Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy [PDF]
Background:Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches that ...
Aartsma-Rus +50 more
core +1 more source
Hypoxanthine-guanine phosphoribosyltransferase 1 (HPRT1) is a common housekeeping gene for sample normalization in the quantitative reverse transcriptase polymerase chain (qRT-PCR).
Reza Valadan +6 more
doaj +1 more source
Concentration and synthesis of phosphoribosylpyrophosphate in erythrocytes from normal, hyperuricemic, and gouty subjects. [PDF]
Phosphoribosylpyrophosphate (PRPP) synthetase activity and the intracellular concentration of PRPP were assayed in erythrocytes from patients with primary hyperuricemia and primary metabolic gout.
Meyskens, FL, Williams, HE
core
The investigation of the structure–function relationship in hypoxanthine-guanine phosphoribosyltransferases (HGPRT) is a direction that is relevant for the development of drugs and approaches of enzymatic synthesis of modified nucleosides and nucleotides.
Evgeniy A. Zayats +12 more
doaj +1 more source
Perfecting a high hypoxanthine phosphoribosyltransferase activity-uricase KO mice to test the effects of purine- and non-purine-type xanthine dehydrogenase (XDH) inhibitors. [PDF]
Hosoya T +4 more
europepmc +1 more source
Human Hypoxanthine Phosphoribosyltransferase
T A Krenitsky, R Papaioannou, G B Elion
openaire +2 more sources
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series
Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency.
Hung-Hsiang Fang +9 more
doaj +1 more source
Hypoxanthine-Guanine Phosphoribosyltransferase Variant Associated with Accelerated Purine Synthesis [PDF]
Paul J. Benke +2 more
openalex +1 more source
Differential Localization of Alternatively Spliced Hypoxanthine-Xanthine-Guanine Phosphoribosyltransferase Isoforms in Toxoplasma gondii [PDF]
Kshitiz Chaudhary +5 more
openalex +1 more source
Molecular analysis of hypoxanthine guanine phosphoribosyltransferase (HPRT) gene in five Korean families with Lesch-Nyhan syndrome [PDF]
K J Kim +8 more
openalex +1 more source

