Results 221 to 230 of about 26,651 (230)
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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.
N. Fernandez-Garcia +3 more
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On the formation of an intermediate in the adenine phosphoribosyltransferase reaction
Biochemical and Biophysical Research Communications, 1971Summary Highly purified rat liver adenine phosphoribosyltransferase (EC 2.4. 2.7) exhibits an “initial burst” reaction in the presence of either PP-ribose-P or Mg-ADP indicating that the purified enzyme contains a bound phosphoribosyl group. The initial burst reaction was studied separately by inhibiting the overall reaction between PP-ribose-P and ...
D.P. Groth, L.G. Young
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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.
Martin L. Greene +4 more
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[60] Quinolinate phosphoribosyltransferase (pseudomonas)
1970Publisher Summary This chapter discusses the assay, purification, and properties of quinolinate phosphoribosyltransferase. The enzyme is assayed by measuring the cyanide adduct of one of the products, nicotinic acid mononucleotide. One activity unit is defined as that amount of enzyme required to catalyze the formation of 1 micromole of nicotinic ...
William B. Jakoby, Paul M. Packman
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Biochemical and Biophysical Research Communications, 1967
J. Frank Henderson +3 more
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J. Frank Henderson +3 more
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The Role of Phosphoribosyltransferases in Purine Metabolism
1970Publisher Summary This chapter discusses the role of phosphoribosyltransferases in purine metabolism. Its role in purine metabolism cannot be adequately described by their presumed function solely as salvage enzymes. The substrates or products of the phosphoribosyltransferase reactions are directly involved in a variety of different but ...
Kari O. Raivio, J. Edwin Seegmiller
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[10] Orotate phosphoribosyltransferase (yeast)
1978Publisher Summary This chapter describes the purification procedure of orotate phosphoribosyltransferase enzyme from yeast. The orotate phosphoribosyltransferase reaction can be assayed by coupling with orotidylate decarboxylase and following the conversion of orotidylate formed to uridine monophosphate (UMP) at 295 nm.
T. Amaya +3 more
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Febuxostat in Adenosine Phosphoribosyltransferase Deficiency
American Journal of Kidney Diseases, 2014openaire +2 more sources
[Adenine phosphoribosyltransferase deficiency].
Nihon rinsho. Japanese journal of clinical medicine, 1990openaire +2 more sources
Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
RCSB Protein Data Bank, 2012openaire +2 more sources