Inability of HEXB will lead to?-hexosaminidase defect and result in a group of recessive disorders called GM2 gangliosidoses, characterized by the accumulation of GM2 ganglioside.
22.
This protein is required for the normal function of beta-hexosaminidase A, a critical enzyme in the nervous system that breaks down a lipid called GM2 ganglioside.
23.
As a result, progressive damage caused by the resulting buildup of GM2 ganglioside leads to the destruction of nerve cells, causing the signs and symptoms associated with Sandhoff disease.
24.
A Michaelis complex consisting of a glutamate residue, a GalNAc residue on the G M2 ganglioside, and an aspartate residue leads to the formation of an oxazolinium ion intermediate.
25.
Gangliosides are lipids, components of cellular membranes, and the ganglioside GM2, implicated in Tay-Sachs disease, is especially common in the nervous tissue of the brain.
26.
Intracerebroventricular administration of the modified ?-hexosaminidase B to Sandhoff mode mice restored the ?-hexosaminidase activity in the brains, and reduced the GM2 ganglioside storage in the parenchyma.
27.
A ganglioside is a molecule consisting of ceramide bound to a small group of hexose-type sugars and containing various numbers of lipooligosaccharides ) that crossreact with human nerve cell gangliosides.
28.
In addition, it is involved in the synthesis of ganglioside GD1A from GM1B . The enzyme is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form.
29.
The ganglioside-converting enzyme plasma membrane ganglioside sialidase ( PMGS ), which is involved in the activation of TrkA at the tip of neutrites, is required for the elongation of axons.
30.
The ganglioside-converting enzyme plasma membrane ganglioside sialidase ( PMGS ), which is involved in the activation of TrkA at the tip of neutrites, is required for the elongation of axons.
