Title: Stabilization by PRPP of Cellular Purine Phosphoribosyltransferases Against Inactivation by Freezing and Thawing. Study of Normal and Hypoxanthine-Guanine Phosphoribosyltransferase Deficient Human Fibroblasts
Abstract: Hypoxanthine-guanine phosphoribosyltransferase (HGPRT, EC 2.4.2.8) and adenine phosphoribosyltransferase (APRT, EC 2.4.2.7) catalyze the salvage pathway formation of purine nucleotides from the corresponding preformed purine bases by reacting them with a common substrate, 5-phosphoribosyl-l-pyrophosphate (PRPP) (1,2). A deficiency of HGPRT in man causes excessive de novo production of purines. When the enzyme deficiency is virtually complete, it is associated with the Lesch-Nyhan syndrome (LNS) (3,4), when partial, it is associated with severe gout (5).
Publication Year: 1974
Publication Date: 1974-01-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
Access and Citation
Cited By Count: 3
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