Human hypoxanthine-guanine phosphoribosyltransferase.
Journal of Biological Chemistry, 1983 A mutant form of human hypoxanthine-guanine phosphoribosyltransferase (HPRTToronto) was isolated from erythrocytes of a male patient with gout due to a partial deficiency of enzyme activity. The tryptic peptides of HPRTToronto were mapped by reverse-phase high pressure liquid chromatography in an attempt to define the precise abnormality in its primary
J M, Wilson +3 more
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Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase
Journal of Biological Chemistry, 1968 Abstract The mechanism of reaction of human erythrocyte hypoxanthine-guanine phosphoribosyltransferase was investigated by initial velocity, product inhibition, and isotope exchange studies. Although initial velocity data are compatible with a mechanism involving binary enzyme-substrate complexes, the product inhibition and isotope exchange studies ...
J F, Henderson +4 more
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Epigenetic modulation of human neurobiological disorders: Lesch-Nyhan disease as a model disorder [PDF]
AIMS NeuroscienceEpigenetics is the study of how cells control gene activity without changing the DNA sequence. Epigenetic changes affect how genes are turned on and off or expressed, and thus help regulate how cells in different parts of the body use the same genetic ...
Khue Vu Nguyen
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Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells [PDF]
Molecular Therapy: Nucleic Acids, 2016 Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Patrick C Lee +14 more
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Hypoxanthine-Guanine Phosphoribosyltransferase [PDF]
, 2020 National Cancer Institute
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Hypoxanthine-guanine phosphoribosyltransferase and inosine 5’-monophosphate dehydrogenase activities in three mammalian species: aquatic (Mirounga angustirostris), semiaquatic (Lontra longicaudis annectens) and terrestrial (Sus scrofa) [PDF]
Frontiers in Physiology, 2015 Aquatic and semiaquatic mammals have the capacity of breath hold (apnea) diving. Northern elephant seals (Mirounga angustirostris) have the ability to perform deep and long duration dives; during a routine dive, adults can hold their breath for 25 min ...
Myrna eBarjau Perez-Milicua +3 more
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Hypoxanthine-Guanine Phosphoribosyltransferase Is Dispensable for Mycobacterium smegmatis Viability. [PDF]
J Bacteriol, 2020 Knejzlík Z +3 more
europepmc +3 more sources
Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay [PDF]
Frontiers in GeneticsLesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Haoyang Zheng +24 more
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Transcriptomic and Metabolomic Analysis Reveals the Impact of Autophagy Regulation on Purine Content in Mutton [PDF]
FoodsBackground: 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
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Hypoxanthine guanine phosphoribosyltransferase partial deficiency [PDF]
, 2020 INSERM
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