نتایج جستجو برای: گانگلیوزیدوز gm2
تعداد نتایج: 703 فیلتر نتایج به سال:
Biotinylated analogues of gangliosides GM2, GM1, GD1a and GalNAc-GD1a were synthesized in high yields using glycosyltransferases from Campylobacter jejuni. The presence of a biotin moiety in the aglycone part of these mimics allows for attachment of these materials onto various streptavidin-coated surfaces. Analysis of the interaction of biotin-appended GM1 with the B subunit of Escherichia col...
We report a female premature infant with bronchopulmonary dysplasia and Sandhoff disease. The clue for diagnosis was the fundoscopy examination. We discuss this rare disease with unusual presentation of intrauterine growth retardation, premature delivery, and bronchopulmonary dysplasia.
Background and aim: Tachyx is a rare autosomal recessive and neurological disorder caused by glycosfenolipid accumulation (GM2 ganglioside) in cell lysosomes. The accumulation of GM2 ganglioside is due to the mutation in the beta-hexose aminase gene (HEXA), which reduces the activity and deficiency of the HEXA enzyme. The aim of this study was to report 2 cases of T.Sax disease. Case report:...
Immunochemical quantitative determination of a lipid antigen, ganglioside GM2, has been developed, based on the inhibition of the immune lysis of liposomes containing the antigen in their lipid bilayer. It has been shown that the full expression of the antigenicity of the competing lipid requires its dispersion in accessory lipids. The assay of inhibition of liposome lysis can be used also for ...
An adult with Sandhoff disease presented with pure lower motor neuron phenotype. Twenty years later, he showed signs of upper motor neuron involvement. 25 years from the onset, his muscle weakness slightly worsened but he was fully independent in activities of daily living. GM2-gangliosidosis can manifest as a motor neuron disease with a slowly progressive course. The correct knowledge of the n...
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...
Several lines of transgenic mice with gangliosides GM2/GD2 synthase gene were established, and the expression levels of the transgene in brain, liver, spleen and thymus were analyzed by comparing with those in their litter mates. Among four tissues, brain and skin showed markedly high expression levels of the transgene in Northern blotting. Particularly, transgenic mice skin showed about 10-fol...
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