Results 71 to 80 of about 17,899 (259)

Description of the Molecular and Phenotypic Spectrum of Lesch-Nyhan Disease in Eight Chinese Patients

Frontiers in Genetics, 2022
Background: Lesch-Nyhan disease (LND) is a rare disorder involving pathogenic variants in the HPRT1 gene encoding the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT) that result in hyperuricemia, intellectual disability, dystonic movement ...
Lu Li, Xiaohui Qiao, Fei Liu, Jingjing Wang, Huijun Shen, Haidong Fu, Jian-Hua Mao   +6 more
doaj   +1 more source

Crystal structures of Trypanosoma brucei hypoxanthine – guanine – xanthine phosphoribosyltransferase in complex with IMP, GMP and XMP

The FEBS Journal, 2019
The 6‐oxopurine phosphoribosyltransferases (PRTs) are drug targets for the treatment of parasitic diseases. This is due to the fact that parasites are auxotrophic for the 6‐oxopurine bases relying on salvage enzymes for the synthesis of their 6‐oxopurine
D. Terán, E. Dolezelova, D. Keough, D. Hocková, A. Zíková, L. Guddat   +5 more
semanticscholar   +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

Plasmodium Purine Metabolism and Its Inhibition by Nucleoside and Nucleotide Analogues [PDF]

, 2019
International audienceMalaria still affects around 200 million people and is responsible for more than 400,000 deaths per year, mostly children in subequatorial areas. This disease is caused by parasites of the Plasmodium genus.
Cheviet, Thomas, Lefebvre-Tournier, Isabelle, Peyrottes, Suzanne, Wein, Sharon   +3 more
core   +3 more sources

Achilles tenocytes from diabetic and non diabetic donors exposed to hyperglycemia respond differentially to inflammatory stimuli and stretch

Journal of Anatomy, EarlyView.
Scheme depicting the experimental set up of the study. Achilles tendons and tenocytes were isolated from heterozygous (fa/+, non diabetic: non DMT2) and homozygous (fa/fa, diabetic: DMT2) Zucker Diabetic Fatty (ZDF) rats. Tendon degeneration, collagen type 1 alpha 1 chain (COL1A1) and alpha smooth muscle actin (αSMA) expression was determined in rat ...
Nils Fleischmann, Sarah Hofmann, Clemens Gögele, Eva Frank, Christian Werner, Maria Kokozidou, Bernd Hoffmann, Jens Konrad, Gundula Schulze‐Tanzil   +8 more
wiley   +1 more source

Study of HPRT gene expression using gene targeting and transgenic mice [PDF]

, 1989
(HPRT - Hypoxanthine-guanine Phosphoribosyltransferase)Available from British Library Document Supply Centre- DSC:D79294 / BLDSC - British Library Document Supply CentreSIGLEGBUnited ...
Thompson, Simon
core  

Attenuated variants of Lesch-Nyhan disease [PDF]

, 2010
Lesch–Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine–guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe ...
A. Cossu, A. Verdu, Adler, Anderson, Anderson, Andr  s, Ashour, Bakay, Bitler, Bouwens-Rombouts, Burke, C.-H. Wu, C.-J. Chen, Cameron, Chang, Cossu, D. J. Schretlen, Dancis, Davidson, Dawson, Dussol, Ea, Egami, Ernst, Fairbanks, Garcia, Gottlieb, H. A. Jinnah, Hersh, Hidalgo-Laos, Holland, Hunter, I. Ceballos-Picot, J. C. Harris, J. E. Visser, J. G. Puig, Jinnah, Jinnah, Jinnah, Jinnah, Jinnah, Jinnah, KELLEY, Kiziltan, L. E. Larovere, Larovere, Lesch, Lightfoot, Lloyd, Mak, Marcus, Mateos, Matthews, McDonald, Nausieda, Nyhan, O'Neill, Page, Page, Puig, R. D. de Kremer, R. J. Torres, R. Sampat, Rijksen, S. G. Reich, S.-J. Chang, Schretlen, Schretlen, Sege-Peterson, Snyder, Srivastava, Torres, Visser, W. Nyhan, Wong, Wu, Yang, Yang, Yeh, Zoref-Shani   +79 more
core   +7 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

Lesch-Nyhan Syndrome: Evaluation of a Modified Bite Device to Prevent Bite Injuries

Applied Sciences, 2020
Lesch-Nyhan syndrome (LNS) is a serious form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary purine metabolism disorder. The prevalence reported in the literature is 1/380,000 to 235,000 births.
Gaetano Ierardo, Valeria Luzzi, Gian Luca Sfasciotti, Antonella Polimeni, Maurizio Bossù   +4 more
doaj   +1 more source

Striatal neurodevelopment is dysregulated in purine metabolism deficiency and impacts DARPP-32, BDNF/TrkB expression and signaling: new insights on the molecular and cellular basis of Lesch-Nyhan Syndrome. [PDF]

PLoS ONE, 2014
Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT).
Ghiabe-Henri Guibinga, Nikki Barron, William Pandori   +2 more
doaj   +1 more source