Results 171 to 180 of about 13,871 (203)
Some of the next articles are maybe not open access.
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.
Marianne Huber +2 more
openaire +3 more sources
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.
openaire +3 more sources
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
M. L. Hooper +2 more
openaire +3 more sources
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.
N. Fernandez-Garcia +3 more
openaire +3 more sources
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 ...
Anne S. Olsen, Gregory Milman
openaire +3 more sources
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.
Martin L. Greene +4 more
openaire +3 more sources
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,
David S. Newcombe, James M. Willard
openaire +3 more sources
Biochemical Medicine, 1973
Abstract Hypoxanthine transport has been studied in cultured human fibroblasts with normal and mutant H-G PRT. Transport is dependent on cell density, the activity of H-G PRT, and de novo purine synthesis. Transport is decreased in control cultures at high density and in cell strains with a mutant H-G PRT.
Norma Herrick +2 more
openaire +3 more sources
Abstract Hypoxanthine transport has been studied in cultured human fibroblasts with normal and mutant H-G PRT. Transport is dependent on cell density, the activity of H-G PRT, and de novo purine synthesis. Transport is decreased in control cultures at high density and in cell strains with a mutant H-G PRT.
Norma Herrick +2 more
openaire +3 more sources
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 ...
openaire +3 more sources
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
Shigeki Nakagawa +3 more
openaire +3 more sources
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
Shigeki Nakagawa +3 more
openaire +3 more sources