Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene.
Proceedings of the National Academy of Sciences of the United States of America, 1984 David W. Melton +3 more
openalex +3 more sources
Research Advances in Purine Phosphoribosyltransferases of Protozoan Parasites
Guangdong nongye kexue, 2023 Parasitic protozoa are single-celled organisms that have adapted to live in cells of humans and animals. The protozoan parasites include Leishmania spp., Trypanosoma spp., Plasmodium spp., Toxoplasma gondii, Cryptosporidium spp., and Eimeria spp., which ...
Zhihui YU +7 more
doaj +1 more source
Analysis of parameters of purine metabolism in patients with diabetes mellitus type 2
Medičnì Perspektivi, 2023 The aim of this research is to comprehensively analyze the current state of purine metabolism as well as assess its features in patients with diabetes mellitus type 2, taking into account the clinical and metabolic polymorphism of the disease.
A.O. Chernyaeva +2 more
doaj +1 more source
Targeted Knock-in of Transgenes into the CHO Cell Genome Using CRISPR-mediated Integration Systems [PDF]
MATEC Web of Conferences, 2021 Biopharmaceutical proteins are usually produced by culturing recombinant Chinese hamster ovary (CHO) cells. High producer cell lines are screened from transfected cells with random integration of target genes. Since transgene expression is susceptible to
Iwao Ryusei +4 more
doaj +1 more source
Allopurinol Treatment Improves Cognitive Skills, Adaptive Behavior, and Biochemical Markers in Young Patients With Adenylosuccinate Lyase Deficiency. [PDF]
J Inherit Metab DisABSTRACT Adenylosuccinate lyase deficiency (ADSLD) is a rare neurological disorder characterized by psychomotor retardation, autistic behaviors, and seizures, with no specific treatment available. ADSL catalyzes the transformation of succinylaminoimidazole carboxamide ribotide (SAICAr) to AICAR, and succinyl‐AMP (S‐AMP) to AMP.
Rousselot-Pailley B +12 more
europepmc +2 more sources
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
doaj +1 more source
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
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
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
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