Research Advances in Purine Phosphoribosyltransferases of Protozoan Parasites
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
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Analysis of parameters of purine metabolism in patients with diabetes mellitus type 2
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
Clinical Images: Osteomyelitis complicating uncommon tophaceous gout: a case study with genetic findings. [PDF]
ACR Open Rheumatology, Volume 7, Issue 1, January 2025.
Colina M, Salomoni MG, Poerio A.
europepmc +2 more sources
Plasmodium falciparum hypoxanthine-guanine-xanthine phosphoribosyltransferase (PfHGXPRT) is essential for purine salvage of hypoxanthine into parasite purine nucleotides.
Yacoba V T Minnow+9 more
semanticscholar +1 more source
Severe myelosuppression and alopecia after thiopurine initiation in a patient with NUDT15 deficiency. [PDF]
Thiopurines are a class of immunosuppressant and antineoplastic agents. They are widely used in the treatment of inflammatory bowel disease, haematological malignancies and autoimmune diseases, but can cause significant toxicity. Inherited gene mutations are now recognized as independent risk factors for severe adverse drug reactions to thiopurines ...
Wu AS, Mozessohn L, Kim RB, Zipursky JS.
europepmc +2 more sources
Identification of a new lesch-nyhan syndrome mutation (HPRT BRASIL) and analysis of potentially heterozygous females [PDF]
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
Association between Cigarette Smoking and Hypoxanthine Guanine Phosphoribosyltransferase Activity
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
Human hypoxanthine-guanine phosphoribosyltransferase.
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
openaire +3 more sources
Metabolic engineering of the purine biosynthetic pathway in Corynebacterium glutamicum results in increased intracellular pool sizes of IMP and hypoxanthine [PDF]
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
HPRTSardinia: a new point mutation causing HPRT deficiency without Lesch–Nyhan disease [PDF]
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency always causing hyperuricemia presents various degrees of neurological manifestations, the most severe which is Lesch–Nyhan syndrome.
Carcassi, Aldo+9 more
core +1 more source