AF6 denotes afadin, GAP GTPase-activating protein, GEF guanine exchange factor, MEK mitogen-activated protein kinase kinase, MT mutant, Pi inorganic phosphate, P13K phosphoinositide 3-kinase ...

Edited by Susan G. Amara, University of Pittsburgh School of Medicine, Pittsburgh, PA, and approved January 19, 2012 (received for review November 3, 2011) Our present study on the effect of HPRT ...

The phosphoribosyltransferases (PRTases) are involved in purine, pyrimidine and amino acid synthesis 3. Structures of several type I PRTases reveal a common α/β-fold called the PRPP motif and ...

The condition occurs due to issues with the enzyme known as hypoxanthine-guanine phosphoribosyltransferase (HPRT), which results in the accumulation of uric acid. Lesch-Nyhan syndrome is an X ...

Background Early-onset or juvenile gout (EOG) without hypoxanthine-guanine phosphoribosyltransferase enzyme deficiency (HPRT, OMIM 300323) and not related to familial juvenile hyperuricemic ...

The enzyme is called “hypoxanthine-guanine phosphoribosyltransferase” or “HPRT.” The absence of the HPRT enzyme causes multiple difficulties. Children with Lesch-Nyhan syndrome can’t ...

Bader, J.S. and Friedmann, T. (2013) The Housekeeping Gene Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Regulates Multiple Developmental and Metabolic Pathways of Murine Embryonic Stem Cell ...

Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with ...

Adenosine, acting both through G-protein coupled adenosine receptors and intracellularly, plays a complex role in multiple physiological and pathophysiological processes by modulating neuronal ...

In addition to the nucleobase GUA, a key role seems to be played by GUA-generating (PNP) and GUA-removing (GDA, Hypoxanthine Guanine Phosphoribosyltransferase-HGPRT) enzymes. PNP converts GUO into GUA ...