Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound   Target Concepts: Gene/Protein Disease Symptom Drug Enzyme Compound

---

Query: EC:3.2.1.23 (beta-galactosidase)
14,648 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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.
...
PMID:I-cell disease (mucolipidosis 11). Pathological and biochemical studies of an autopsy case. 19 52

Two sisters are described with demonstrable splenomegaly already from infancy and, after the age of 2--4 years, signs of slowly progressive encephalophy, vacuolated lymphocytes in the peripheral blood, and peculiar foam cells in the bone marrow aspirates. The died at 7 3/4 and 6 1/2 years. Widely spread in the brain, the nerve cell bodies were found to show extensive ballooning. It was most striking in the brain stem and spinal cord, while cerebellar structures were remarkably well preserved. The cytoplasm of the ballooned nerve cells was filled with finely granular storage material stainable as a readily soluble glycolipid. The spleen, liver and intestinal wall contained numerous foamy PAS-positive macrophages. Chemical assays showed a ten-fold increase of lactosylceramide and a modest one of minor gangliosides brain cortex. No accumulation sphingomyelin could be revealed, and the sphingomyelinase activity was found to be normal. The ganglioside GM1 beta-galactosidase activity of leucocytes was reduced to 20--25% of normal, which indicated a disturbance of the glycosaminoglycan metabolism. The tissue content of glycosaminoglycans was, however, normal, but an accumulation of lactose was demonstrated in the spleen. It is postulated that the primary enzymic defect is a disturbance of a lysosomal beta-galactosidase with a substrate specificity for lactose and other oligosaccharides with a terminal beta-galactosidic linkage.
...
PMID:Neurovisceral storage disorder simulating Niemann-Pick disease. A new form of oligosaccharidosis? 58 Mar 8

The aim of our presentation was to show how we characterize cells cultured in monolayer system. Cytological and biochemical methods were used. Ovarian Krukenberg tumour fibroblasts were investigated and findings were correlated with normal human diploids (HDZ1) and with fibroblasts obtained from Blighted ovum. Cytomorphologically Malignancy associated changes in the tumour fibroblasts were found. Cytochemically acid phosphatase and alpha-naphtyl-esterase were positive (+++). PAS reaction was doubled in 18th passage. Cytogenetically normal human diploids were found. Biochemically enzymatic assay showed phosphopentose shunt is decreased in tumour fibroblasts and alpha-glucosidase and beta-galactosidase activities were significantly lower in these cells. A form of N-acetyl-beta-glucosaminidase fell during the investigation from normal 75% to lower percent (42% of the total activity). Much more parameters were obtained by different methods and Krukenberg tumour fibroblasts may be better understood. In vitro investigation makes a contribution to biomedical knowledge in cancer research.
...
PMID:Cytological and biochemical methods for the characterization of in vitro cultured cells. 626 64

A DNA fragment specific to a Vibrio species was found to promote extracellular secretion of proteins, when cloned into Escherichia coli. Cells harboring a plasmid carrying this fragment secreted significant amounts of periplasmic beta-lactamase and alkaline phosphatase into the medium, however most cytoplasmic beta-galactosidase was retained within the cell. The DNA sequence essential for this property was found to be a gene encoding 76 amino acids, which was designated as the 'PAS factor'. Highly expressed PAS factor is harmful to the cell, this may be due to a disruption of the membrane structure and/or function.
...
PMID:A novel protein secretion factor from a Vibrio species which operates in Escherichia coli. 776 27

GM1-gangliosidosis is a progressive neurological disease in humans caused by deficiency of lysosomal acid beta-galactosidase, which hydrolyses the terminal beta-galactosidic residue from ganglioside GM1 and other glycoconjugates. In this study, we generated a mouse model for GM1-gangliosidosis by gene targeting in embryonic stem cells. The mouse homozygous for the disrupted beta-galactosidase gene showed beta-galactosidase deficiency, presented with progressive spastic diplegia, and died of emaciation at 7-10 months of age. Pathologically, PAS-positive intracytoplasmic storage was observed in neuronal cells of various areas in the brain. Biochemical analysis revealed a marked accumulation of ganglioside GM1 and asialo GM1 in brain tissue. This animal model will be useful for pathogenetic analysis and therapeutic trial of human GM1-gangliosidosis.
...
PMID:Beta-galactosidase-deficient mouse as an animal model for GM1-gangliosidosis. 933 86

The aryl hydrocarbon receptor (Ahr) is a ligand-activated transcription factor that binds DNA in the form of a heterodimer with the Ahr nuclear translocator (hypoxia-inducible factor 1beta). We found in this study that Ahr contains both nuclear localization and export signals in the NH2-terminal region. A fusion protein composed of beta-galactosidase and full-length Ahr translocates from the cytoplasm to the nucleus in a ligand-dependent manner. However, a fusion protein lacking the PAS (Per-Ahr nuclear translocator-Sim homology) domain of the Ahr showed strong nuclear localization activity irrespective of the presence or absence of ligand. A minimum bipartite Ahr nuclear localization signal (NLS) consisting of amino acid residues 13-39 was identified by microinjection of fused proteins with glutathione S-transferase-green fluorescent protein. A NLS having mutations in bipartite basic amino acids lost nuclear translocation activity completely, which may explain the reduced binding activity to the NLS receptor, PTAC58. A 21-amino acid peptide (residues 55-75) containing the Ahr nuclear export signal is sufficient to direct nuclear export of a microinjected complex of glutathione S-transferase-Ahr-green fluorescent protein. These findings strongly suggest that Ahr act as a ligand- and signal-dependent nucleocytoplasmic shuttling protein.
...
PMID:Nuclear localization and export signals of the human aryl hydrocarbon receptor. 944

Neuronal PAS domain protein 2 (NPAS2) is a basic helix-loop-helix (bHLH) PAS domain transcription factor expressed in multiple regions of the vertebrate brain. Targeted insertion of a beta-galactosidase reporter gene (lacZ) resulted in the production of an NPAS2-lacZ fusion protein and an altered form of NPAS2 lacking the bHLH domain. The neuroanatomical expression pattern of NPAS2-lacZ was temporally and spatially coincident with formation of the mature frontal association/limbic forebrain pathway. NPAS2-deficient mice were subjected to a series of behavioral tests and were found to exhibit deficits in the long-term memory arm of the cued and contextual fear task. Thus, NPAS2 may serve a dedicated regulatory role in the acquisition of specific types of memory.
...
PMID:Impaired cued and contextual memory in NPAS2-deficient mice. 1086 74

In an attempt to develop gene therapy for lung diseases, we have explored a closed-circuit surgical perfusion method for gene transfer into the lung. For gene transfer we used a replication defective type 5 adenovirus carrying the E. coli beta-galactosidase gene as a reporter gene. The middle lobe of the right lung of eight young farm pigs was perfused in vivo via thoracotomy for up to 60 min with the viral solution. The gene transfer was performed using a closed-circuit organ perfusion method in vivo. The efficiency of gene transfer was assessed visually by analysis of histologic sections after X-gal, PAS and immunohistochemical stainings. The lung perfusion resulted in transgene expression in the alveolar epithelial cells, capillary endothelial cells, airway epithelial cells and alveolar macrophages of the lung examined seven days after perfusion. The present results suggest that operatively performed closed-circuit warm lung perfusion method may be used for gene transfer in treatment of diseases that have pulmonary manifestations.
...
PMID:Closed-circuit organ perfusion technique for gene transfer into the lungs. An experimental trial on farm pigs. 1126 56

In an attempt to develop a gene therapy method for splenic and systemic diseases, an evaluation was made of surgical methods for gene transfer into porcine spleen. We have developed a continuous closed-circuit organ perfusion method for gene transfer into porcine spleen. For gene transfer, we used a type-5 replication defective adenovirus vector expressing the E. coli beta-galactosidase gene as a reporter gene. In eight young 22-35 kg farm pigs, the spleen was perfused in vivo with the viral solution via laparotomy, for 30 or 60 min. Gene transfer was determined visually on histological cryosections after X-gal and PAS staining. Infusion of the viral solution through the splenic artery did not result in gene expression. Perfusion of spleen in vivo resulted in beta-galactosidase reporter gene expression in the macrophages located around capillaries terminating in the perifollicular zone and in the red pulp examined after four days. The present results suggest that the surgically performed spleen perfusion method can be used for gene transfer in the treatment of diseases having splenic manifestations and in systemic diseases.
...
PMID:Surgical organ perfusion method for gene transfer into cells of the perifollicular area of the spleen: an experimental trial on farm pigs. 1146 43

Exposure to the environmental contaminant dioxin, elicits a variety of responses, which includes tumor promotion, embryotoxicity/teratogenesis, and carcinogenesis in both animals and humans. Many of the effects of dioxin are mediated by the aryl hydrocarbon receptor (AHR), a ligand-activated bHLH (basic helix-loop-helix)/PAS transcription factor. We initiated this study to determine whether dioxin's tumor-promoting activities may lie in its ability to alter proliferation, differentiation, and/or senescence using normal human epidermal keratinocytes (HEKs). Here, we report that dioxin appears to accelerate differentiation as measured by flow cytometry and by increased expression of the differentiation markers involucrin and filaggrin. In addition, dioxin appears to increase proliferation as indicated by an increase in NADH/NADPH production and changes in cell cycle. Finally, dioxin decreases SA (senescence associated) beta-galactosidase staining, an indicator of senescence, in the differentiating keratinocytes. These changes were accompanied by decreases in the expression levels of key cell cycle regulatory proteins p53, p16INK4a, and p14ARF. Our findings support the idea that dioxin may exert its tumor-promoting actions, in part, by downregulating the expression levels of key tumor suppressor proteins, which may impair the cell's ability to maintain its appropriate cellular status.
...
PMID:Alteration of keratinocyte differentiation and senescence by the tumor promoter dioxin. 1455 Jul 47


1 2 Next >>

---