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Mutations in purine nucleoside phosphorylase deficiency

Human Mutation, 1997
Purine nucleoside phosphorylase deficiency is an inherited disease of purine metabolism characterized clinically as combined immunodeficiency. The molecular defects have been published for 4 different alleles in 3 patients. We report four new mutations including two amino acid substitutions, A174P and G190V, a single codon deletion, delta I129, and a ...
Harold R. Collard   +9 more
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Purine nucleoside phosphorylase of chicken liver

Biochimica et Biophysica Acta (BBA) - Enzymology, 1971
Abstract Purine nucleoside phosphorylase (purine nucleoside:orthophosphate ribosyltransferase, EC 2.4.2.1) has been purified 125-fold from the homogenate of chicken livers and some of the properties of the purified enzyme have been studied. This enzyme had a pH optimum at around 6.o. At high substrate levels of inosine the reaction rate was increased,
Keizo Tsushima   +2 more
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Characterization of purine nucleoside phosphorylase in leukemia

American Journal of Hematology, 1986
AbstractPurine nucleoside phosphorylase (PNP) activity was determined in mononuclear cells from 49 patients with various types of leukemia. A low level of PNP activity was found in mononuclear cells from patients with acute myeloid and lymphoblastic leukemia and with chronic lymphocytic leukemia. Enzymatic and immunological studies on PNP from leukemic
Naomi Horiuchi   +3 more
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Adenine as Substrate for Purine Nucleoside Phosphorylase

Canadian Journal of Biochemistry, 1971
Purine nucleoside phosphorylase (purine-nucleoside:orthophosphate ribosyltransferase, EC 2.4.2.1) from four sources (rat liver and brain, human erythrocytes, and calf spleen) has been shown to exhibit a low intrinsic activity towards adenine in the presence of ribose 1-phosphate.
R. P. Miech   +3 more
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Allosteric regulation of purine nucleoside phosphorylase

Archives of Biochemistry and Biophysics, 1991
Purine nucleoside phosphorylase (EC 2.4.2.1) from bovine spleen is allosterically regulated. With the substrate inosine the enzyme displayed complex kinetics: positive cooperativity vs inosine when this substrate was close to physiological concentrations, negative cooperativity at inosine concentrations greater than 60 microM, and substrate inhibition ...
Patricia A. Ropp, Thomas W. Traut
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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.
David A. Tam, Robert T. Leshner
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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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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   +6 more
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Design of Purine Nucleoside Phosphorylase Inhibitors

2018
Purine nucleoside phosphorylase inhibitors hold promise as specific immunosuppressive, anti-T cell leukemic, and antiuricopoietic agents. The best inhibitors available that are biologically active have Ki values from 10(-6) to 10(-7) M and fall into two categories: noncleavable nucleosides preferably iodinated at the C-5' position and C-8-substituted ...
Y. Sudhakara Babu   +9 more
openaire   +3 more sources

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