Results 251 to 260 of about 51,551 (285)
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Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

New England Journal of Medicine, 1983
A DEFICIENCY in the enzyme hypoxanthineguanine phosphoribosyltransferase (HPRT) is associated with two clinical syndromes.
Jeffrey S. Flier   +4 more
openaire   +2 more sources

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
openaire   +2 more sources

Transport of hypoxanthine in fibroblasts with normal and mutant hypoxanthine-guanine phosphoribosyltransferase

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.
P J, Benke, N, Herrick, A, Herbert
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 more sources

Purification of hypoxanthine-guanine phosphoribosyltransferase of Plasmodium lophurae

Molecular and Biochemical Parasitology, 1987
Hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) was isolated from the malarial parasite, Plasmodium lophurae. The apparent pI, as determined by chromatofocusing, was 7.6. The native molecular weight was 79,000. The pH profile of HGPRT exhibited a broad pH optimum. With hypoxanthine as substrate maximal activity was achieved from pH 6.0-10.0,
C M, Schimandle, L A, Mole, I W, Sherman
openaire   +2 more sources

Rapid detection of hypoxanthine-guanine phosphoribosyltransferase on cellogel

Humangenetik, 1974
A simple, fast and direct staining method for the detection of hypoxanthineguanine phosphoribosyltransferase is described. It is based on the conversion of inosine monophosphate to hypoxanthine, which is then enzymatically oxidized. This oxidation is coupled to the reduction of a tetrazolium salt to blue formazan.
Someren, H. van   +2 more
openaire   +3 more sources

Properties of Erythrocyte Purine Phosphoribosyltransferases in Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

1974
Partial deficiency of HGPRT, a salvage enzyme of purine metabolism, has been demonstrated to be the primary abnormality causing purine overproduction in a small proportion of patients with gout (1–4). The quantitative deviation in the activity of this enzyme has been shown by Kelley et al.
O, Sperling, P, Boer, A, De Vries
openaire   +2 more sources

Evidence for tetrameric structure of mammalian hypoxanthine phosphoribosyltransferase

Biochemical Genetics, 1987
A fast electrophoretic variant of hypoxanthine phosphoribosyltransferase (HPRT) has been detected in Mus musculus bactrianus, a mouse subspecies from Middle Asia (USSR). The electrophoretic HPRT pattern yielded by hybrids between the somatic cell of LMTK- (deficient in thymidine kinase) and the splenocytes of a male of M. m. bactrianus was five-banded.
M N, Bochkarev   +5 more
openaire   +2 more sources

Human Hypoxanthine-Guanine Phosphoribosyltransferase (HGPRT): Purification and Properties

1974
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (E.C. 2.4.2.8.) catalyzes the formation of guanosine-5’-monophosphate and inosine-5’-monophosphate from 5’-phosphoribosyl-l-pyrophosphate (PPribose-P) and the purine bases guanine and hypoxanthine, respectively.
W J, Arnold, R V, Lamb, W N, Kelley
openaire   +2 more sources

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