Results 21 to 30 of about 13,871 (203)
Frontiers in Bioengineering and Biotechnology, 2020 In our search for novel biocatalysts for the synthesis of nucleic acid derivatives, we found a good candidate in a putative dual-domain hypoxanthine-guanine phosphoribosyltransferase (HGPRT)/adenylate kinase (AMPK) from Zobellia galactanivorans (ZgHGPRT ...
Javier Acosta +9 more
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PRTFDC1 is a genetic modifier of HPRT-deficiency in the mouse. [PDF]
PLoS ONE, 2011 Lesch-Nyhan disease (LND) is a severe X-linked neurological disorder caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT). In contrast, HPRT-deficiency in the mouse does not result in the profound phenotypes such as self-injurious ...
Alaine C Keebaugh +6 more
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Pediatrics and Neonatology, 2014 Deficiency of hypoxanthine phosphoribosyltransferase activity is a rare inborn error of purine metabolism with subsequent uric acid overproduction and neurologic presentations.
Jeng-Dau Tsai +5 more
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Association between Cigarette Smoking and Hypoxanthine Guanine Phosphoribosyltransferase Activity
Kaohsiung Journal of Medical Sciences, 2005 The aim of this study was to investigate the association between smoking behavior and hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity. A cross-sectional study was performed of 82 men, including 38 non-smokers and 44 smokers.
Shun-Jen Chang +4 more
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Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
Arquivos de Neuro-Psiquiatria, 1999 The mutation in the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene has been determined in two brothers affected with Lesch-Nyhan syndrome. Female members of the family who are at risk for being heterozygous carriers of the HPRT mutation were ...
PATRICK O'NEILL +10 more
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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
James M. Wilson +3 more
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Fine structure of the human hypoxanthine phosphoribosyltransferase gene. [PDF]
Molecular and Cellular Biology, 1986 The human hypoxanthine phosphoribosyltransferase (HPRT) gene has been characterized by molecular cloning, mapping, and DNA sequencing techniques. The entire gene, which is about 44 kilobases in length, is composed of nine exon elements. The positions of the introns within the coding sequence are identical to those of the previously-characterized mouse ...
C T Caskey +3 more
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Induced pluripotent stem cells from subjects with Lesch-Nyhan disease
Scientific Reports, 2021 Lesch-Nyhan disease (LND) is an inherited disorder caused by pathogenic variants in the HPRT1 gene, which encodes the purine recycling enzyme hypoxanthine–guanine phosphoribosyltransferase (HGprt).
Diane J. Sutcliffe +12 more
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Thermophilic phosphoribosyltransferases Thermus thermophilus HB27 in nucleotide synthesis
Beilstein Journal of Organic Chemistry, 2018 Phosphoribosyltransferases are the tools that allow the synthesis of nucleotide analogues using multi-enzymatic cascades. The recombinant adenine phosphoribosyltransferase (TthAPRT) and hypoxanthine phosphoribosyltransferase (TthHPRT) from Thermus ...
Ilja V. Fateev +9 more
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dGTP starvation in Escherichia coli provides new insights into the thymineless-death phenomenon.
PLoS Genetics, 2014 Starvation of cells for the DNA building block dTTP is strikingly lethal (thymineless death, TLD), and this effect is observed in all organisms. The phenomenon, discovered some 60 years ago, is widely used to kill cells in anticancer therapies, but many ...
Mark Itsko, Roel M Schaaper
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