Results 21 to 30 of about 24,062 (183)

Lesch-Nyhan Disease and Its Variants: Phenotypic and Mutation Spectrum of Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Argentine Patients

Journal of Inborn Errors of Metabolism and Screening, 2021
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is a disorder of purine metabolism responsible for Lesch-Nyhan Disease (LND) and its variants, HPRT-related hyperuricemia with neurologic dysfunction (HND) and HPRT-related hyperuricemia ...
Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer   +6 more
doaj   +1 more source

Biosynthesis and Genetic Tuning of Guanine Crystals via Metabolic Engineering of Yeast

Angewandte Chemie, EarlyView.
We demonstrate how yeast cells can be harnessed as cellular factories for the synthesis of optically functional guanine crystals, where genetic editing is used to tune crystal size, order and optical properties. This demonstrates a powerful new biosynthetic approach for the development of sustainable and biocompatible optical pigments, which utilizes ...
Jerome N. Janssen, Yahel Fishman, Yi Li, Avital Wagner, Mariela J. Pavan, Zohar Paleiov, Tali Lemcoff, Rotem Lichtenstein‐Wolfheim, Alexander Upcher, Einat Nativ‐Roth, Amir Aharoni, Benjamin A. Palmer   +11 more
wiley   +2 more sources

Targeting purine metabolism in ovarian cancer

Journal of Ovarian Research, 2022
Purine, an abundant substrate in organisms, is a critical raw material for cell proliferation and an important factor for immune regulation. The purine de novo pathway and salvage pathway are tightly regulated by multiple enzymes, and dysfunction in ...
Jingchun Liu, Shasha Hong, Jiang Yang, Xiaoyi Zhang, Ying Wang, Haoyu Wang, Jiaxin Peng, Li Hong   +7 more
doaj   +1 more source

Red Blood Cells from Individuals with Lesch–Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency

Antioxidants, 2023
Lesch–Nyhan syndrome (LN) is an is an X-linked recessive inborn error of metabolism that arises from a deficiency of purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Julie A. Reisz, Monika Dzieciatkowska, Daniel Stephenson, Fabia Gamboni, D. Holmes Morton, Angelo D’Alessandro   +5 more
doaj   +1 more source

Data in support of the mutagenic potential of the isoflavone irilone in cultured V79 cells

Data in Brief, 2015
The isoflavone irilone is found in human plasma after ingestion of red clover-based dietary supplements, but information allowing safety assessment is rare.
Anne Scheffler, Annette E. Albrecht, Harald L. Esch, Leane Lehmann   +3 more
doaj   +1 more source

Uric acid, an important screening tool to detect inborn errors of metabolism: a case series

BMC Research Notes, 2017
Background Uric acid is the metabolic end product of purine metabolism in humans. Altered serum and urine uric acid level (both above and below the reference ranges) is an indispensable marker in detecting rare inborn errors of metabolism.
Eresha Jasinge, Grace Angeline Malarnangai Kularatnam, Hewa Warawitage Dilanthi, Dinesha Maduri Vidanapathirana, Kandana Liyanage Subhashinie Priyadarshika Kapilani Menike Jayasena, Nambage Dona Priyani Dhammika Chandrasiri, Neluwa Liyanage Ruwan Indika, Pyara Dilani Ratnayake, Vindya Nandani Gunasekara, Lynette Dianne Fairbanks, Blanka Stiburkova   +10 more
doaj   +1 more source

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

Kinetic Studies of Hypoxanthine-Guanine Phosphoribosyltransferase

Journal of Biological Chemistry, 1968
Abstract The mechanism of reaction of human erythrocyte hypoxanthine-guanine phosphoribosyltransferase was investigated by initial velocity, product inhibition, and isotope exchange studies. Although initial velocity data are compatible with a mechanism involving binary enzyme-substrate complexes, the product inhibition and isotope exchange studies ...
J F, Henderson, L W, Brox, W N, Kelley, F M, Rosenbloom, J E, Seegmiller   +4 more
openaire   +2 more sources

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 ...
P I, Patel, P E, Framson, C T, Caskey, A C, Chinault   +3 more
openaire   +2 more sources

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.
H, Muensch, A, Yoshida
openaire   +2 more sources