EC Number | Cloned (Comment) | Organism |
---|---|---|
2.4.1.92 | gene B4GALNT1, semi-quantitative PCR enzyme expression analysis in brain tissues in wild-type and IDUA knockout mice | Mus musculus |
2.4.3.8 | gene ST8SIA1, semi-quantitative PCR enzyme expression analysis in brain tissues in wild-type and IDUA knockout mice | Mus musculus |
2.4.3.9 | gene St3gal5, semi-quantitative PCR enzyme expression analysis in brain tissues of wild-type and IDUA knockout mice | Mus musculus |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
2.4.1.92 | additional information | comparisons of relative expressions of ganglioside metabolism genes in wild-type and IDUA knockout mice, overview | Mus musculus |
2.4.3.8 | additional information | comparisons of relative expressions of ganglioside metabolism genes in wild-type and IDUA knockout mice, overview | Mus musculus |
2.4.3.9 | additional information | comparisons of relative expressions of ganglioside metabolism genes in wild-type and IDUA knockout mice, overview | Mus musculus |
EC Number | Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.4.3.8 | CMP-N-acetylneuraminate + ganglioside GM3 | Mus musculus | - |
CMP + ganglioside GD3 | - |
? | |
2.4.3.8 | CMP-N-acetylneuraminate + ganglioside GM3 | Mus musculus C57BL/6 | - |
CMP + ganglioside GD3 | - |
? |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
2.4.1.92 | Mus musculus | Q09200 | alpha-L-iduronidase (IDUA) knockout mutant variant, gene B4GALNT1 | - |
2.4.1.92 | Mus musculus C57BL/6 | Q09200 | alpha-L-iduronidase (IDUA) knockout mutant variant, gene B4GALNT1 | - |
2.4.3.8 | Mus musculus | Q64687 | alpha-L-iduronidase (IDUA) knockout mutant variant, gene ST8SIA1 | - |
2.4.3.8 | Mus musculus C57BL/6 | Q64687 | alpha-L-iduronidase (IDUA) knockout mutant variant, gene ST8SIA1 | - |
2.4.3.9 | Mus musculus | O88829 | alpha-L-iduronidase (IDUA) knockout mutant variant, gene St3gal5 | - |
2.4.3.9 | Mus musculus C57BL/6 | O88829 | alpha-L-iduronidase (IDUA) knockout mutant variant, gene St3gal5 | - |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
2.4.1.92 | hippocampus | - |
Mus musculus | - |
2.4.1.92 | hypothalamus | - |
Mus musculus | - |
2.4.1.92 | additional information | ganglioside profile analyses in brain tissues, overview. Tissue dependent ganglioside alteration in IDUA KO mice with a total ganglioside increase in cortex and cerebellum, and a selective presence of GM3, GM2 and GD3 gangliosides in the hippocampus and hypothalamus. Evaluation of gene expression of ganglioside synthesis (GM3, GD3 and GM2/GD2 synthases) and degradation of (neuraminidase1) enzymes in the cerebellum and hippocampus by RT-sq-PCR. Percentage distribution of gangliosides in wild-type and IDUA knockout mice, overview | Mus musculus | - |
2.4.3.8 | hippocampus | - |
Mus musculus | - |
2.4.3.8 | hypothalamus | - |
Mus musculus | - |
2.4.3.8 | additional information | ganglioside profile analyses in brain tissues, overview. Tissue dependent ganglioside alteration in IDUA KO mice with a total ganglioside increase in cortex and cerebellum, and a selective presence of GM3, GM2 and GD3 gangliosides in the hippocampus and hypothalamus. Evaluation of gene expression of ganglioside synthesis (GM3, GD3 and GM2/GD2 synthases) and degradation of (neuraminidase1) enzymes in the cerebellum and hippocampus by RT-sq-PCR. Percentage distribution of gangliosides in wild-type and IDUA knockout mice, overview | Mus musculus | - |
2.4.3.9 | hippocampus | - |
Mus musculus | - |
2.4.3.9 | hypothalamus | - |
Mus musculus | - |
2.4.3.9 | additional information | ganglioside profile analyses in brain tissues, overview. Tissue dependent ganglioside alteration in IDUA KO mice with a total ganglioside increase in cortex and cerebellum, and a selective presence of GM3, GM2 and GD3 gangliosides in the hippocampus and hypothalamus. Evaluation of gene expression of ganglioside synthesis (GM3, GD3 and GM2/GD2 synthases) and degradation of (neuraminidase1) enzymes in the cerebellum and hippocampus by RT-sq-PCR. Percentage distribution of gangliosides in wild-type and IDUA knockout mice, overview | Mus musculus | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
2.4.3.8 | CMP-N-acetylneuraminate + ganglioside GM3 | - |
Mus musculus | CMP + ganglioside GD3 | - |
? | |
2.4.3.8 | CMP-N-acetylneuraminate + ganglioside GM3 | - |
Mus musculus C57BL/6 | CMP + ganglioside GD3 | - |
? |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
2.4.1.92 | GM2/GD2 synthase | - |
Mus musculus |
2.4.3.8 | GD3 synthase | - |
Mus musculus |
2.4.3.9 | GM3 synthase | - |
Mus musculus |
EC Number | General Information | Comment | Organism |
---|---|---|---|
2.4.1.92 | malfunction | 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 | Mus musculus |
2.4.1.92 | metabolism | the enzyme is responsible for the biosynthesis of GM2 and GD2 gangliosides, biosynthesis and degradation pathways of a- and b-series gangliosides, overview | Mus musculus |
2.4.3.8 | malfunction | 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 neuraminidase1 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 | Mus musculus |
2.4.3.8 | metabolism | the enzyme is responsible for the biosynthesis of GD3 ganglioside, biosynthesis and degradation pathways of a- and b-series gangliosides, overview | Mus musculus |
2.4.3.9 | malfunction | 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 | Mus musculus |
2.4.3.9 | metabolism | the enzyme is responsible for the biosynthesis of GM3 ganglioside, biosynthesis and degradation pathways of a- and b-series gangliosides, overview | Mus musculus |