Hexosaminidase C was separated from human brain supernatant by immunoadsorption of the A and B forms on to a column of immobilized antibody followed by preparative starch-block electrophoresis. There were some differences in the properties of hexosaminidase C preparations after each of these stages, shown by comparison of their heat-inactivation characteristics and filtration through Bio-Gel P-...

beta-N-Acetylhexosaminidase I2 was purified from human liver by a combination of concanavalin A chromatography, DEAE-cellulose chromatography, gel filtration and affinity chromatography on 2-acetamido-N-(6-aminohexanoyl)-2-deoxy-beta-D-glucopyranosylamine coupled to CNBr-activated Sepharose 4B. Its specific activity was 130 mumol/min per mg of protein compared with values of 150 and 320 mumol/m...

We have automated a manual test for detection of heterozygotes of Tay-Sachs disease by assay of hexosaminidase A in serum, based on pH inactivation [C/in. Chim. Acta 43, 417 (1973)]. The same manifold is used both for the total hexosaminidase and pH-inactivation (hexosaminidase B) procedures. Automation expedites mass screening of the Ashkenazi Jewish population for carriers of the TaySachs gen...

It has been proposed that in cultured fibroblasts the final packaging of enzymes in lysosomes requires excretion followed by pinocytosis by neighboring cells via a carbohydrate-specific receptor mechanism. It has also been proposed that the abnormally high activity of lysosomal enzymes in the medium of cultured fibroblasts from patients with I-cell disease (mucolipidosis II) results from an alt...

Sandhoff disease is a recessively inherited lysosomal storage disease resulting from a deficiency of beta-hexosaminidase activity. The enzyme occurs in two major forms, beta-hexosaminidase A, composed of an alpha- and beta-subunit and beta-hexosaminidase B, composed of two beta-subunits. Both isozyme activities are deficient in Sandhoff disease, owing to mutations of the HEXB gene encoding the ...

Sandhoff Disease (SD) is an autosomal recessive neurodegenerative disease caused by a mutation in the Hexb gene for the β-subunit of β-hexosaminidase A, resulting in the inability to catabolize ganglioside GM2 within the lysosomes. SD presents with an accumulation of GM2 and its asialo derivative GA2 primarily in the CNS. Myelin-enriched glycolipids, cerebrosides and sulfatides, are also decrea...

A protein activator (GMz-activator) specific for stimulating the hydrolysis of G M ~ ganglioside (GalNAcb1 4GalC3 + 2aNeuAc]/?l-+ 4Glcb1-+ 1’Cer) by &hexosaminidase A has been purified over 1OS-fold with a high yield from human liver. The purification procedure includes the adjustment of the pH of liver extract to pH 4.3, followed by ammonium sulfate precipitation, Sephadex G-200 filtration, an...

Abstract The aim of this study is to identify the active compounds essential oil extracted from Pinus densiflora (Sieb. et Zucc.) wood using hydrodistillation method and evaluate their anti-inflammatory activity. chemical composition was identified by GC–MS analysis, its activity assessed investigating effect on expression interleukin-4 (IL-4), interleukin-13 (IL-13), ? -hexosaminidase in lipop...

A method for the preparation of highly purified @-hexosaminidase isozymes A and B from human placenta is presented. The purified enzymes possess identical molecular weight and exhibit similar kinetic parameters with artificial fluorogenic substrates. Both enzymes catalyze the hydrolysis of Tay-Sachs ganglioside (Cer-Glc-Gal(NeuAc)-GalNAc) and the corresponding asialo-derivative (Cer-Glc-GalGalN...