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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: aksnes h. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 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
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.
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.
Actin finally matures: uncovering machinery and impact.
Arnesen T, Aksnes H. Arnesen T, et al. Among authors: aksnes h. Trends Biochem Sci. 2023 May;48(5):414-416. doi: 10.1016/j.tibs.2023.02.002. Epub 2023 Feb 17. Trends Biochem Sci. 2023. PMID: 36804256 Free article.
NATs at a glance.
Aksnes H, McTiernan N, Arnesen T. Aksnes H, et al. J Cell Sci. 2023 Jul 15;136(14):jcs260766. doi: 10.1242/jcs.260766. Epub 2023 Jul 18. J Cell Sci. 2023. PMID: 37462250 Review.
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