Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

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...

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Bibliografske podrobnosti
izdano v:Mol Genet Metab Rep
Main Authors: Lenherr, Nina, Christodoulou, John, Duley, John, Dobritzsch, Doreen, Fairbanks, Lynette, Datta, Alexandre N., Filges, Isabel, Gürtler, Nicolas, Roelofsen, Jeroen, van Kuilenburg, André B.P., Kemper, Claudia, West, Erin E., Szinnai, Gabor, Huemer, Martina
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2021
Teme:
Case Report
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7823043/
https://ncbi.nlm.nih.gov/pubmed/33532242
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100709
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