Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.23 (beta-galactosidase)
 14,648 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

(+)--Cyanidanol, a water-soluble flavonoid, when added to cultured skin fibroblasts of a patient with I-cell disease raised the intracellular concentration of beta-galactosidase but did not affect the distribution of arylsulfatase. A, alpha-mannosidase or beta-glucuronidase. The elevated accumulation of 35SO4 by I-cell, Hunter and Maroteaux-Lamy fibroblasts was decreased by the addition of (+)--cyanidanol to the culture medium, but the degradation of previously labeled, intracellular glycosaminoglycans was not. It is concluded that (+)--cyanidanol does not produce a biochemical correction of the enzymic abnormalities existing in I-cell fibroblasts.
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PMID:The effect of (+) --cyanidanol on lysosomal enzymes of I-cell fibroblasts. 2 Jun 73

The activity of neuraminidase in liver and brain from I-cell disease (Mucolipidosis II) was investigated. Neuraminidase activities using two substrates [alpha-L-N-acetylneuraminosyl(2 leads to 3)lactose and alpha-L-N-acetylneuraminosyl(2 leads to 6)lactose] were reduced in the supernatant and sedimentable fractions obtained in isotonic KCl. The activity of beta-D-galactosidase was also reduced in the liver; on the other hand, both neuraminidase fractions were normal, although beta-galactosidase activities were markedly reduced. In view of these results, it is suggested that the defect of neuraminidase is not directly responsible for the primary etiology of I-cell disease.
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PMID:Neuraminidase activity in liver and brain from patients with I-cell disease. 11 36

Neuraminidase was assayed in the frozen autopsy tissues from three patients with I-cell disease and an adult patient with cherry-red spots, myoclonus, cerebellar ataxia and beta-galactosidase deficiency. Both diseases showed normal neuraminidase activity toward neuramine lactose and fetuin in cerebral gray matter, liver and kidney. These results suggest that the neuraminidase deficiency is limited only to some tissues and that this biochemical abnormality is not caused by a primary genetic mutation in these diseases.
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PMID:Neuraminidase in mucolipidoses: normal activity in frozen autopsy tissues from three patients with I-cell disease and adult beta-galactosidase deficiency. 11 81

1. The elution profiles of eleven acid hydrolases from human liver and plasma were directly compared using a system whereby a single salt gradient was simultaneously applied to two DEAE-cellulose chromatographic columns. 2. Plasma alpha-L-fucosidase, alpha-mannosidase, alpha-galactosidase and alpha-glucosidase isoenzymes were eluted at higher salt concentrations than the corresponding liver isoenzymes whereasbeta-N-acetylglucosaminidase, beta-galactosidase, beta-glucosidase, exo-1,4-beta-xylosidase and alpha-L-arabinofuranosidase isoenzymes were eluted at lower salt concentrations. The elution profiles of beta-glucuronidase and acid phosphatase weremore complex. 3. After incubation with neuraminidase most plasma hydrolases were eluted at lower salt concentrations, however the elution patterns of beta-glucosidase, beta-xylosidase and acid phosphatase were not altered. 4. Preincubation with neuraminidase had no effect on the elution profiles of six liver hydrolases whereas the major isoenzymes of alpha-mannosidase, beta-galactosidase and alpha-L-arabinofuranosidase were eluted at markedly lower salt concentrations. Liver alpha-fucosidase and alpha-galactosidase were eluted at slightly lower salt concentrations afterincubation with neuraminidase. 5. The results are discussed in relation to thepathogenesis of Mucolipidosis II (I-cell disease), and the synthesis and packaging of lysosomal enzymes.
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PMID:Effect of neuraminidase on the chromatographic behaviour of eleven acid hydrolases from human liver and plasma. 19 Dec 58

An autopsy case of I-cell disease was examined by histological, histochemical, ultrastructural and biochemical methods. Cultured fibroblasts contained numerous PAS- and oil-red O positive granules consistent with lysosomes. The beta-galactosidase activity was specifically low in liver of the patient. The fiboblast-like cells including the cardiac valves, periosteum and stromal cells of the organs were closely similar to those found in mucopolysaccharidoses histochemically as well as ultrastructurally. Lipid-like materials were observed massively in the myocardium and in the neurons of spinal ganglia, and from these organs excessive amount of ceramide tri-hexosides (CTH) was extracted. In a few hepatocytes the dense membrane-bound bodies suggestive of lipids were found by electron microscopy. Swollen glomerular epithelium contained strongly colloidal-iron positive material, but the amount of mucopolysaccharides in kidney was not elevated. In this paper, the relationship among the morphology, the material stored and the enzymes was discussed.
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PMID:I-cell disease (mucolipidosis 11). Pathological and biochemical studies of an autopsy case. 19 52

Skin and conjunctival biopsy specimens from fourteen patients with neuronal storage diseases were investigated using an electron microscope. The diseases were Tay-Sachs disease, ceroid-lipofuscinosis (Jansky-Bielschowsky type), Niemann-Pick disease (type B), highly suspected adrenoleukodystrophy, I-cell disease, mucolipidosis of the beta-galactosidase deficient type, Hurler disease, Hunter disease and Morquio disease. This examination provided valuable diagnostic information on some neuronal storage diseases but not on Morquio disease or highly suspected adrenoleukodystrophy. False negative results may sometimes occur using this examination method. However, this examination suggests the usefulness of skin and conjunctival biopsy specimens as a diagnostic tool in some neuronal storage diseases.
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PMID:Electron microscopic examination of skin and conjunctival biopsy specimens in neuronal storage diseases. 23 94

beta-Galactosidase activities were studied in livers and leukocytes of mucopolysaccharidoses and mucolipidoses (I-cell disease and adult "beta-galactosidase deficiency" with macular cherry-red spots). Marked deficiency of hepatic 4-methylumbelliferyl (4MU) and GM1 beta-galactosidases was demonstrated in these diseases. Leukocyte GM1 beta-galactosidase was also deficient in mucolipidoses. The parents of the patients with I-cell disease and "beta-galactosidase deficiency" had normal beta-galactosidase activity in plasma and leukocytes, compared to the low enzyme activity in heterozygous carriers of GM1-gangliosidosis. The cause of this enzyme deficiency in these diseases is not clear at present. It seems to be affected seondarily by exgenous factors such as unknown stored materials in the cells. Mucopolysaccharides were not increased in the livers of two cases of I-cell disease and a case of "beta-galactosidase deficiency".
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PMID:beta-Galactosidase in mucopolysaccharidoses and mucolipidoses. Deficiency of GM1 beta-galactosidase in liver and leukocytes. 40 36

Isoelectric focusing of the acid beta-D-galactosidases (beta-D-galactoside galactohydrolase, EC 3.2.1.23) in normal crude liver supernatant fluids demonstrated multiple isoelectric forms in the pH range 4.58-5.15, while corresponding I-cell disease samples showed an absence of isoelectric forms in the pH range 4.99-5.15. Concanavalin A-Sepharose 4B chromatography of the I-cell disease mutant C.A. demonstrated a 31% and 37% decrease in the binding of 4-methyl-umbelliferyl-beta-D-galactosidase and GM1 beta-D-galactosidase activities, respectively, when compared to normal samples. Isoelectric focusing profiles of the concanavalin A-Sepharose 4B alpha-methyl-D-mannoside effluents containing normal and I-cell disease acid beta-D-galactosidase were generally similar, but the unadsorbed I-cell disease enzyme from concanavalin A-Sepharose 4B demonstrated more activity in the pH range 4.21-4.49 than normals. Normal and I-cell disease acid beta-D-galactosidase "A" and "B", separated by gel column chromatography were found to have similar properties with respect to apparent molecular weights pH vs. activity profiles and apparent Km values for the 4 methylumbelliferyl-beta-D-galactopyranoside, GM1-ganglioside and asialofetuin (ASF) substrates. However, the apparent V values for the ICD samples were consistently reduced when compared to the results obtained with the corresponding normal fractions. The greatest decreases in apparent V were obtained for acid beta-D-galactosidase activities in I-cell disease crude supernatant fluids, and for the separated I-cell disease "B" enzyme. The differences in the isoelectric focusing profiles, the altered binding to concanavalin A-Sepharose 4B, and the reduced V values with natural and synthetic substrates may be related to changes in carbohydrate composition of I-cell disease acid beta-D-galactosidase.
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PMID:I-Cell disease: isoelectric focusing, concanavalin A-Sepharose 4B binding and kinetic properties of human liver acid beta-D-galactosidases. 41 80

A method is described for the detection of abnormal oligosaccharides in a small (5 ml) volume of urine, employing filtration on a Bio Gel P-6 column, determination of neutral sugar and bound sialic acid, and determination of creatinine content. With this method increased urinary excretion of sialic acid-rich oligosaccharides has been detected in nine patients with mucolipidoses (five cases of mucolipidosis II and four patients of mucolipidosis, with beta-galactosidase deficiency). The filtration patterns of oligosaccharides in mucolipidoses were clearly distinguishable from those in other inborn errors of metabolism. Total excreted oligosaccharides were increased 5--30-fold in these patients; mucolipidosis II, 640--1350 microgram neutral sugar/mg creatinine; control 54 +/- 20 microgram neutral sugar/mg creatinine. The oligosaccharides consisted of three sialic acid-rich fractions and were common in both types of mucolipidosis. Our data indicate that hypersialyoligosacchariduria is the main biochemical feature of both types of mucolipidosis.
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PMID:Hypersialyloligosacchariduria in mucolipidoses: a method for diagnosis. 65 39

A biochemical difference is found between the mucolipidoses II and III which may be correlated with their clinical phenotypes. In homogenates of mass-cultured I-cells from patients with MLII (I-cell disease), the residual specific activity of beta-galactosidase is between 3 and 5 times lower than that in the I-cells from patients with MLIII (pseudopolydystrophy). This difference is confirmed in several coverslip culture experiments where conditions of inoculation, propagation, harvest and enzyme assays are rigidly controlled. MLIII cells also hydrolyse the natural substrates asialofetuin-(H)3-galactoside and GM1- (H)3-galactoside more easily. This observation offers support to the hypothesis that beta-galactosidase may play a role in the physiopathology of these mucolipidoses.
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PMID:Mucolipidosis II and III: different residual activity of beta-galactosidase in cultured fibroblasts. 126 76


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