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 ).
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. [9]
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.
Structure of GM1 ganglioside. A ganglioside is a molecule composed of a glycosphingolipid ... which results in a group of diseases called gangliosidosis.
Levels of anti-GM1 antibodies are especially elevated in patients with prodromal diarrhea. [7] Titers to GM1 in other diseases (rheumatoid arthritis, primary Sjögren's syndrome and systemic lupus erythematosus) was also elevated. [8] Additionally highly significant association was found with rheumatoid arthritis and peripheral neuropathies. [9]
By Joseph Ax, Rich McKay and Brad Brooks. NEW YORK (Reuters) - In the days since Luigi Mangione was charged with murder for gunning down a top health insurance executive, more than a thousand ...
GM2-gangliosidosis, AB variant is a rare, autosomal recessive metabolic disorder that causes progressive destruction of nerve cells in the brain and spinal cord. Mutations in the GM2A gene cause AB variant. The GM2A gene provides instructions for making a protein called the GM2 activator.