Presence of an Unusual GM2 Derivative, Taurine-conjugated GM2, in Tay-Sachs Brain
نویسندگان
چکیده
منابع مشابه
GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series)
OBJECTIVE GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. MATERIALS & METHODS Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's...
متن کاملSialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells.
Tay-Sachs disease is a severe, inherited disease of the nervous system caused by accumulation of the brain lipid GM2 ganglioside. Mouse models of Tay-Sachs disease have revealed a metabolic bypass of the genetic defect based on the more potent activity of the enzyme sialidase towards GM2. To determine whether increasing the level of sialidase would produce a similar effect in human Tay-Sachs ce...
متن کاملLyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease
To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified hexosaminidase (Hex) B exhibiting Hex A-like activity was examined. Then, the lyso-GM2 concentrations in human plasma samples were determined. The lyso-...
متن کاملgm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series)
how to cite this article: karimzadeh p, jafari n, nejad biglari h, jabbeh dari s, ahmad abadi f, alaee mr, nemati h, saket s, tonekaboni sh, taghdiri mm, ghofrani m. gm2-gangliosidosis (sandhoff and tay sachs disease): diagnosis and neuroimaging findings (an iranian pediatric case series) iran j child neurol. 2014 summer;8(3): 55-60. abstract objective gm2-gangliosidosis disease is a rare aut...
متن کاملApoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2 ganglioside by beta-hexosaminidase A (Hex A) due to mutations of the alpha subunit (Tay-Sachs disease) or beta subunit (Sandhoff disease) of Hex A. Hex B (beta beta homodimer) is also defective in Sandhoff disease. We previously developed mouse models of both disease...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2003
ISSN: 0021-9258
DOI: 10.1074/jbc.m306126200