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Literature summary for 2.4.1.92 extracted from

  • Kreutz, F.; dos Santos Petry, F.; Camassola, M.; Schein, V.; Guma, F.C.; Nardi, N.B.; Trindade, V.M.
    Alterations of membrane lipids and in gene expression of ganglioside metabolism in different brain structures in a mouse model of mucopolysaccharidosis type I (MPS I) (2013), Gene, 527, 109-114.
    View publication on PubMed
Search for more literature for 2.4.1.92

Cloned(Commentary)

Cloned (Comment) Organism
gene B4GALNT1, semi-quantitative PCR enzyme expression analysis in brain tissues in wild-type and IDUA knockout mice Mus musculus

Protein Variants

Protein Variants Comment Organism
additional information comparisons of relative expressions of ganglioside metabolism genes in wild-type and IDUA knockout mice, overview Mus musculus

Organism

Organism UniProt Comment Textmining
Mus musculus Q09200 alpha-L-iduronidase (IDUA) knockout mutant variant, gene B4GALNT1
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Mus musculus C57BL/6 Q09200 alpha-L-iduronidase (IDUA) knockout mutant variant, gene B4GALNT1
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Source Tissue

Source Tissue Comment Organism Textmining
hippocampus
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 Mus musculus
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hypothalamus
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 Mus musculus
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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
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Synonyms

Synonyms Comment Organism
GM2/GD2 synthase
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 Mus musculus

General Information

General Information Comment Organism
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
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