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24 Results Found

  • Article
  • Open Access
684 Views
15 Pages

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

  • 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 and
  • Roman S. Esipov
  • + 3 authors

8 October 2025

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 n...

  • Article
  • Open Access
10 Citations
4,799 Views
20 Pages

31 August 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). The disease manifests severely, causing intellectu...

  • Article
  • Open Access
2 Citations
2,741 Views
16 Pages

Effects of Immunization with Recombinant Schistosoma mansoni Enzymes AK and HGPRT: Murine Infection Control

  • Ana Carolina Maragno Fattori,
  • Elisandra de A. Montija,
  • Bruna D. de L. Fragelli,
  • Ricardo de O. Correia,
  • Cynthia Aparecida de Castro,
  • Larissa Romanello,
  • Camila T. Nogueira,
  • Silmara M. Allegretti,
  • Edson G. Soares and
  • Fernanda de F. Anibal
  • + 1 author

Schistosomiasis is one of the most important human helminthiases worldwide. Praziquantel is the current treatment, and no vaccine is available until the present. Thus, the presented study aimed to evaluate the immunization effects with recombinant Sc...

  • Case Report
  • Open Access
2 Citations
3,814 Views
8 Pages

Whole Exome Sequencing Facilitates Early Diagnosis of Lesch–Nyhan Syndrome: A Case Series

  • Hung-Hsiang Fang,
  • Chung-Lin Lee,
  • Hui-Ju Chen,
  • Chih-Kuang Chuang,
  • Huei-Ching Chiu,
  • Ya-Hui Chang,
  • Yuan-Rong Tu,
  • Yun-Ting Lo,
  • Hsiang-Yu Lin and
  • Shuan-Pei Lin

13 December 2024

Background: Lesch–Nyhan syndrome (LNS) is a rare X-linked recessive metabolic disorder caused by mutations in the HPRT1 gene, resulting in hypoxanthine–guanine phosphoribosyltransferase (HPRT) deficiency. Early diagnosis is critical for o...

  • Article
  • Open Access
21 Citations
4,810 Views
16 Pages

11 December 2019

To date, Plasmodium falciparum is one of the most lethal strains of the malaria parasite. P. falciparum lacks the required enzymes to create its own purines via the de novo pathway, thereby making Plasmodium falciparum hypoxanthine-guanine-xanthine p...

  • Article
  • Open Access
2 Citations
3,140 Views
13 Pages

14 February 2024

Obtaining accurate and reliable gene expression results in real-time RT-PCR (qRT-PCR) data analysis requires appropriate normalization by carefully selected reference genes, either a single or a combination of multiple housekeeping genes (HKGs). The...

  • Article
  • Open Access
15 Citations
3,616 Views
15 Pages

The Effect of Training on Erythrocyte Energy Status and Plasma Purine Metabolites in Athletes

  • Barbara Pospieszna,
  • Krzysztof Kusy,
  • Ewa Maria Słomińska,
  • Wioleta Dudzinska,
  • Monika Ciekot-Sołtysiak and
  • Jacek Zieliński

19 December 2019

This study aimed to assess the changes in red blood cell (RBC) energy status and plasma purine metabolites concentration over a one-year training cycle in endurance-trained (EN; n = 11, 20–26 years), and sprint-trained (SP; n = 11, 20–30...

  • Review
  • Open Access
70 Citations
9,679 Views
27 Pages

Purine-Metabolising Enzymes and Apoptosis in Cancer

  • Marcella Camici,
  • Mercedes Garcia-Gil,
  • Rossana Pesi,
  • Simone Allegrini and
  • Maria Grazia Tozzi

12 September 2019

The enzymes of both de novo and salvage pathways for purine nucleotide synthesis are regulated to meet the demand of nucleic acid precursors during proliferation. Among them, the salvage pathway enzymes seem to play the key role in replenishing the p...

  • Article
  • Open Access
10 Citations
3,894 Views
18 Pages

Identification of Reference Genes for Circadian Studies on Brain Microvessels and Choroid Plexus Samples Isolated from Rats

  • Aleksandra Szczepkowska,
  • András Harazin,
  • Lilla Barna,
  • Mária A. Deli and
  • Janina Skipor

17 August 2021

Delivery of putative compounds of therapeutic value to the brain is limited by brain barriers: the blood–brain barrier located in the endothelium of the brain microvessels (BrMVs) and the blood–cerebrospinal fluid barrier located in the epithelium of...

  • Article
  • Open Access
9 Citations
3,942 Views
7 Pages

Oral Self-Mutilation in Lesch–Nyhan Patients: A Cross-Sectional Study

  • Gaetano Isola,
  • Ilaria Piccardo,
  • Anna De Mari,
  • Giorgio Alberti and
  • Marco Migliorati

11 October 2022

Lesch–Nyhan syndrome (LNS) is a rare genetic condition resulting from an inherited disorder of purine metabolism. It is characterized by the lack of one enzyme, hypoxanthine-guanine phos-phoribosyltransferase (HGPRT), which is responsible for p...

  • Article
  • Open Access
2 Citations
1,829 Views
19 Pages

Prediction of Cancer Proneness under Influence of X-rays with Four DNA Mutability and/or Three Cellular Proliferation Assays

  • Laura El Nachef,
  • Larry Bodgi,
  • Maxime Estavoyer,
  • Simon Buré,
  • Anne-Catherine Jallas,
  • Adeline Granzotto,
  • Juliette Restier-Verlet,
  • Laurène Sonzogni,
  • Joëlle Al-Choboq and
  • Nicolas Foray
  • + 2 authors

18 September 2024

Context: Although carcinogenesis is a multi-factorial process, the mutability and the capacity of cells to proliferate are among the major features of the cells that contribute together to the initiation and promotion steps of cancer formation. Parti...

  • Article
  • Open Access
9 Citations
6,693 Views
11 Pages

Wireless power transfer (WPT) technology using the resonant coupling phenomenon has been widely studied, but there are very few studies concerning the possible relationship between WPT exposure and human health. In this study, we investigated whether...

  • Case Report
  • Open Access
3 Citations
4,788 Views
8 Pages

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

  • Gaetano Ierardo,
  • Valeria Luzzi,
  • Gian Luca Sfasciotti,
  • Antonella Polimeni and
  • Maurizio Bossù

30 May 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. Males are affected an...

  • Article
  • Open Access
23 Citations
5,526 Views
13 Pages

Development of an Effective 6-Methylpurine Counterselection Marker for Genetic Manipulation in Thermococcus barophilus

  • Tiphaine Birien,
  • Axel Thiel,
  • Ghislaine Henneke,
  • Didier Flament,
  • Yann Moalic and
  • Mohamed Jebbar

7 February 2018

A gene disruption system for Thermococcus barophilus was developed using simvastatin (HMG-CoA reductase encoding gene) for positive selection and 5-Fluoroorotic acid (5-FOA), a pyrF gene for negative selection. Multiple gene mutants were constructed...

  • Article
  • Open Access
1,347 Views
26 Pages

Gene Expression Analysis of HPRT-Deficient Cells Maintained with Physiological Levels of Folic Acid

  • Rosa J. Torres,
  • Gerard Valentines-Casas,
  • Claudia Cano-Estrada,
  • Neus Ontiveros and
  • José M. López

18 July 2025

Lesch–Nyhan disease (LND) is associated with a complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HPRT) activity due to mutations in the HPRT1 gene. Although the physiopathology of LND-related neurological manifestations rem...

  • Article
  • Open Access
4 Citations
2,492 Views
16 Pages

Transcriptomic and Metabolomic Analysis Reveals the Impact of Autophagy Regulation on Purine Content in Mutton

  • Xu Han,
  • Yang Chen,
  • Dandan Tan,
  • Cuiyu Lai,
  • Xuewen Han,
  • Jinlin Chen,
  • Yu Fu,
  • Xuesong Shan and
  • Huaizhi Jiang

20 February 2025

Background: Excessive purine intake increases the risk of hyperuricemia and gout. This study investigates the relationship between purine content in mutton and meat quality traits and explores the regulatory mechanism of purine metabolism through tra...

  • Article
  • Open Access
9 Citations
4,011 Views
26 Pages

Stem cells are highly important in biology due to their unique innate ability to self-renew and differentiate into other specialised cells. In a neurological context, treating major injuries such as traumatic brain injury, spinal cord injury and stro...

  • Article
  • Open Access
2,869 Views
14 Pages

HGPRT and PNP: Recombinant Enzymes from Schistosoma mansoni and Their Role in Immunotherapy during Experimental Murine Schistosomiasis

  • Bruna Dias de Lima Fragelli,
  • Ana Carolina Maragno Fattori,
  • Elisandra de Almeida Montija,
  • Joice Margareth de Almeida Rodolpho,
  • Cynthia Aparecida de Castro,
  • Krissia Franco de Godoy,
  • Camila Tita Nogueira,
  • Vanderlei Rodrigues,
  • Edson Garcia Soares and
  • Fernanda de Freitas Anibal
  • + 3 authors

Schistosomiasis is a parasitic infection caused by trematode worms (also called blood flukes) of the genus Schistosoma sp., which affects over 230 million people worldwide, causing 200,000 deaths annually. There is no vaccine or new drugs available,...

  • Article
  • Open Access
3 Citations
2,784 Views
17 Pages

Human Papillomavirus E7 and p16INK4a mRNA Multiplexed Quantification by a QuantiGeneTM Proof-of-Concept Assay Sensitively Detects Infection and Cervical Dysplasia Severity

  • Anna Sophie Skof,
  • Lina Rotenberg,
  • Paul Viktor Felix Hannemann,
  • Sarah Thies,
  • Eleonora Boschetti-Grützmacher and
  • Andreas M. Kaufmann

Background: Persistent infection with human papillomavirus (HPV) can lead to cervical cancer (CxCa). During the progression to CxCa, the expression of HPV oncogenes E6 and E7 is upregulated. In turn, cellular proteins such as p16INK4a are also modula...

  • Article
  • Open Access
20 Citations
6,881 Views
12 Pages

One-Pot Multi-Enzymatic Production of Purine Derivatives with Application in Pharmaceutical and Food Industry

  • Javier Acosta,
  • Jon Del Arco,
  • Sara Martinez-Pascual,
  • Vicente Javier Clemente-Suárez and
  • Jesús Fernández-Lucas

1 January 2018

Biocatalysis reproduce nature’s synthetic strategies in order to synthesize different organic compounds. Natural metabolic pathways usually involve complex networks to support cellular growth and survival. In this regard, multi-enzymatic systems are...

  • Review
  • Open Access
2,000 Views
9 Pages

DNA Repair and Mutagenesis of ADP-Ribosylated DNA by Pierisin

  • Masanobu Kawanishi,
  • Takashi Yagi,
  • Yukari Totsuka and
  • Keiji Wakabayashi

26 July 2024

Pierisin is a DNA-targeting ADP-ribosyltransferase found in cabbage white butterfly (Pieris rapae). Pierisin transfers an ADP-ribosyl moiety to the 2-amino group of the guanine residue in DNA, yielding N2-(ADP-ribos-1-yl)-2′-deoxyguanosine (N2-...

  • Article
  • Open Access
13 Citations
5,760 Views
23 Pages

Novel Purine Chemotypes with Activity against Plasmodium falciparum and Trypanosoma cruzi

  • Nieves Martinez-Peinado,
  • Álvaro Lorente-Macías,
  • Alejandro García-Salguero,
  • Nuria Cortes-Serra,
  • Ángel Fenollar-Collado,
  • Albert Ros-Lucas,
  • Joaquim Gascon,
  • Maria-Jesus Pinazo,
  • Ignacio J. Molina and
  • Julio Alonso-Padilla
  • + 4 authors

Malaria and Chagas disease, caused by Plasmodium spp. and Trypanosoma cruzi parasites, remain important global health problems. Available treatments for those diseases present several limitations, such as lack of efficacy, toxic side effects, and dru...

  • Article
  • Open Access
14 Citations
5,199 Views
13 Pages

One-Pot, One-Step Production of Dietary Nucleotides by Magnetic Biocatalysts

  • Jon Del Arco,
  • Sara Martínez-Pascual,
  • Vicente Javier Clemente-Suárez,
  • Octavio Jorge Corral,
  • Justin Jordaan,
  • Daniel Hormigo,
  • Almudena Perona and
  • Jesús Fernández-Lucas

30 April 2018

The enzymatic synthesis of nucleotides offers several advantages over traditional multistep chemical methods, such as stereoselectivity, regioselectivity, enantioselectivity, simple downstream processing, and the use of mild reaction conditions. Howe...

  • Article
  • Open Access
19 Citations
4,613 Views
16 Pages

25 January 2022

A novel and efficient immunoaffinity column (IAC) based on bispecific monoclonal antibody (BsMAb) recognizing aflatoxin B1 (AFB1) and ochratoxin A (OTA) was prepared and applied in simultaneous extraction of AFB1 and OTA from food samples and detecti...