مورد إلكتروني
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)
| العنوان: | Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency) |
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| المؤلفون: | Lenherr, N, Christodoulou, J, Duley, J, Dobritzsch, D, Fairbanks, L, Datta, AN, Filges, I, Guertler, N, Roelofsen, J, van Kuilenburg, ABP, Kemper, C, West, EE, Szinnai, G, Huemer, M |
| بيانات النشر: | ELSEVIER 2021-01-20 |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Arts syndrome or phosphoribosyl-pyrophosphate-synthetase-1 (PRPS1) deficiency is caused by loss-of-function mutations in the PRPS1 gene (Xq22.3). PRPS1 is an initial and essential step for the synthesis of the nucleotides of purines, pyrimidines, and nicotinamide. Classically, affected males present with sensorineural hearing loss, optic atrophy, muscular hypotonia, developmental impairment, and recurrent severe respiratory infections early in life. Treatment of a 3-year old boy with S-adenosylmethionine (SAM) replenished erythrocyte purine nucleotides of adenosine and guanosine, while SAM and nicotinamide riboside co-therapy further improved his clinical phenotype as well as T-cell survival and function. |
| مصطلحات الفهرس: | Journal Article |
| URL: | |
| الإتاحة: | Open access content. Open access content CC BY-NC-ND https://creativecommons.org/licenses/by-nc-nd/4.0 |
| أرقام أخرى: | UMV oai:jupiter.its.unimelb.edu.au:11343/272789 Lenherr, N., Christodoulou, J., Duley, J., Dobritzsch, D., Fairbanks, L., Datta, A. N., Filges, I., Guertler, N., Roelofsen, J., van Kuilenburg, A. B. P., Kemper, C., West, E. E., Szinnai, G. & Huemer, M. (2021). Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency). MOLECULAR GENETICS AND METABOLISM REPORTS, 26, https://doi.org/10.1016/j.ymgmr.2021.100709. 10.1016/j.ymgmr.2021.100709 2214-4269 2214-4269 1315712894 |
| المصدر المساهم: | UNIV OF MELBOURNE From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1315712894 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |