Results 171 to 180 of about 13,983 (221)
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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   +4 more
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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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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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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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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   +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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Hypoxanthine, Guanine, Xanthine Phosphoribosyltransferase Activity inCryptosporidium parvum

Experimental Parasitology, 1998
All parasitic protozoa examined to date are incapable of de novo synthesis of purine nucleotides and rely on salvage mechanisms for survival. We have identified hypoxanthine, guanine, xanthine phosphoribosyl-transferase activities in crude cell-free extracts of Cryptosporidium sporulated oocysts utilizing radiolabeled substrates. Guanine, hypoxanthine,
P S, Doyle, J, Kanaani, C C, Wang
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Genetic Analysis of Human Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Enzyme, 1987
Hypoxanthine-guanine phosphoribosyltransferase (HPRT; IMP: pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) functions in the purine-metabolic salvage pathway. Two clinical syndromes are associated with a deficiency in HPRT enzyme activity. Virtually complete deficiency leads to the Lesch-Nyhan syndrome, whereas partial deficiency results in ...
L J, Silverman   +2 more
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Clinical correlations in partial hypoxanthine guanine phosphoribosyltransferase deficiency

Pediatric Neurology, 1986
Erythrocyte assays for hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity performed on two male half-siblings with hyperuricemia, produced results consistent with classic Lesch-Nyhan syndrome. Due to the absence of neurologic abnormalities, cognitive deficits, or self-mutilation, HGPRT activity was measured by intact fibroblast assay which
J H, Hersh   +5 more
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