Results 41 to 50 of about 13,871 (203)

Encephalomalacia/gliosis, deep venous thrombosis, and cancer in Arg393His antithrombin Hanoi and the potential impact of the β-amyloid precursor protein (APP) on thrombosis and cancer

AIMS Neuroscience, 2022
A heterozygous Arg393His point mutation at the reactive site of antithrombin (AT) gene causing thrombosis in a Vietnamese patient is reported and named as Arg393His in AT-Hanoi.
Khue Vu Nguyen
doaj   +1 more source

Purification and Characterization of Human Hypoxanthine/Guanine Phosphoribosyltransferase [PDF]

European Journal of Biochemistry, 1977
Human hypoxanthine/guanine phosphoribosyltransferase (EC 2.4.2.8) was purified from red blood cells by the following two methods. Method A includes (a) elimination of hemoglobin by DEAE‐cellulose, (b) DEAE‐Sephadex chromatography, (c) specific elution of the enzyme from CM‐Sephadex by pyrophosphate and (d) Sephadex G‐100 gel filtration.
Helmut Muensch, Akira Yoshida
openaire   +3 more sources

The renal phenotype of allopurinol-treated HPRT-deficient mouse.

PLoS ONE, 2017
Excess of uric acid is mainly treated with xanthine oxidase (XO) inhibitors, also called uricostatics because they block the conversion of hypoxanthine and xanthine into urate.
Cristina Zennaro, Federica Tonon, Paola Zarattini, Milan Clai, Alessandro Corbelli, Michele Carraro, Marialaura Marchetti, Luca Ronda, Gianluca Paredi, Maria Pia Rastaldi, Riccardo Percudani   +10 more
doaj   +1 more source

On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469

FEBS Open Bio, EarlyView.
ZNF469 regulates the expression of genes encoding extracellular matrix proteins. Endogenous ZNF469 is predominantly cytoplasmic, while in transfected cells, it forms aggregates reminiscent of biomolecular condensates, located mainly in the nucleus. These condensates exhibit overlapping staining with proteasomes and are also associated with the mitotic ...
Anne Elisabeth Christensen Mellgren, Ileana Cristea, Thomas Stevenson, Endy Spriet, Per Morten Knappskog, Stig Ove Bøe, Harald Kranz, Sushma N. Grellscheid, Eyvind Rødahl   +8 more
wiley   +1 more source

Late diagnosis of Lesch–Nyhan disease complicated with end-stage renal disease and tophi burst: a case report

Renal Failure, 2020
Background Lesch–Nyhan disease (LND) is a rare X-linked recessive inborn error of purine metabolism. Late diagnosis of LND may cause significant morbidity. LND cases have never been reported in Indonesia.
Cahyani Gita Ambarsari, Daffodilone Cahyadi, Lenny Sari, Oryza Satria, Felly Sahli, Thyrza Laudamy Darmadi, Agustina Kadaristiana   +6 more
doaj   +1 more source

The fate of thiopurine metabolites after switching to low‐dose thiopurine with allopurinol or thioguanine in IBD patients: A retrospective analysis

British Journal of Clinical Pharmacology, EarlyView.
Aims Shunting (hypermethylating) thiopurine metabolism, characterized by excessive 6‐MMPR production and (sub)therapeutic 6‐TGN levels, poses a significant challenge in the treatment of inflammatory bowel disease (IBD). This study evaluates the metabolic outcomes of switching to low‐dose thiopurine with allopurinol (LDTA) or thioguanine (TG) in IBD ...
Ahmed B. Bayoumy, Hedwig M. A. D'Agnolo, Nanne K. H. de Boer, Chris J. J. Mulder, Luc J. J. Derijks   +4 more
wiley   +1 more source

Converting the Guanine Phosphoribosyltransferase from Giardia lamblia to a Hypoxanthine-guanine Phosphoribosyltransferase [PDF]

Journal of Biological Chemistry, 2000
Guanine phosphoribosyltransferase from Giardia lamblia, a key enzyme in the purine salvage pathway, is a potential target for anti-giardiasis chemotherapy. Recent structural determination of GPRTase (Shi, W., Munagala, N. R., Wang, C. C., Li, C. M., Tyler, P. C., Furneaux, R. H., Grubmeyer, C., Schramm, V. L., and Almo, S. C.
Narsimha R. Munagala, Ching C. Wang, Anne E. Sarver   +2 more
openaire   +3 more sources

Structure, expression, and mutation of the hypoxanthine phosphoribosyltransferase gene. [PDF]

Proceedings of the National Academy of Sciences, 1984
The wild-type mouse hypoxanthine phosphoribosyltransferase (HPRT; IMP:pyrophosphate phosphoribosyltransferase, EC 2.4.2.8) gene has been isolated from genomic libraries and its structure has been determined. This X chromosome-linked gene is greater than 33 kilobases long and is split into nine exons.
D S Konecki, John Brennand, Charles T. Caskey, D W Melton   +3 more
openaire   +3 more sources

Sex‐specific associations of Roseburia with uric acid metabolism and hyperuricemia risk in females

iMetaOmics, EarlyView.
Researchers recruited 623 participants, including 270 females, and used 16S rDNA sequencing to investigate gender differences in hyperuricemia. In healthy females, Roseburia was enriched, positively correlating with estrogen and negatively with uric acid, suggesting it is a potential biomarker affecting uric acid levels in females.
Zhihan Yang, Zeng Zhang, Mohan Chen, Jin Hu, Yingqi Qiu, Shijia Lin, Xiaolu Zhou, Jiachao Zhang, Shuaiming Jiang   +8 more
wiley   +1 more source

Targeted siRNA Delivery Using Cetuximab‐Conjugated Starch for Epidermal Growth Factor Receptor‐Driven Head and Neck Squamous Cell Carcinoma

Small Science, EarlyView.
A starch‐based carrier conjugated to cetuximab enables targeted siRNA delivery to epidermal growth factor receptor‐overexpressing tumors. The complexes exhibit dual passive and active tumor targeting, effective cellular uptake, and gene silencing, offering a versatile platform for RNA therapeutics in head and neck cancer.
Chen Benafsha, Limor Cohen, Leah Shimonov, Riki Goldbart, Tamar Traitel, Eliz Amar‐Lewis, Ramesh Chintakunta, Manu Parasad, Uzi Hadad, Moshe Elkabets, Joseph Kost   +10 more
wiley   +1 more source