistant Epilepsy
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
Encephalomyelitis
Roles of complex gangliosides in the development of experimental autoimmune encephalomyelitis.
Encephalomyelitis, Autoimmune, Experimental
Roles of complex gangliosides in the development of experimental autoimmune encephalomyelitis.
Epilepsy
Genetic diseases of sphingolipid metabolism: pathological mechanisms and therapeutic options.
[Advances in the studies on the molecular and genetic aspects of epilepsy]
Epileptic Syndromes
Ganglioside depletion and EGF responses of human GM3 synthase-deficient fibroblasts.
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.
Refractory epilepsy and mitochondrial dysfunction due to GM3 synthase deficiency.
Fatty Liver
Limited Therapeutic Effect of N-Acetylcysteine on Hepatic Insulin Resistance in an Experimental Model of Alcohol-Induced Steatohepatitis.
Gastrointestinal Neoplasms
Decreased expression of alpha2,8 sialyltransferase and increased expression of beta1,4 N-acetylgalactosaminyltransferase in gastrointestinal cancers.
Enhanced expression of GM2/GD2 synthase mRNA in human gastrointestinal cancer.
Genetic Diseases, Inborn
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report.
Herpes Simplex
N-acetylgalactosaminyltransferase activity involved in O-glycosylation of herpes simplex virus type 1 glycoproteins.
Infertility, Male
Essential roles of carbohydrate signals in development, immune response and tissue functions, as revealed by gene targeting.
Insulin Resistance
Assay Development and Screening for the Identification of Ganglioside GM3 Synthase Inhibitors.
Deficient ganglioside synthesis restores responsiveness to leptin and melanocortin signaling in obese KKAy mice.
Ganglioside GM3 participates in the pathological conditions of insulin resistance.
Intellectual Disability
ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.
Leukemia
Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units.
Involvement of CREB in the transcriptional regulation of the human GM3 synthase (hST3Gal V) gene during megakaryocytoid differentiation of human leukemia K562 cells.
Lactosylceramide alpha2,3-sialyltransferase is induced via a PKC/ERK/CREB-dependent pathway in K562 human leukemia cells.
Molecular mechanism for transcriptional activation of ganglioside GM3 synthase and its function in differentiation of HL-60 cells.
Regulation of glycolipid synthesis in HL-60 cells by antisense oligodeoxynucleotides to glycosyltransferase sequences: effect on cellular differentiation.
Leukemia, T-Cell
Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units.
Lung Neoplasms
Analysis of GD2/GM2 synthase mRNA as a biomarker for small cell lung cancer.
GM3 synthase gene is a novel biomarker for histological classification and drug sensitivity against epidermal growth factor receptor tyrosine kinase inhibitors in non-small cell lung cancer.
Suppression of lung metastasis of mouse Lewis lung cancer P29 with transfection of the ganglioside GM2/GD2 synthase gene.
Malnutrition
Undernutrition changes GD3 and GM2 synthase activities in developing rat hypothalamus.
Medulloblastoma
[Stable transfection of DAOY cells with a GM3 synthase antisense construct and transient reduction in ganglioside content]
Melanoma
Alteration of tumor phenotypes of B16 melanoma after genetic remodeling of the ganglioside profile.
Deficiency of ganglioside biosynthesis in metastatic human melanoma cells: relevance of CMP-NeuAc:LacCer alpha 2-3 sialyltransferase (GM3 synthase).
Expression cloning of rat cDNA encoding UDP-galactose:GD2 beta1,3-galactosyltransferase that determines the expression of GD1b/GM1/GA1.
Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units.
Tumor hypoxia regulates ganglioside GM3 synthase, which contributes to oxidative stress resistance in malignant melanoma.
UVB-irradiated keratinocytes induce melanoma-associated ganglioside GD3 synthase gene in melanocytes via secretion of tumor necrosis factor ? and interleukin 6.
Melanoma, Experimental
Isolation of GD3 synthase gene by expression cloning of GM3 alpha-2,8-sialyltransferase cDNA using anti-GD2 monoclonal antibody.
Neoplasm Metastasis
Comparative study of sialidase activity and G(M3) content in B16 melanoma variants with different metastatic potential.
Silencing of GM3 synthase suppresses lung metastasis of murine breast cancer cells.
Suppression of lung metastasis of mouse Lewis lung cancer P29 with transfection of the ganglioside GM2/GD2 synthase gene.
Neoplasm, Residual
Quantitation of marrow disease in neuroblastoma by real-time reverse transcription-PCR.
Useful markers for detecting minimal residual disease in cases of neuroblastoma.
Neoplasms
A glycosphingolipid/caveolin-1 signaling complex inhibits motility of human ovarian carcinoma cells.
Analysis of GD2/GM2 synthase mRNA as a biomarker for small cell lung cancer.
Deficiency of ganglioside biosynthesis in metastatic human melanoma cells: relevance of CMP-NeuAc:LacCer alpha 2-3 sialyltransferase (GM3 synthase).
Diagnostic identification of malignant cells in the cerebrospinal fluid by tumor-specific qRT-PCR.
Elevated levels of select gangliosides in T cells from renal cell carcinoma patients is associated with T cell dysfunction.
Endogenously produced ganglioside GM3 endows etoposide and doxorubicin resistance by up-regulating Bcl-2 expression in 3LL Lewis lung carcinoma cells.
Ganglioside GM3 participates in the pathological conditions of insulin resistance.
GD2 synthase: a new molecular marker for detecting neuroblastoma.
Genetic and enzymatic basis for the differential expression of GM2 and GD2 gangliosides in human cancer cell lines.
Glycolipid composition in bladder tumor: a crucial role of GM3 ganglioside in tumor invasion.
GM3 synthase gene is a novel biomarker for histological classification and drug sensitivity against epidermal growth factor receptor tyrosine kinase inhibitors in non-small cell lung cancer.
Induction of GM3 expression by valproic acid suppresses cancer cell growth.
Introduction of Sd(a) carbohydrate antigen in gastrointestinal cancer cells eliminates selectin ligands and inhibits metastasis.
Isolation of GD3 synthase gene by expression cloning of GM3 alpha-2,8-sialyltransferase cDNA using anti-GD2 monoclonal antibody.
Measuring circulating neuroblastoma cells by quantitative reverse transcriptase-polymerase chain reaction analysis.
Optimization of molecular detection of GD2 synthase mRNA in retinoblastoma.
Preclinical platform of retinoblastoma xenografts recapitulating human disease and molecular markers of dissemination.
Quantitation of GD2 synthase mRNA by real-time reverse transcriptase polymerase chain reaction: clinical utility in evaluating adjuvant therapy in neuroblastoma.
Quantitation of GD2 synthase mRNA by real-time reverse transcription-polymerase chain reaction: utility in bone marrow purging of neuroblastoma by anti-GD2 antibody 3F8.
Quantitation of marrow disease in neuroblastoma by real-time reverse transcription-PCR.
Suppression of vascular smooth muscle cell responses induced by TNF-? in GM3 synthase gene transfected cells.
TALEN mediated targeted editing of GM2/GD2-synthase gene modulates anchorage independent growth by reducing anoikis resistance in mouse tumor cells.
TNF-alpha induction of GM2 expression on renal cell carcinomas promotes T cell dysfunction.
[Stable transfection of DAOY cells with a GM3 synthase antisense construct and transient reduction in ganglioside content]
Neuralgia
Ganglioside GM3 synthase depletion reverses neuropathic pain and small fiber neuropathy in diet-induced diabetic mice.
Neuroblastoma
Analysis of GD2/GM2 synthase mRNA as a biomarker for small cell lung cancer.
Changes in the ganglioside composition of human neuroblastoma cells under different growth conditions.
Diagnostic identification of malignant cells in the cerebrospinal fluid by tumor-specific qRT-PCR.
Early molecular response of marrow disease to biologic therapy is highly prognostic in neuroblastoma.
Effect of N-glycosylation on turnover and subcellular distribution of N-acetylgalactosaminyltransferase I and sialyltransferase II in neuroblastoma cells.
GD2 synthase: a new molecular marker for detecting neuroblastoma.
Genomic organization and chromosomal assignment of the human beta1, 4-N-acetylgalactosaminyltransferase gene. Identification of multiple transcription units.
Glycosylation pathways in the biosynthesis of gangliosides in melanoma and neuroblastoma cells: relative glycosyltransferase levels determine ganglioside patterns.
mRNAs of tyrosine hydroxylase and dopa decarboxylase but not of GD2 synthase are specific for neuroblastoma minimal disease and predicts outcome for children with high-risk disease when measured at diagnosis.
Optimization of molecular detection of GD2 synthase mRNA in retinoblastoma.
Peripheral blood stem cell tumor cell contamination and survival of neuroblastoma patients.
PHOX2B is a novel and specific marker for minimal residual disease testing in neuroblastoma.
Potential application of ELAVL4 real-time quantitative reverse transcription-PCR for detection of disseminated neuroblastoma cells.
Quantitation of GD2 synthase mRNA by real-time reverse transcriptase polymerase chain reaction: clinical utility in evaluating adjuvant therapy in neuroblastoma.
Quantitation of GD2 synthase mRNA by real-time reverse transcription-polymerase chain reaction: utility in bone marrow purging of neuroblastoma by anti-GD2 antibody 3F8.
Valproic acid-mediated transcriptional regulation of human GM3 synthase (hST3Gal V) in SK-N-BE(2)-C human neuroblastoma cells.
Niemann-Pick Disease, Type C
Inhibition of GM3 Synthase Attenuates Neuropathology of Niemann-Pick Disease Type C by Affecting Sphingolipid Metabolism.
Niemann-Pick Diseases
Inhibition of GM3 Synthase Attenuates Neuropathology of Niemann-Pick Disease Type C by Affecting Sphingolipid Metabolism.
Osteoarthritis
Ganglioside GM3 has an essential role in the pathogenesis and progression of rheumatoid arthritis.
Ovarian Neoplasms
A glycosphingolipid/caveolin-1 signaling complex inhibits motility of human ovarian carcinoma cells.
Human GM3 Synthase Attenuates Taxol-Triggered Apoptosis Associated with Downregulation of Caspase-3 in Ovarian Cancer Cells.
Polycystic Kidney Diseases
Loss of GM3 synthase gene, but not sphingosine kinase 1, is protective against murine nephronophthisis-related polycystic kidney disease.
Prion Diseases
Ganglioside Synthase Knockout Reduces Prion Disease Incubation Time in Mouse Models.
Retinoblastoma
Detection of minimally disseminated disease in the cerebrospinal fluid of children with high-risk retinoblastoma by reverse transcriptase-polymerase chain reaction for GD2 synthase mRNA.
Minimally disseminated disease and outcome in overt orbital retinoblastoma.
Optimization of molecular detection of GD2 synthase mRNA in retinoblastoma.
Scrapie
Ganglioside Synthase Knockout Reduces Prion Disease Incubation Time in Mouse Models.
Small Cell Lung Carcinoma
Analysis of GD2/GM2 synthase mRNA as a biomarker for small cell lung cancer.
Spastic Paraplegia, Hereditary
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies.
Urinary Bladder, Neurogenic
Parkinsonian GM2 synthase knockout mice lacking mature gangliosides develop urinary dysfunction and neurogenic bladder.
Urinary Bladder, Overactive
Parkinsonian GM2 synthase knockout mice lacking mature gangliosides develop urinary dysfunction and neurogenic bladder.