tay-sachs disease/phosphatase

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FINE STRUCTURAL LOCALIZATION OF ACID PHOSPHATASE ACTIVITY IN NEURONS OF TAY-SACHS DISEASE.

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Generation of HEXA-deficient hiPSCs from fibroblasts of a Tay-Sachs disease patient.

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Human iPSC line TSD-01-hiPSC was generated from fibroblasts of a patient with infantile Tay-Sachs disease (TSD). The patient is compound heterozygous at the HEXA gene by carrying a 1278insTATC allele and an IVS12+1G>C allele. STEMCCA lentivirus, which expresses OCT4, SOX2, KLF4, and c-MYC from a

Tay-Sachs disease and normal cerebellar cells in culture: elevated levels of lysosomal enzymes in Tay-Sachs disease cells.

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Tay-Sachs disease and normal fetal cerebellar cells were maintained in culture for up to four weeks. Elevated levels of the lysosomal enzymes hexosaminidase B, beta-galactosidase, and acid phosphatase were observed in the Tay-Sachs cells in long term cultures although elevated lysosomal enzyme

Rapid nonradioactive tracer method for detecting carriers of the major Ashkenazi Jewish Tay-Sachs disease mutations.

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Tay-Sachs disease (TSD, GM2 gangliosidosis, Type I) is an autosomal recessive lysosomal storage disease caused by deficiency of beta-hexosaminidase A (Hex A) resulting from mutations in the gene (HEXA) encoding the alpha-subunit of the enzyme. Three mutations, in exons 7 and 11 and at the exon

The β4 subunit of the voltage-gated calcium channel (Cacnb4) regulates the rate of cell proliferation in Chinese Hamster Ovary cells.

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The β subunits of Voltage-Gated Calcium Channel (VGCC) are cytosolic proteins that interact with the VGCC pore -forming subunit and participate in the trafficking of the channel to the cell membrane and in ion influx regulation. β subunits also exert functions independently of their binding to VGCC

Lysosomal arylsulfatases of human leukocytes: increment of phosphorylated B variants in chronic myelogenous leukemia.

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Lysosomal arylsulfatases A and B of peripheral leukocytes from patients with chronic myelogenous leukemia and from healthy subjects were studied. Two enzyme activities of leukemia cells were significantly higher than those of cells from healthy subjects, irrespective of total and differential counts

Arylsulfatases of human-lung tumors transplanted into athymic mice. Cancer-associated modification of arylsulfatase B variant.

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The activities and properties of arylsulfatase A and B from human lung carcinoma transplanted into athymic mice were demonstrated. The activities of arylsulfatase A and B from transplanted carcinomas with four histological types were more than twofold higher as compared to those from surgical

Plasma acid hydrolases in normal adults and children, and in patients with some lysosomal storage diseases.

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Optimal assay conditions are described for plasma alpha-galactosidase, beta-glactosidase, beta-glucuronidase, alpha-mannosidase, alpha-glucosidase, N-acetyl-beta-glucosaminidase, alpha-fucosidase, N-acetyl-alpha-glucosaminidase, acid phosphatase and arylsulphatase A. The levels of these activities

Enzymes in amniotic fluid.

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The determination of enzyme levels in cell-free amniotic fluid has proven useful in assessing fetal maturity and fetal well being, and is being utilized for the prenatal diagnosis of genetic disorders. The activities of amylase, alpha-galactosidase, phosphatidic acid phosphohydrolase, lysozyme and

Lipid storage disease: Part III. Ultrastructural evaluation of cultured fibroblasts in sphingolipidoses.

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For the purpose of evaluating electron microscopy of tissue culture in making the diagnosis of sphingolipidoses, an ultrastructural study was made on the cultured fibroblasts from 23 patients with the disorders. The characteristic cytoplasmic inclusions were observed in the cultured cells of Fabry

Sleep deprivation impairs spatial memory and decreases extracellular signal-regulated kinase phosphorylation in the hippocampus.

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Loss of sleep may result in memory impairment. However, little is known about the biochemical basis for memory deficits induced by sleep deprivation. Extracellular signal-regulated kinase (ERK) is involved in memory consolidation in different tasks. Phosphorylation of ERK is necessary for its

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