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Sandhoff disease is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. The disease results from mutations on chromosome 5 in the HEXB gene, critical for the lysosomal enzymes beta-N-acetylhexosaminidase A and B. Sandhoff disease is clinically indistinguishable from Tay ...
GM2A is a lipid transfer protein that stimulates the enzymatic processing of gangliosides, and also T-cell activation through lipid presentation. This protein binds molecules of ganglioside GM2, extracts them from membranes, and presents them to beta- hexosaminidase A for cleavage of N-acetyl-D-galactosamine and conversion to GM3.
The name ganglioside was first applied by the German scientist Ernst Klenk in 1942 to lipids newly isolated from ganglion cells of the brain. [1] More than 60 gangliosides are known, which differ from each other mainly in the position and number of NANA residues.
This enzyme catalyses the formation of the gangliosides (i.e. sialic-acid-containing glycosphingolipids) GM2, GD2 and SM2 from GM3, GD3 and SM3, respectively. References [ edit ]
Signs and symptoms of GM2-gangliosidosis, AB variant are identical with those of infantile Tay–Sachs disease, except that enzyme assay testing shows normal levels of hexosaminidase A. [2] Infantile Sandhoff disease has similar symptoms and prognosis, except that there is deficiency of both hexosaminidase A and hexosaminidase B. Infants with this disorder typically appear normal until the age ...
In organic chemistry, GM2 is a type of ganglioside. G refers to ganglioside, the M is for monosialic (as in it has one sialic acid), and 2 refers to the fact that it was the second monosialic ganglioside discovered. It is associated with GM2 gangliosidoses such as Tay–Sachs disease. [1]
In collaboration with Scott D. Larsen, Shayman's work has also been directed toward the identification of brain-penetrant glycolipid synthesis inhibitors for the treatment of Gaucher disease types 2 and 3, [17] GM2 gangliosidoses including Tay-Sachs and Sandhoff disease, and GM1 gangliosidosis. [18]
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