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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: mirmira rg. 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.
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: mirmira rg. Sci Signal. 2019 Dec 3;12(610):eaax0715. doi: 10.1126/scisignal.aax0715. Sci Signal. 2019. PMID: 31796630 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: mirmira rg. 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.
192 results