Results 121 to 130 of about 6,269 (168)

Stroke in purine nucleoside phosphorylase deficiency

Pediatric Neurology, 1995
The first documented case of cerebrovascular disease occurring in a 13-year-old girl with purine nucleoside phosphorylase deficiency is reported. This patient, the oldest known survivor with purine nucleoside phosphorylase deficiency, had previously experienced multiple sequential neurologic problems.
D A, Tam, R T, Leshner
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Prenatal exclusion of purine nucleoside phosphorylase deficiency

European Journal of Pediatrics, 1986
We report on the prenatal exclusion of purine nucleoside phosphorylase (PNP) deficiency in a fetus whose parents were known to be heterozygotes for the enzyme defect. Prenatal investigation was performed in the 16th week of gestation on amniotic fluid and cultured amnion cells using sensitive techniques.
E. Carapella De Luca, STEGAGNO, MICHELE, C. Dionisi Vici, PAESANO, Rosalba, L. D. Fairbanks, G. S. Morris, H. A. Simmonds   +6 more
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LINGCOD MUSCLE PURINE NUCLEOSIDE PHOSPHORYLASE

Canadian Journal of Biochemistry and Physiology, 1958
A purine nucleoside phosphorylase enzyme preparation, which catalyzed the general reaction ribose (deoxyribose) [Formula: see text] nucleoside (deoxynucleoside)+orthophosphate, was isolated from muscles of the lingcod (Ophiodon elongatus). The reaction was found to be about 85% in favor of nucleoside synthesis with 10 μM./ml.
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Purine nucleoside phosphorylase from bovine liver

Comparative Biochemistry and Physiology Part B: Comparative Biochemistry, 1978
1. Purine nucleoside phosphorylase (purine nucleoside:orthophosphate ribosyltransferase, E.C. 2.4.2.1) from liver of cattle, Bos taurus, was purified to homogeneity. Some properties of the enzymes from three different bovine tissues were compared and discussed. 2.
Z, Ikezawa, T, Nishino, K, Murakami, K, Tsushima   +3 more
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A new ultramicrochemical assay for purine nucleoside phosphorylase

Analytical Biochemistry, 1978
Abstract An ultramicrochemical method using radioactive substrates has been developed for the quantitation of purine nucleoside phosphorylase (NP) activity in single cells. NP activity can reproducibly be measured in both directions of the enzyme reaction. A quantitative relationship between the number of cells incubated and the NP activity was found.
M P, Uitendaal, C H, De Bruyn, T L, Oei, P, Hösli, C, Griscelli   +4 more
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Purine Nucleoside Phosphorylase. 2. Catalytic Mechanism

Biochemistry, 1997
X-ray crystallography, molecular modeling, and site-directed mutagenesis were used to delineate the catalytic mechanism of purine nucleoside phosphorylase (PNP). PNP catalyzes the reversible phosphorolysis of purine nucleosides to the corresponding purine base and ribose 1-phosphate using a substrate-assisted catalytic mechanism.
M D, Erion, J D, Stoeckler, W C, Guida, R L, Walter, S E, Ealick   +4 more
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FISH-MUSCLE PURINE AND PYRIMIDINE NUCLEOSIDE PHOSPHORYLASES

Canadian Journal of Biochemistry, 1967
Three purine nucleoside phosphorylase preparations (isoenzymes) were obtained by ammonium sulfate fractionation and DEAE-cellulose chromatography of aqueous extracts of lingcod muscle. Dialysis, adsorption on alumina Cγ, and elution with 0.4 M phosphate buffer yielded further purification.
H L, Tarr, J E, Roy
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Purine Nucleoside Phosphorylase Deficiency: A Mutation Update

Nucleosides, Nucleotides and Nucleic Acids, 2011
Purine nucleoside phosphorylase (PNPase) deficiency is an autosomal recessive disorder affecting purine degradation and salvage pathways. Clinically, patients typically present with severe immunodeficiency, neurological dysfunction, and autoimmunity. Biochemically, PNPase deficiency may be suspected in the presence of hypouricemia.
P L C, Walker, Adele, Corrigan, Monica, Arenas, Emilia, Escuredo, Lynette, Fairbanks, Anthony, Marinaki   +5 more
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Genetic Variability of Purine Nucleoside Phosphorylase in the Mouse

1984
The inherited human deficiency of purine nucleoside phosphorylase is associated primarily with cellular immune dysfunction1. We have begun to screen for quantitative activity variants of purine nucleoside phosphorylase in Mus musculus in attempts to establish an animal model for the enzyme deficiencies associated with immunodeficiency disease.
F F, Snyder, F G, Biddle, T, Lukey, M J, Sparling   +3 more
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16 Purine Nucleoside Phosphorylase

1972
Publisher Summary This chapter focuses on purine nucleoside phosphorylases (PNPases), which are widely distributed in nature and have been identified and studied in a number of tissues in mammals, chickens, fish, yeast, and in several species of bacteria. In the erythrocytes of dogs, the activity of PNPase is remarkably low when compared with the red
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