Stabilization by PRPP of Cellular Purine Phosphoribosyltransferases Against Inactivation by Freezing and Thawing. Study of Normal and Hypoxanthine-Guanine Phosphoribosyltransferase Deficient Human Fibroblasts

  • E. Zoref
  • O. Sperling
  • A. de Vries
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 41A)


Hypoxanthine-guanine phosphoribosyltransferase (HGPRT, EC and adenine phosphoribosyltransferase (APRT, EC 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).


Thermal Inactivation Human Skin Fibroblast Enzyme Deficiency Common Substrate Purine Nucleotide 
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Copyright information

© Plenum Press, New York 1974

Authors and Affiliations

  • E. Zoref
    • 1
  • O. Sperling
    • 1
  • A. de Vries
    • 1
    • 2
  1. 1.Tel-Aviv University Medical School, Department of Pathological ChemistrySheba Medical CenterTel-HashomerIsrael
  2. 2.Rogoff-Wellcome Medical Research InstituteBeilinson HospitalPetah TikvaIsrael

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