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Novel pathogenic COX20 variants causing dysarthria, ataxia, and sensory neuropathy.
Otero MG, Tiongson E, Diaz F, Haude K, Panzer K, Collier A, Kim J, Adams D, Tifft CJ, Cui H, Millian Zamora F, Au MG, Graham JM Jr, Buckley DJ, Lewis R, Toro C, Bai R, Turner L, Mathews KD, Gahl W, Pierson TM. . Curr Drug Abuse Rev. 2010 Jun;3(2):76-9. doi: 10.2174/1874473711003020076. Curr Drug Abuse Rev. 2010. PMID: 20712591 Review. .
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. . Zhang W, et al. N Engl J Med. 2021 Aug 30. doi: 10.1056/NEJMoa2111437. Online ahead of print. N Engl J Med. 2021. PMID: 34491661 . Int Angiol. 1988 Apr-Jun;7(2 Suppl):17-9. Int Angiol. 1988. PMID: 3183452
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