Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P00492 (hypoxanthine-guanine phosphoribosyltransferase)
 2,385 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Phosphoribosylpyrophosphate in amounts as low as 25 pmol could be reliably and economically measured with a CO2-releasing radioenzymatic assay when appropriate technical modifications were introduced. The concentration of commercially available phosphoribosylpyrophosphate used for reference standards was ascertained by a method based on the utilization of phosphoribosylpyrophosphate by hypoxanthine catalyzed by hypoxanthine phosphoribosyltransferase from red blood cell lysates. The addition of inorganic phosphate increased intracellular phosphoribosylpyrophosphate levels in HL-60 cell lysates and can be used to amplify low levels of phosphoribosylpyrophosphate. This phosphoribosylpyrophosphate assay amplified by inorganic phosphate has been developed to assay perturbations in the purine biosynthetic nucleotide pathway in response to various chemotherapeutic agents, such as anti-folates, or as a result of folate deficiency.
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PMID:Modified phosphoribosylpyrophosphate (PRPP) radioenzymatic assay: increased sensitivity, technical simplification and new applications. 243 41

Three patients affected with the Lesch-Nyhan syndrome were found to have normal levels of immunoglobulins, normal numbers of circulating B and T cells and normal IgG secretion in vitro in response to polyclonal activators. However, when cultures were performed in the absence of a bicarbonate buffer system, the proliferative response to several T cell stimulants (phytohaemagglutinin, concanavalin A and streptokinase-streptodornase) was impaired in Lesch-Nyhan cells as judged from the incorporation of labelled thymidine, uridine and leucine. This situation could be abolished by incubation in a 5% CO2 atmosphere and even reversed by supplementation of bicarbonate to the culture medium. Blocking the de novo purine synthesis by Methotrexate resulted in a more pronounced inhibition of the mitogenic response in Lesch-Nyhan lymphocytes than in normal cells. The differences in proliferative response between normal and Lesch-Nyhan lymphocytes with regard to culture conditions point to the critical role of the de novo pathway in lymphocyte stimulation.
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PMID:Differential responses to mitogen stimulation in lymphocytes from normal individuals and Lesch-Nyhan patients: influence of the bicarbonate buffer system. 697 Jun 38