Deficiency of the housekeeping gene hypoxanthine-guanine phosphoribosyltransferase (HPRT) dysregulates neurogenesis. [PDF]
Neuronal transcription factors play vital roles in the specification and development of neurons, including dopaminergic (DA) neurons. Mutations in the gene encoding the purine biosynthetic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT ...
Guibinga GH, Hsu S, Friedmann T.
europepmc +2 more sources
Human hypoxanthine-guanine phosphoribosyltransferase. Evidence for tetrameric structure.
Hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) has been purified 23,000-fold from normal human erythrocytes. The purification includes affinity chromatography on a GMP column. The subunit molecular weight of the enzyme obtained from this purification is 24,000.
J A Holden, William N. Kelley
openalex +4 more sources
Structures of hypoxanthine-guanine phosphoribosyltransferase (TTHA0220) from Thermus thermophilus HB8. [PDF]
Hypoxanthine-guanine phosphoribosyltransferase (HGPRTase), which is a key enzyme in the purine-salvage pathway, catalyzes the synthesis of IMP or GMP from alpha-D-phosphoribosyl-1-pyrophosphate and hypoxanthine or guanine, respectively.
Kanagawa M+9 more
europepmc +2 more sources
Metabolic constraint of human telomere length by nucleotide salvage efficiency [PDF]
Human telomere length is tightly regulated and associated with diseases at either extreme, but how these bounds are established remains incompletely understood.
William Mannherz+3 more
doaj +2 more sources
Transcriptomic and Metabolomic Analysis Reveals the Impact of Autophagy Regulation on Purine Content in Mutton [PDF]
Background: Excessive purine intake increases the risk of hyperuricemia and gout. This study investigates the relationship between purine content in mutton and meat quality traits and explores the regulatory mechanism of purine metabolism through ...
Xu Han+8 more
doaj +2 more sources
Chinese Hamster Hypoxanthine-Guanine Phosphoribosyltransferase
Abstract Hypoxanthine-guanine phosphoribosyltransferase from Chinese hamster brain, liver, and V79 tissue culture cells appears to have identical structural and catalytic properties. The enzyme has been purified 540-fold to apparent homogeneity from Chinese hamster brain.
Anne S. Olsen, Gregory Milman
openalex +4 more sources
Human Hypoxanthine-Guanine Phosphoribosyltransferase
Abstract Hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) has been purified to homogeneity from human erythrocytes obtained from one male donor. The normal human enzyme has a Stokes radius of 36 A with a molecular weight of 68,000 and is composed of two subunits which have identical molecular weight and net charge.
William J. Arnold, William N. Kelley
openalex +4 more sources
Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series [PDF]
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 +2 more sources
Studies of an unusually basic hypoxanthine-guanine phosphoribosyltransferase.
Hypoxanthine-guanine phosphoribosyltransferase (EC 2.4.2.8) from beef brain has been purified 3100-fold to apparent homogeneity using a purification procedure based on GMP-Sepharose affinity chromatography. The native enzyme has a molecular weight of 84,000 as determined by gel filtration studies.
Valerie A. Paulus+3 more
openalex +4 more sources
Converting the Guanine Phosphoribosyltransferase from Giardia lamblia to a Hypoxanthine-guanine Phosphoribosyltransferase [PDF]
Guanine phosphoribosyltransferase from Giardia lamblia, a key enzyme in the purine salvage pathway, is a potential target for anti-giardiasis chemotherapy. Recent structural determination of GPRTase (Shi, W., Munagala, N. R., Wang, C. C., Li, C. M., Tyler, P. C., Furneaux, R. H., Grubmeyer, C., Schramm, V. L., and Almo, S. C.
Narsimha R. Munagala+2 more
openalex +5 more sources