Zobrazeno 1 - 10
of 2 992
pro vyhledávání: '"hypoxanthine-guanine phosphoribosyltransferase"'
Autor:
Céline Petitgas, Laurent Seugnet, Amina Dulac, Giorgio Matassi, Ali Mteyrek, Rebecca Fima, Marion Strehaiano, Joana Dagorret, Baya Chérif-Zahar, Sandrine Marie, Irène Ceballos-Picot, Serge Birman
Publikováno v:
eLife, Vol 12 (2024)
Adenine phosphoribosyltransferase (APRT) and hypoxanthine-guanine phosphoribosyltransferase (HGPRT) are two structurally related enzymes involved in purine recycling in humans. Inherited mutations that suppress HGPRT activity are associated with Lesc
Externí odkaz:
https://doaj.org/article/a6c4700cc47642c5b46c1c2efc74abf6
Autor:
Khue Vu Nguyen
Publikováno v:
AIMS Neuroscience, Vol 9, Iss 2, Pp 175-215 (2022)
A heterozygous Arg393His point mutation at the reactive site of antithrombin (AT) gene causing thrombosis in a Vietnamese patient is reported and named as Arg393His in AT-Hanoi. The present variant is characterized by a severe reduction of functional
Externí odkaz:
https://doaj.org/article/1f5c51639c4a4885a406cbcd8a40b05c
Autor:
Dan Liu, Xing Jin, Guanzhen Yu, Mingsong Wang, Lei Liu, Wenjuan Zhang, Jia Wu, Fengying Wang, Jing Yang, Qin Luo, Lili Cai, Xi Yang, Xisong Ke, Yi Qu, Zhenye Xu, Lijun Jia, Wen-Lian Chen
Publikováno v:
Molecular Therapy: Oncolytics, Vol 23, Iss , Pp 107-123 (2021)
Metabolic reprogramming is a core hallmark of cancer and is key for tumorigenesis and tumor progression. Investigation of metabolic perturbation by anti-cancer compounds would allow a thorough understanding of the underlying mechanisms of these agent
Externí odkaz:
https://doaj.org/article/c84ed287fd68418eacb0ca80bdd3f843
Autor:
Khue Vu Nguyen
Publikováno v:
AIMS Neuroscience, Vol 8, Iss 4, Pp 548-557 (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. Despite having been characterized over 60 years ag
Externí odkaz:
https://doaj.org/article/87a45eae98444dcf8a8626b01e50e7e2
Autor:
Julie A. Reisz, Monika Dzieciatkowska, Daniel Stephenson, Fabia Gamboni, D. Holmes Morton, Angelo D’Alessandro
Publikováno v:
Antioxidants, Vol 12, Iss 9, p 1699 (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 intellectual d
Externí odkaz:
https://doaj.org/article/68b8dd3ed05242758390ab589e0becfe
Autor:
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
Publikováno v:
Cancer Cell International, Vol 20, Iss 1, Pp 1-15 (2020)
Abstract 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. With 4.3% of all new cancers diagnosed as Non
Externí odkaz:
https://doaj.org/article/67a3eff2e7cf4eb580f334fd9da89878
Autor:
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, Humberto D. Pereira, Fernanda de F. Anibal
Publikováno v:
Pathogens, Vol 12, Iss 1, p 69 (2023)
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
Externí odkaz:
https://doaj.org/article/bdad1b6e932f4438b877cbcb34c01efd
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Autor:
Michelle H. Townsend, Abigail M. Felsted, Zac E. Ence, Stephen R. Piccolo, Richard A. Robison, Kim L. O’Neill
Publikováno v:
Molecular & Cellular Oncology, Vol 6, Iss 2, Pp 1-10 (2019)
HPRT is a housekeeping enzyme involved in recycling guanine and inosine in the purine salvage pathway. As a housekeeping gene, HPRT has been widely used as an endogenous control for molecular studies evaluating changes in gene expression. Yet, recent
Externí odkaz:
https://doaj.org/article/fcba7383230242058ab0e332506342b9
Autor:
Laura E. Laróvere, Lynette D. Fairbanks, H. A. Jinnah, Norberto B. Guelbert, Emilia Escuredo, Adriana Becerra, Raquel Dodelson de Kremer
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract 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 hyp
Externí odkaz:
https://doaj.org/article/ff16c313e79a4724aba91300ea38e186