Results 11 to 20 of about 51,551 (285)

New Mutation Affecting Hypoxanthine Phosphoribosyltransferase Responsible for Severe Tophaceous Gout

Nihon rinsho. Japanese journal of clinical medicine, 2014
Inherited mutations of a purine salvage enzyme, hypoxanthine guanine phosphoribosyltransferase (HPRT, EC 2.4.2.8; MIM308000), give rise to Lesch-Nyhan syndrome (MIM300322) or HPRT-related gout called as Kelley-Seegmiller syndrome (MIM300323). In contrast with the most severe phenotype of classical Lesch-Nyhan disease (LND), the least severe phenotype ...
C. Lahaye, F. Augé, M. Soubrier, I. Ceballos-Picot   +3 more
semanticscholar   +3 more sources

Case report: Whole exome sequencing identifies a novel variant in the HPRT1 gene in a male with developmental delay [PDF]

Frontiers in Genetics
Lesch-Nyhan syndrome (LNS, OMIM #300322) is a rare X-linked genetic disorder caused by variants in the HPRT1 gene, which codes for the Hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Haoyang Zheng, Haoyang Zheng, Haoyang Zheng, Gui Chen, Gui Chen, Gui Chen, Tingting Wang, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Weisheng Cheng, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Jing Yuan, Fang Liu, Fang Liu, Fang Liu, Yuanhong Xu, Yuanhong Xu, Yuanhong Xu   +24 more
doaj   +2 more sources

Pyrrolidine nucleoside bisphosphonates as antituberculosis agents targeting hypoxanthine-guanine phosphoribosyltransferase.

European journal of medicinal chemistry, 2018
W. Eng, D. Rejman, R. Pohl, N. West, Kyra Woods, L. Naesens, D. Keough, L. Guddat   +7 more
semanticscholar   +2 more sources

Interference of Sulphonate Buffering Agents with E. coli Hypoxanthine-Guanine Phosphoribosyltransferase Active Site Functioning: A Crystallographic and Enzymological Study

Crystals
The investigation of the structure–function relationship in hypoxanthine-guanine phosphoribosyltransferases (HGPRT) is a direction that is relevant for the development of drugs and approaches of enzymatic synthesis of modified nucleosides and nucleotides.
Evgeniy A. Zayats, Yulia A. Abramchik, Maria A. Kostromina, Vladimir I. Timofeev, Mikhail B. Shevtsov, Alexey V. Mishin, Ilya V. Fateev, Andrey A. Karanov, Alexandra R. Sharafutdinova, Aleksandra O. Arnautova, Irina D. Konstantinova, Valentin I. Borshchevskiy, Roman S. Esipov   +12 more
doaj   +2 more sources

The Effect of Two Weeks of High-intensity Interval Training on Salvage nucleotide pathway [PDF]

فیزیولوژی ورزش و فعالیت بدنی, 2022
Purpose: The effects of exercise adaptation on improving the purine nucleotides components are inevitable, and physical activity improves the purine nucleotide salvage pathway.
Abbas Ghanbari Niaki, Rouhollah Haghshenas Gatabi   +1 more
doaj   +1 more source

Context-Specific Metabolic Alterations in HPRT1 Knockout Cells Within a 3D Culture System. [PDF]

Cancer Med
Cancer metabolism studies in 2D culture models often overlook the in vivo complexity. We found that HPRT1 knockout suppressed cell proliferation in 3D and in vivo, but had minimal effect in 2D. Metabolomic analysis also revealed that HPRT1 knockout increased carnosine production via the β‐alanine pathway in 3D cultures. ABSTRACT Background Cancer cells
Tabata S, Fujimoto I, Soga T, Makinoshima H.   +3 more
europepmc   +2 more sources

CpG island promoter region methylation patterns of the inactive-X-chromosome hypoxanthine phosphoribosyltransferase (Hprt) gene

Molecular and Cellular Biology, 1994
JONG-GWANG Park, V. Chapman
semanticscholar   +3 more sources

Studies on the nature of the regulation by purine nucleotides of adenine phosphoribosyltransferase and of hypoxanthine phosphoribosyltransferase from Ehrlich ascites-tumour cells. [PDF]

Biochemical Journal, 1967
A. W. Murray
semanticscholar   +2 more sources

Absolute quantification of the host-to-parasite DNA ratio in Theileria parva-infected lymphocyte cell lines [PDF]

, 2016
Theileria parva is a tick-transmitted intracellular apicomplexan pathogen of cattle in sub-Saharan Africa that causes East Coast fever (ECF). ECF is an acute fatal disease that kills over one million cattle annually, imposing a tremendous burden on ...
Bishop, Richard P., Daubenberger, Claudia A., Gotia, Hanzel T., Knowles, Donald P., Munro, James B., Silva, Joana C.   +5 more
core   +13 more sources

Germ-line transmission of a planned alteration made in a hypoxanthine phosphoribosyltransferase gene by homologous recombination in embryonic stem cells.

Proceedings of the National Academy of Sciences of the United States of America, 1989
Beverly H. Koller, Lora J. Hagemann, Thomas Doetschman, J. Hagaman, Shiu Huang, Patrick Williams, Neal L. First, Nobuyo Maeda, O. Smithies   +8 more
semanticscholar   +3 more sources