This is an abbreviated version! For detailed information about (N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase, go to the full flat file.
UVB-irradiation of keratinocytes induces melanoma-associated ganglioside GM2/GD2 synthase gene in melanocytes via secretion of tumor necrosis factor alpha and interleukin 6
genes of complement components (C1qalpha, C1qbeta, C1qgamma, C4 and C3aR) are up-regulated in the cerebellum of mice with combined knockout of GM2/GD2 synthase and GD3 synthase
in animals lacking either GM2/GD2 or GM3 synthase, tissue cholesterol concentrations and synthesis rates are normal in nearly all organs, and whole-animal sterol pools and turnover also are not different from control animals. Mice lacking both synthases, however, have small elevations in cholesterol concentrations in several organs, and the whole-animal cholesterol pool is marginally elevated. When either the GM2/GD2 or GM3 synthase activity is deleted in mice lacking Niemann-Pick type C function, the clinical phenotype is not changed, but lifespan is shortened.
alpha-L-iduronidase knockout mutant, IDUA KO, mice show reduced expression of GD3 and GM2/GD2 synthases and neuraminidase1 in cerebellum, and a decrease in GM2/GD2 synthase and neuraminidase 1 in the hippocampus. The observed ganglioside changes result from a combined effect of glycosaminoglycans on ganglioside biosynthesis and degradation. C57Bl/6 knockout mice deficient for alpha-L-iduronidase (IDUA-KO) represent a murine model for human mucopolysaccharidosis type I, MPS I, an autosomal recessive disease caused by a genetic defect that codifies a lysosomal hydrolase, alpha-L-iduronidase, IDUA, EC. 3.2.1.76
mutations in gene B4GALNT1 are the cause of an unusual neurodegenerative phenotype, most commonly classified as a complex form of hereditary spastic paraplegia, present in families from Kuwait, Italy and the Old Order Amish. Biochemical profiling of glycosphingolipid biosynthesis confirms a lack of GM2 in affected subjects in association with a predictable increase in levels of its precursor, GM3. In the absence of functional GM2 synthase in the patient cells, there will be a lack of downstream glycosphingolipids as substrates for sialyltransferase, ST3GALII, and this may be the cause of the ectopic sialylation of Gb3
alpha-L-iduronidase knockout mutant, IDUA KO, mice show reduced expression of GD3 and GM2/GD2 synthases and neuraminidase1 in cerebellum, and a decrease in GM2/GD2 synthase and neuraminidase 1 in the hippocampus. The observed ganglioside changes result from a combined effect of glycosaminoglycans on ganglioside biosynthesis and degradation. C57Bl/6 knockout mice deficient for alpha-L-iduronidase (IDUA-KO) represent a murine model for human mucopolysaccharidosis type I, MPS I, an autosomal recessive disease caused by a genetic defect that codifies a lysosomal hydrolase, alpha-L-iduronidase, IDUA, EC. 3.2.1.76
the enzyme is responsible for the biosynthesis of GM2 and GD2 gangliosides, biosynthesis and degradation pathways of a- and b-series gangliosides, overview
the enzyme is responsible for the biosynthesis of GM2 and GD2 gangliosides, biosynthesis and degradation pathways of a- and b-series gangliosides, overview
GM3 synthase overexpression results in reduced cell motility accompanied by reduced levels of the epithelial-mesenchymal transition marker alpha smooth muscle actin and in caveolin-1 upregulation in human ovarian carcinoma cells
GM2 synthase is a GalNAc transferase responsible for synthesizing GM2, GA2 and GD2. GM2 ganglioside is a sialylated glycosphingolipid that is synthesized in the Golgi apparatus as part of a complex biosynthetic pathway