Results 131 to 140 of about 24,062 (183)
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Facilitated Purification of Hypoxanthine Phosphoribosyltransferase
Hoppe-Seyler´s Zeitschrift für physiologische Chemie, 1976Three major approaches to the complete purification of hypoxanthine phosphoribosyltransferase from human erythrocytes and rat brain are described. Preparative isoelectric focusing which has been used for the isolation of the human enzyme was not fully successful in the case of rat brain.
W, Gutensohn, M, Huber, H, Jahn
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Transformation of the gene for hypoxanthine phosphoribosyltransferase
Somatic Cell Genetics, 1979Purified DNA from wild-type Chinese ovary (CHO) cells has been used to transform three hypoxanthine phosphoribosyltransferase (HPRT) deficient murine cell mutants to the enzyme positive state. Transformants appeared at an overall frequency of 5 x 10(-8) colonies/treated cell and expressed CHO HPRT activity as determined by electrophoresis.
L H, Graf, G, Urlaub, L A, Chasin
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The Spectrum of Hypoxanthine-guanine Phosphoribosyltransferase Deficiency
QJM: An International Journal of Medicine, 1973The spectrum of clinical manifestations of hypoxanthine-guanine phosphoribosyltransferase (HGPRTase) deficiency is presented by reference to eight patients from five kindred. These patients illustrate the range of associated neurological findings, together with the variety of presentation and complications due to the associated over-production of urate.
Emmerson, B. T., Thompson, L.
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Mouse models of hypoxanthine phosphoribosyltransferase deficiency
Journal of Inherited Metabolic Disease, 1992SummaryLesch‐Nyhan syndrome is an X‐linked disease caused by the deficiency of hypoxanthine phosphoribosyltransferase, an enzyme involved in the purine salvage pathways. It is characterized by severe gout, choreoathetosis, self‐mutilatory behaviour and mental retardation. The derivation of mice genetically deficient in this enzyme may help to elucidate
D J, Williamson +2 more
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Human hypoxanthine phosphoribosyltransferase. Purification and properties
Biochemistry, 1977Hypoxanthine phosphoribosyltransferase (IMP:pryophosphate phosphoribosyltransferase, EC 2.4.2.8) from human erythrocytes has been purified 13 000-fold to apparent homogeneity. The native enzyme has a sedimentation coefficient of 5.9 S, determined by analytical ultracentrifugation, and a molecular weight of 81 000-83 000, determined by sedimentation ...
A S, Olsen, G, Milman
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Unapparent hypoxanthine-guanine phosphoribosyltransferase deficiency
Clinica Chimica Acta, 2017Complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity causes Lesch Nyhan disease (LND), characterized by hyperuricemia, severe action dystonia, choreoathetosis, ballismus, cognitive and attention deficit and self-injurious behavior.
R J, Torres +3 more
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A spectrophotometric assay for hypoxanthine-guanine phosphoribosyltransferase
Analytical Biochemistry, 1971Abstract The present paper describes a new spectrophotometric assay for HGPRTase activity which is more rapid than and as sensitive as the isotopic assays for this enzyme and which avoids the use of high-voltage electrophoresis and liquid scintillation counting. A simple technique using thin-layer chromatography for the separation of the nucleotide,
D S, Newcombe, J M, Willard
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Hypoxanthine Phosphoribosyltransferase and Hypoxanthine Uptake in Human Erythrocytes
Hoppe-Seyler´s Zeitschrift für physiologische Chemie, 1975A system of hypoxanthine uptake and IMP retention was studied and characterized in human erythrocytes. It follows closely the system already described for rabbit erythrocytes[7]. IMP formation and retention are dependent on the activity of hypoxanthine phosphoribosyl-transferase and on intracellular availability of phosphoribosyl pyrophosphate (P-Rib ...
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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout
Annals of Internal Medicine, 1969Excerpt INTRODUCTION Sophisticated biochemical studies in recent years have revealed that the regulation of intracellular metabolism is a logical, orderly, and intricate process.
W N, Kelley +4 more
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