Results 211 to 220 of about 33,169 (270)
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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
New England Journal of Medicine, 1983A DEFICIENCY in the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) is associated with two clinical syndromes.
Jeffrey S. Flier +4 more
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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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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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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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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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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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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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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
openaire +2 more sources