Results 1 to 10 of about 51,551 (285)

Perfecting a high hypoxanthine phosphoribosyltransferase activity-uricase KO mice to test the effects of purine- and non-purine-type xanthine dehydrogenase (XDH) inhibitors. [PDF]

Br J Pharmacol, 2020
Purine metabolism in mice and human differ in terms of uricase (Uox) activity as well as hypoxanthine phosphoribosyltransferase (HPRT) activity.
Hosoya T, Uchida S, Shibata S, Tomioka NH, Hosoyamada M.   +4 more
europepmc   +2 more sources

Potential molecular link between the β-amyloid precursor protein (APP) and hypoxanthine-guanine phosphoribosyltransferase (HGprt) enzyme in Lesch-Nyhan disease and cancer

AIMS Neuroscience, 2021
Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorders of purine metabolic in which the cytoplasmic enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective.
Khue Vu Nguyen
doaj   +2 more sources

Hypoxanthine-Guanine Phosphoribosyltransferase/adenylate Kinase From Zobellia galactanivorans: A Bifunctional Catalyst for the Synthesis of Nucleoside-5′-Mono-, Di- and Triphosphates

Frontiers in Bioengineering and Biotechnology, 2020
In our search for novel biocatalysts for the synthesis of nucleic acid derivatives, we found a good candidate in a putative dual-domain hypoxanthine-guanine phosphoribosyltransferase (HGPRT)/adenylate kinase (AMPK) from Zobellia galactanivorans (ZgHGPRT ...
Javier Acosta, Jon Del Arco, Maria Luisa Del Pozo, Beliña Herrera-Tapias, Vicente Javier Clemente-Suárez, Vicente Javier Clemente-Suárez, José Berenguer, Aurelio Hidalgo, Jesús Fernández-Lucas, Jesús Fernández-Lucas   +9 more
doaj   +2 more sources

Human hypoxanthine-guanine phosphoribosyltransferase.

Journal of Biological Chemistry, 1983
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, Ryōji Kobayashi, Irving H. Fox, William N. Kelley   +3 more
openalex   +3 more sources

Examination of Hypoxanthine Guanine Phosphoribosyltransferase as a biomarker for colorectal cancer patients

Molecular & Cellular Oncology, 2018
The aim of this study is to investigate these enzymes as possible biomarkers in two colorectal cancer cell lines: HT29, SW480, SW620, and Colo205. With 1,168,929 individuals currently diagnosed with colorectal cancer in the United States, there remains a
Michelle H. Townsend, Abigail M. Felsted, Weston Burrup, Richard A. Robison, Kim L. O’Neill   +4 more
doaj   +2 more sources

Epigenetic modulation of human neurobiological disorders: Lesch-Nyhan disease as a model disorder [PDF]

AIMS Neuroscience
Epigenetics is the study of how cells control gene activity without changing the DNA sequence. Epigenetic changes affect how genes are turned on and off or expressed, and thus help regulate how cells in different parts of the body use the same genetic ...
Khue Vu Nguyen
doaj   +2 more sources

Restoring Ureagenesis in Hepatocytes by CRISPR/Cas9-mediated Genomic Addition to Arginase-deficient Induced Pluripotent Stem Cells [PDF]

Molecular Therapy: Nucleic Acids, 2016
Urea cycle disorders are incurable enzymopathies that affect nitrogen metabolism and typically lead to hyperammonemia. Arginase deficiency results from a mutation in Arg1, the enzyme regulating the final step of ureagenesis and typically results in ...
Patrick C Lee, Brian Truong, Agustin Vega-Crespo, W Blake Gilmore, Kip Hermann, Stephanie AK Angarita, Jonathan K Tang, Katherine M Chang, Austin E Wininger, Alex K Lam, Benjamen E Schoenberg, Stephen D Cederbaum, April D Pyle, James A Byrne, Gerald S Lipshutz   +14 more
doaj   +5 more sources

Prioritization of Deleterious Variations in the Human Hypoxanthine-Guanine Phosphoribosyltransferase Gene

Medical Laboratory Journal, 2018
Background and Objectives: Non-synonymous single nucleotide polymorphisms are typical genetic variations that may potentially affect the structure or function of expressed proteins, and therefore could be involved in complex disorders.
Semira Kheiri, Mahdieh Safarzad, Mohammad Shariati, Hoda Sohrabi   +3 more
doaj   +2 more sources

Evaluation of the upregulation and surface expression of hypoxanthine guanine phosphoribosyltransferase in acute lymphoblastic leukemia and Burkitt’s B cell lymphoma [PDF]

Cancer Cell International, 2020
Background The aim of this study is to determine whether Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) could be used as a biomarker for the diagnosis and treatment of B cell malignancies.
Michelle H. Townsend, Zac E. Ence, Taylor P. Cox, John E. Lattin, Weston Burrup, Michael K. Boyer, Stephen R. Piccolo, Richard A. Robison, Kim L. O’Neill   +8 more
doaj   +2 more sources

Hypoxanthine-guanine phosphoribosyltransferase deficiency [PDF]

Definitions, 2020
D. Metze, V. F. Cury, Ricardo S. Gomez, L. Marco, Dror Robinson, Eitan Melamed, Alexander K. C. Leung, Jae-Hwan Nam, Yoichi Matsubara, Keiya Tada, S. Sancak, Ralf Paschke, S. Kupka, Stefan K. Plontke, Hans-Peter Zenner, G. Azhar, Jeanne Y. Wei, Y. Kang, Katsuhiko Yoshizawa, Abraham Nyska, Graeme Jones, Kathy Triantafilou, P. Lepper, Johannes G. Bode, C. Kashtan, Klaus Schümann, Günter Weiss, C. Skerka, Christoph Licht, P. Zipfel, H. Cate, Mark Oette, D. Häussinger, Isabelle Ruel, P. Couture, Benoît Lamarche, S. Siegmund, Stephan L. Haas, Manfred V. Singer, Tobias Heintges, Ralf Kubitz, Andreas Erhardt, F. Lammert, J. Lorenzen, Hubert E. Blum, Darius Moradpour, Georg H. Merker, Matthias Wettstein, Mónica Guevara, Pere Ginés, H. Cate, Ulrich Heininger, Markus Pfister, M. Schmitt, A. Schinkel, D. Poldermans, Jeroen J. Bax, Heimo Mairbäurl, Peter Bärtsch, Georg H. Merker, Percy Chiu, R. Legro, W. L. Nyhan, Sandeep S. Dave, Jürgen Kohlhase, A. Dielis, S. Harvey Mudd, Christian Simon, Oliver Schildgen, S. L. Sternak, G. Mlinarić‐Galinović, Eggert Stockfleth, I. Nindl, Inga Zerr, Mathias Bähr, N. Stankus, Katrin S. Lindenberg, G. Bernhard Landwehrmeyer, Jonas Denecke, S. Katsuragi, B. Grimbacher, C. Woellner, Steven Holland, Christian A. Koch, Michael T. Geraghty, Peter L. M. Jansen, Robert P. Whitehead, Edward M. Brown, Mei Bai, T. Martin, Joaquin Escribano, Victor M. Garca Nieto, Patrick T. S. Ma, Lucia K. Ma, Alexander K. C. Leung, Angelika F. Hahn, M. Nallegowda, Upinderpal Singh, M. Umapathi, Rakesh Kumar, R. Badolato, Benjamin Glaser, R. Schreiber, Daniel Landau, Goo Taeg Oh, C. Kallen, J. Topf, Patrick Murray, Jaime Tejedor, Manish Kumar Varshney, K. Suphapeetiporn, V. Shotelersuk, Bernd Hoppe, Albrecht Hesse, Geoffrey N. Hendy, David E. C. Cole, Charles R. Nolan, H. Shintaku, Hiroshi Ichinose, H. Mankin, G. Uwaifo, Bettina C. Reulecke, Werner Heppt, A. Cryer, Radoslav Tomić, Jesse Roman, J. Rémi, S. Noachtar, M. Nagase, Toshiro Fujita, Á. Cogolludo, Jason X.-J. Yuan, Lewis J. Rubin, Manning R. Davis, T. Poduval, Saurabh Chatterjee, H. Gozu, Markus Eszlinger, R. Bircan, J. Lüblinghoff, Julia Lüblighoff, Roland Pfäffle, S. Zhao, Hui-jun Ye, J. Mogensen, R. Kebudi, Sezer Saglam, Michael A. Becker, J. Asplin, R. Gotshall, H. Scharnagl, Winfried März, J. A. Sayer, Simon H.S. Pearce, James Paparello, P. Klemmer, Abhijit V. Kshirsagar, Patrick T. S. Ma, Lucia K. Ma, Marco Castori, Roswitha Siener, P. Habermehl, M. Knuf, Christoph Michalski, J. Kleeff, Annette Richter-Unruh, Denis J. Headon, P. Overbeek, Alanna F. Bree, Hendrica Belge, Eva Riveira-Munoz, Olivier Devuyst, Stefanie Weber, M. Moritz, J. Ayus, Simon H.S. Pearce, Michael P. Whyte, Masafumi Fukagawa, Motoko Tanaka, H. Tenenhouse, A. Gutenberg, Patrizio Caturegli, C. Oswalt, Pirooz Eghtesady, M. Suneja, Christie P. Thomas, H. Sasaki, T. Yukioka, Maurice van Steensel, R. Wu, Ping Wang, G. Feuerstein, R. Ruffolo, H. Jinnah, James C. Harris, Holger K. Eltzschig, A. Grenz   +196 more
semanticscholar   +2 more sources