Results 211 to 220 of about 14,819 (239)

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, Mary Jean Moore, James M. Wilson, Anne B. Young, William N. Kelley   +4 more
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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, W N, Kelley, T D, Palella   +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, T, Page, M E, Hand, J E, Seegmiller, W L, Nyhan, B, Weisskopf   +5 more
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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
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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, Beijersbergen van Henegouwen, H., Khan, P.M.   +2 more
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Hypoxanthine-guanine phosphoribosyltransferase from beef brain: A trimer

Biochemical and Biophysical Research Communications, 1980
Abstract Hypoxanthine-guanine phosphoribosyl isolated from beef brain was reacted with cross-linking reagents in order to establish the number of subunits that constitute the native protein. The results obtained from experiments with dimethyl-suberimidate and gluteraldehyde in the absence and in the presence of substrates all indicate that the native
V A, Paulus, A L, Bieber
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A continuous spectrophotometric assay for hypoxanthine-guanine phosphoribosyltransferase

Analytical Biochemistry, 1977
Abstract The present paper describes a simple and rapid spectrophotometric assay of hypoxanthine-guanine phosphoribosyltransferase based on the continuous monitoring of product concentration by a NADH-coupled enzyme system.
GIACOMELLO, Alessandro, SALERNO, Costantino   +1 more
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A rapid radiochemical assay for hypoxanthine-guanine phosphoribosyltransferase

Analytical Biochemistry, 1973
Abstract A simple radiochemical method is described for assay of hypoxanthine-guanine phosphoribosyltransferase. 14C-Hypoxanthine is incubated with enzyme PRPP. The labelled product is precipitated on strips of Whatman No. 1 paper by the addition of lanthanum nitrate. Unreacted substrate is eluted with distilled water.
M A, Schlossberg, V P, Hollander
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[Deficiencies of hypoxanthine guanine phosphoribosyltransferase (HPRT)].

Nihon rinsho. Japanese journal of clinical medicine, 2008
Inherited mutations of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8; MIM308000), give rise to Lesch-Nyhan syndrome (MIM300322) or HPRT-related gout called as Kelley-Seegmiller syndrome (MIM300323). In contrast with the most severe phenotype of classical Lesch-Nyhan disease (LND), the least severe phenotype ...
openaire   +2 more sources