Results 241 to 250 of about 51,551 (285)

Mouse models of hypoxanthine phosphoribosyltransferase deficiency

Journal of Inherited Metabolic Disease, 1992
SummaryLesch‐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, M L, Hooper, D W, Melton   +2 more
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Human hypoxanthine phosphoribosyltransferase. Purification and properties

Biochemistry, 1977
Hypoxanthine 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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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

Annals of Internal Medicine, 1969
Excerpt 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, M L, Greene, F M, Rosenbloom, J F, Henderson, J E, Seegmiller   +4 more
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Hypoxanthine Phosphoribosyltransferase and Hypoxanthine Uptake in Human Erythrocytes

Hoppe-Seyler´s Zeitschrift für physiologische Chemie, 1975
A 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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Human brain hypoxanthine guanine phosphoribosyltransferase: Structural and functional comparison with erythrocyte hypoxanthine guanine phosphoribosyltransferase

International Journal of Biochemistry, 1986
A rapid and simple method, based on GMP Sepharose affinity chromatography, was used for the purification of human brain hypoxanthine guanine phosphoribosyltransferase. A single protein band was detected by polyacrylamide gel electrophoresis of the native purified enzyme. A subunit molecular weight of 25,000 was estimated by SDS gel electrophoresis. The
K, Ikeda, H, Suzuki, S, Nakagawa
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Immunoadsorbent Chromatography of Hypoxanthine-Guanine Phosphoribosyltransferase

1974
Recent evidence indicates that the virtual absence of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) in patients with the Lesch-Nyhan syndrome is due in most if not all instances to a mutation(s) on the gene coding for the HGPRT protein (Kelley and Meade, 1971; Rubin, et al., 1971; Arnold, Meade and Kelley, 1972).
W J, Arnold, R B, Jones, W N, Kelley
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The Spectrum of Hypoxanthine-guanine Phosphoribosyltransferase Deficiency

QJM: An International Journal of Medicine, 1973
The 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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Hypoxanthine: Guanine phosphoribosyltransferase mutants in Saccharomyces cerevisiae

Molecular and General Genetics MGG, 1983
Yeast mutants lacking activity of the enzyme hypoxanthine:guanine phosphoribosyltransferase (H:G-PRT) have been isolated by selecting for resistance to 8-azaguanine in a strain carrying the wild type allele, ade4%, of the gene coding for amidophosphoribosyltransferase (PRPPAT), the first enzyme of de novo purine synthesis.
R A, Woods, D G, Roberts, T, Friedman, D, Jolly, D, Filpula   +4 more
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Hypoxanthine-guanine phosphoribosyltransferase: A simple spectrophotometric assay

Clinica Chimica Acta, 1977
A simple spectrophotometric assay is described based on the conversion of hypoxanthine to inosine monophosphate and precipitation of both the reaction product and protein with lanthanum phosphate. The extent of conversion is determined by the fall in absorbance of hypoxanthine at 249 nm.
Johnson L.A., Gordon R.B., Emmerson B.T.
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A spectrophotometric assay for hypoxanthine-guanine phosphoribosyltransferase

Analytical Biochemistry, 1971
Abstract 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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