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
doaj +1 more source
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
doaj +1 more source
Absolute quantification of the host-to-parasite DNA ratio in Theileria parva-infected lymphocyte cell lines [PDF]
, 2016 Theileria parva is a tick-transmitted intracellular apicomplexan pathogen of cattle in sub-Saharan Africa that causes East Coast fever (ECF). ECF is an acute fatal disease that kills over one million cattle annually, imposing a tremendous burden on ...
Bishop, Richard P. +5 more
core +4 more sources
Cell Reports, 2023 Summary: Small cell lung cancer (SCLC) is one of the deadliest human cancers, with a 5-year survival rate of ∼7%. Here, we performed a targeted proteomics analysis of human SCLC samples and thereby identified hypoxanthine phosphoribosyltransferase 1 ...
Manabu Kodama +25 more
doaj +1 more source
Crystal structure of hypoxanthine-guanine phosphoribosyltransferase [PDF]
, 2007 \ud \ud \ud \ud Background\ud \ud Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) (EC 2.4.2.8) is a central enzyme in the purine recycling pathway.
Monzani, Paulo S +3 more
core +1 more source
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease [PDF]
, 2016 Lesch-Nyhan disease (LND) is a severe neurological disorder caused by loss-of-function mutations in the gene encoding hypoxanthine phosphoribosyltransferase (HPRT), an enzyme required for efficient recycling of purine nucleotides.
AM Geurts +45 more
core +4 more sources
Biomarkers of selenium status in dogs [PDF]
, 2016 Background: Inadequate dietary selenium (Se) intake in humans and animals can lead to long term health problems, such as cancer. In view of the owner's desire for healthy longevity of companion animals, the impact of dietary Se provision on long term ...
Du Laing, Gijs +5 more
core +2 more sources
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
doaj +1 more source
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
doaj +1 more source
Metabolic engineering of the purine biosynthetic pathway in Corynebacterium glutamicum results in increased intracellular pool sizes of IMP and hypoxanthine [PDF]
, 2012 Background: Purine nucleotides exhibit various functions in cellular metabolism. Besides serving as building blocks for nucleic acid synthesis, they participate in signaling pathways and energy metabolism.
Barduhn, Tobias +5 more
core +1 more source