Next-generation sequencing has enabled precision therapeutic approaches that have improved the lives of children with rare diseases. Congenital diarrhea and enteropathies (CODEs) are associated ...

Although many of the crystals that living creatures produce inside their cells are comprised of just two molecules – guanine and hypoxanthine – the resultant diversity is mind-boggling in ...

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 ...

The patients are deficient in hypoxanthine-guanine phosphoribosyltransferase, which converts hypoxanthine to inosinic acid, a major precursor of adenine and guanine nucleotides. Paradoxically, the ...

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 ...

Screening of compounds comprising 8-substituted guanine revealed that 8-aminoguanosine and 8-aminoguanine cause diuresis/natriuresis/glucosuria, yet decrease ...

Instead, their junction regions showed pronounced guanine and cytosine bias and elevated mutation frequency at G:C contexts. Elevated mutation frequency at G:C bases in relevant introns predicted ...

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