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Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.
Morrison J, Altuwaijri NK, Brønstad K, Aksnes H, Alsaif HS, Evans A, Hashem M, Wheeler PG, Webb BD, Alkuraya FS, Arnesen T. Morrison J, et al. Among authors: aksnes h. Genet Med. 2021 Nov;23(11):2213-2218. doi: 10.1038/s41436-021-01264-0. Epub 2021 Jul 6. Genet Med. 2021. PMID: 34230638 Free PMC article.
(Hyper)tension release by N-terminal acetylation.
Aksnes H, Drazic A, Arnesen T. Aksnes H, et al. Trends Biochem Sci. 2015 Aug;40(8):422-4. doi: 10.1016/j.tibs.2015.05.003. Epub 2015 May 28. Trends Biochem Sci. 2015. PMID: 26027460
Holding it together: Naa60 at the Golgi.
Aksnes H, Marie M, Arnesen T. Aksnes H, et al. Oncotarget. 2015 Jun 30;6(18):15726-7. doi: 10.18632/oncotarget.4779. Oncotarget. 2015. PMID: 26164078 Free PMC article. No abstract available.
30 results