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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.
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.
A summary showing the causes of sphingolipidosis, including gangliosidosis. Gangliosides are also involved in several diseases: Influenza, in which haemagglutinin of influenza virus exploits certain gangliosides to enter and infect the cells expressing them.
GM1 gangliosidosis are inherited disorders that progressively destroy neurons in the brain and spinal cord as GM1 accumulates. Without treatment, this results in developmental decline and muscle weakness, eventually leading to severe retardation and death.
When beta-hexosaminidase is no longer functioning properly, the lipids accumulate in the nervous tissue of the brain and cause problems. Gangliosides are made and biodegraded rapidly in early life as the brain develops. Except in some rare, late-onset forms, the GM2 gangliosidoses are fatal. [1] All three disorders are rare in the general ...
Anti-GD3 antibodies have been found in association with specific forms of Guillain–Barré syndrome. In vivo studies of isolated anti-GM1 and GD3 antibodies indicate the antibodies can interfere with motor neuron function. [2]
The two mouse ROCK isoforms, ROCK1 and ROCK2, have high homology.They have 65% amino acid sequences in common and 92% homology within their kinase domains. [1] [4]ROCKs are homologous to other metazoan kinases such as myotonic dystrophy kinase (), DMPK-related cell division control protein 42 ()-binding kinases (MRCK) and citron kinase.
A cyanotic heart defect is any congenital heart defect (CHD) that occurs due to deoxygenated blood bypassing the lungs and entering the systemic circulation, or a mixture of oxygenated and unoxygenated blood entering the systemic circulation.