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

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
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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
J M, Wilson, R, Kobayashi, I H, Fox, W N, Kelley   +3 more
openaire   +3 more sources

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

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   +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

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   +3 more sources

Hypoxanthine-Guanine Phosphoribosyltransferase [PDF]

, 2020
National Cancer Institute
openaire   +2 more sources

Association between Cigarette Smoking and Hypoxanthine Guanine Phosphoribosyltransferase Activity

Kaohsiung Journal of Medical Sciences, 2005
The aim of this study was to investigate the association between smoking behavior and hypoxanthine guanine phosphoribosyltransferase (HGPRT) activity. A cross-sectional study was performed of 82 men, including 38 non-smokers and 44 smokers.
Shun-Jen Chang, Shiu-Min Chen, Shang-Lun Chiang, Kee-Lung Chang, Ying-Chin Ko   +4 more
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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
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Investigation of the functional hot-spot residues of an enzyme by real-time monitoring of the enzymatic reaction using NMR and computational approaches [PDF]

Scientific Reports
Favipiravir is an anti-influenza prodrug that is metabolized to its phosphoribosylated form, favipiravir-ribofuranosyl-5′-monophosphate (favipiravir-RMP), by human endogenous enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT).
Toshihiko Sugiki, Tomoki Yoshida, Masaki Tsukamoto, Koichiro Miyanishi, Akinori Kagawa, Natsuko Miura, Tomoto Ura, Jun Fukazawa, Yuko Hatanaka, Tsuyoshi Murata, Toshimichi Fujiwara, Masahiro Kitagawa, Yasushi Morita, Kumiko Sakai-Kato, Yoichi Takakusagi, Nobutada Tanaka, Makoto Negoro   +16 more
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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