Search results
Results from the WOW.Com Content Network
The GM1 gangliosidoses, usually shortened to GM1, are gangliosidoses caused by mutation in the GLB1 gene resulting in a deficiency of beta-galactosidase.The deficiency causes abnormal storage of acidic lipid materials in cells of the central and peripheral nervous systems, but particularly in the nerve cells, resulting in progressive neurodegeneration.
GM1 has important physiological properties and impacts neuronal plasticity and repair mechanisms, and the release of neurotrophins in the brain. Besides its function in the physiology of the brain, GM1 acts as the site of binding for both cholera toxin and E. coli heat-labile enterotoxin ( Traveller's diarrhea ).
Mutations in genes coding for these enzymes leads to the accumulation of partially broken down gangliosides in lysosomes, which results in a group of diseases called gangliosidosis. For example, the fatal Tay–Sachs disease arises as a genetic defect which leads to no functional hexosaminidase A produced, causing GM2 to accumulate in lysosomes.
GM1-gangliosidosis is a lysosomal storage disease that can be caused by a deficiency of β-galactosidase (GLB1). Some cases of Morquio syndrome B have been shown to be due to GLP1 mutations that cause patients to have abnormal elastic fibers .
Gangliosidosis contains different types of lipid storage disorders [1] caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. There are two distinct genetic causes of the disease.
It is associated with GM2 gangliosidoses such as Tay–Sachs disease. [1] See also ... Additional images. Sphingolipidoses. Structures of GM1, GM2, GM3 gangliosides ...
There are about 0.7 to 1.5 million retinal ganglion cells in the human retina. [2] With about 4.6 million cone cells and 92 million rod cells, or 96.6 million photoreceptors per retina, [3] on average each retinal ganglion cell receives inputs from about 100 rods and cones.
Examples of ganglion cells include: Retinal ganglion cell (RGC) found in the ganglion cell layer of the retina [1] Cells that reside in the adrenal medulla, where they are involved in the sympathetic nervous system's release of epinephrine and norepinephrine into the blood stream; Cells of the sympathetic ganglia; Cells of the parasympathetic ...