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Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis.
Padgett LR, Shinkle MR, Rosario S, Stewart TM, Foley JR, Casero RA Jr, Park MH, Chung WK, Mastracci TL. Padgett LR, et al. Among authors: mastracci tl. HGG Adv. 2023 May 18;4(3):100206. doi: 10.1016/j.xhgg.2023.100206. eCollection 2023 Jul 13. HGG Adv. 2023. PMID: 37333770 Free PMC article.
Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder.
Ganapathi M, Padgett LR, Yamada K, Devinsky O, Willaert R, Person R, Au PB, Tagoe J, McDonald M, Karlowicz D, Wolf B, Lee J, Shen Y, Okur V, Deng L, LeDuc CA, Wang J, Hanner A, Mirmira RG, Park MH, Mastracci TL, Chung WK. Ganapathi M, et al. Among authors: mastracci tl. Am J Hum Genet. 2019 Feb 7;104(2):287-298. doi: 10.1016/j.ajhg.2018.12.017. Epub 2019 Jan 17. Am J Hum Genet. 2019. PMID: 30661771 Free PMC article.
Deoxyhypusine synthase promotes a pro-inflammatory macrophage phenotype.
Anderson-Baucum E, Piñeros AR, Kulkarni A, Webb-Robertson BJ, Maier B, Anderson RM, Wu W, Tersey SA, Mastracci TL, Casimiro I, Scheuner D, Metz TO, Nakayasu ES, Evans-Molina C, Mirmira RG. Anderson-Baucum E, et al. Among authors: mastracci tl. Cell Metab. 2021 Sep 7;33(9):1883-1893.e7. doi: 10.1016/j.cmet.2021.08.003. Cell Metab. 2021. PMID: 34496231 Free PMC article.
Hypusine biosynthesis in β cells links polyamine metabolism to facultative cellular proliferation to maintain glucose homeostasis.
Levasseur EM, Yamada K, Piñeros AR, Wu W, Syed F, Orr KS, Anderson-Baucum E, Mastracci TL, Maier B, Mosley AL, Liu Y, Bernal-Mizrachi E, Alonso LC, Scott D, Garcia-Ocaña A, Tersey SA, Mirmira RG. Levasseur EM, et al. Among authors: mastracci tl. Sci Signal. 2019 Dec 3;12(610):eaax0715. doi: 10.1126/scisignal.aax0715. Sci Signal. 2019. PMID: 31796630 Free PMC article.
41 results