{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T17:52:06Z","timestamp":1789581126497,"version":"build-2803163510"},"reference-count":69,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2019,6,7]],"date-time":"2019-06-07T00:00:00Z","timestamp":1559865600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2019,6,7]],"date-time":"2019-06-07T00:00:00Z","timestamp":1559865600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005416","name":"Norges Forskningsr\u00e5d","doi-asserted-by":"publisher","award":["249843"],"award-info":[{"award-number":["249843"]}],"id":[{"id":"10.13039\/501100005416","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005029","name":"Helse Vest Regionalt Helsef\u00f8retak","doi-asserted-by":"publisher","award":["912176"],"award-info":[{"award-number":["912176"]}],"id":[{"id":"10.13039\/501100005029","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008730","name":"Kreftforeningen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008730","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006475","name":"Bergens Forskningsstiftelse","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100006475","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2019,12]]},"DOI":"10.1186\/s12881-019-0803-1","type":"journal-article","created":{"date-parts":[[2019,6,7]],"date-time":"2019-06-07T11:02:52Z","timestamp":1559905372000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":28,"title":["A novel NAA10 p.(R83H) variant with impaired acetyltransferase activity identified in two boys with ID and microcephaly"],"prefix":"10.1186","volume":"20","author":[{"name":"DDD study","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rasmus","family":"Ree","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anni Sofie","family":"Geithus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pernille Mathiesen","family":"T\u00f8rring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristina Pilek\u00e6r","family":"S\u00f8rensen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mads","family":"Damkj\u00e6r","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sally Ann","family":"Lynch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3005-147X","authenticated-orcid":false,"given":"Thomas","family":"Arnesen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2019,6,7]]},"reference":[{"issue":"9","key":"803_CR1","doi-asserted-by":"publisher","first-page":"746","DOI":"10.1016\/j.tibs.2016.07.005","volume":"41","author":"H Aksnes","year":"2016","unstructured":"Aksnes H, Drazic A, Marie M, Arnesen T. First things first: vital protein Marks by N-terminal acetyltransferases. Trends Biochem Sci. 2016;41(9):746\u201360.","journal-title":"Trends Biochem Sci"},{"issue":"1","key":"803_CR2","doi-asserted-by":"publisher","first-page":"212","DOI":"10.1016\/j.abb.2004.09.003","volume":"433","author":"MW Vetting","year":"2005","unstructured":"Vetting MW, et al. Structure and functions of the GNAT superfamily of acetyltransferases. Arch Biochem Biophys. 2005;433(1):212\u201326.","journal-title":"Arch Biochem Biophys"},{"issue":"5968","key":"803_CR3","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1126\/science.1183147","volume":"327","author":"C-S Hwang","year":"2010","unstructured":"Hwang C-S, Shemorry A, Varshavsky A. N-terminal acetylation of cellular proteins creates specific degradation signals. Science. 2010;327(5968):973\u20137.","journal-title":"Science"},{"key":"803_CR4","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.molcel.2013.03.018","volume":"50","author":"A Shemorry","year":"2013","unstructured":"Shemorry A, Hwang C, Varshavsky A. Article control of protein quality and Stoichiometries by N-terminal acetylation and the N-end rule pathway. Mol Cell. 2013;50:1\u201312.","journal-title":"Mol Cell"},{"issue":"6227","key":"803_CR5","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1126\/science.aaa3844","volume":"347","author":"S-E Park","year":"2015","unstructured":"Park S-E, et al. Control of mammalian G protein signaling by N-terminal acetylation and the N-end rule pathway. Science. 2015;347(6227):1249\u201352.","journal-title":"Science"},{"issue":"7","key":"803_CR6","doi-asserted-by":"publisher","first-page":"1956","DOI":"10.1093\/hmg\/ddu611","volume":"24","author":"LM Myklebust","year":"2015","unstructured":"Myklebust LM, et al. Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects. Hum Mol Genet. 2015;24(7):1956\u201376.","journal-title":"Hum Mol Genet"},{"key":"803_CR7","doi-asserted-by":"publisher","first-page":"1547","DOI":"10.1105\/tpc.15.00173","volume":"27","author":"F Xu","year":"2015","unstructured":"Xu F, et al. Two N-terminal acetyltransferases antagonistically regulate the stability of a nod-like receptor in Arabidopsis. Plant Cell. 2015;27:1547\u201362.","journal-title":"Plant Cell"},{"key":"803_CR8","doi-asserted-by":"publisher","first-page":"4383","DOI":"10.1038\/ncomms5383","volume":"5","author":"WM Holmes","year":"2014","unstructured":"Holmes WM, Mannakee BK, Gutenkunst RN, Serio TR. Loss of amino-terminal acetylation suppresses a prion phenotype by modulating global protein folding. Nat Commun. 2014;5:4383.","journal-title":"Nat Commun"},{"issue":"5","key":"803_CR9","doi-asserted-by":"publisher","first-page":"601","DOI":"10.1002\/pro.2056","volume":"21","author":"AJ Trexler","year":"2012","unstructured":"Trexler AJ, Rhoades E. N-terminal acetylation is critical for forming alpha-helical oligomer of alpha-synuclein. Protein Sci. 2012;21(5):601\u20135.","journal-title":"Protein Sci"},{"issue":"7","key":"803_CR10","doi-asserted-by":"publisher","first-page":"e103727","DOI":"10.1371\/journal.pone.0103727","volume":"9","author":"T Bartels","year":"2014","unstructured":"Bartels T, Kim NC, Luth ES, Selkoe DJ. N-alpha-acetylation of \u03b1-synuclein increases its helical folding propensity, GM1 binding specificity and resistance to aggregation. PLoS One. 2014;9(7):e103727.","journal-title":"PLoS One"},{"issue":"8","key":"803_CR11","doi-asserted-by":"publisher","first-page":"1898","DOI":"10.1128\/MCB.01199-09","volume":"30","author":"T Arnesen","year":"2010","unstructured":"Arnesen T, et al. The chaperone-like protein HYPK acts together with NatA in Cotranslational N-terminal acetylation and prevention of huntingtin aggregation \u2020. Mol Cell Biol. 2010;30(8):1898\u2013909.","journal-title":"Mol Cell Biol"},{"issue":"6056","key":"803_CR12","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1126\/science.1209307","volume":"334","author":"DC Scott","year":"2011","unstructured":"Scott DC, Monda JK, Bennett EJ, Harper JW, Schulman BA. N-terminal acetylation acts as an avidity enhancer within an interconnected multiprotein complex. Science. 2011;334(6056):674\u20138.","journal-title":"Science"},{"issue":"1","key":"803_CR13","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.str.2012.10.013","volume":"21","author":"JK Monda","year":"2013","unstructured":"Monda JK, et al. Structural conservation of distinctive N-terminal acetylation-dependent interactions across a family of mammalian NEDD8 ligation enzymes. Structure. 2013;21(1):42\u201353.","journal-title":"Structure"},{"issue":"9","key":"803_CR14","doi-asserted-by":"publisher","first-page":"1116","DOI":"10.1038\/nsmb.2637","volume":"20","author":"D Yang","year":"2013","unstructured":"Yang D, et al. N\u03b1-acetylated Sir3 stabilizes the conformation of a nucleosome-binding loop in the BAH domain. Nat Struct Mol Biol. 2013;20(9):1116\u20138.","journal-title":"Nat Struct Mol Biol"},{"issue":"9","key":"803_CR15","doi-asserted-by":"publisher","first-page":"1119","DOI":"10.1038\/nsmb.2641","volume":"20","author":"N Arnaudo","year":"2013","unstructured":"Arnaudo N, Fern\u00e1ndez IS, Mclaughlin SH, Peak-chew SY, Rhodes D, Martino F. The N-terminal acetylation of Sir3 stabilizes its binding to the nucleosome core particle. Nat Struct Mol Biol. 2013;20(9):1119\u201321.","journal-title":"Nat Struct Mol Biol"},{"issue":"5","key":"803_CR16","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1038\/ncb1121","volume":"6","author":"SRG Setty","year":"2004","unstructured":"Setty SRG, Strochlic TI, Tong AHY, Boone C, Burd CG. Golgi targeting of ARF-like GTPase Arl3p requires its Nalpha-acetylation and the integral membrane protein Sys1p. Nat Cell Biol. 2004;6(5):414\u20139.","journal-title":"Nat Cell Biol"},{"issue":"5","key":"803_CR17","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/ncb1120","volume":"6","author":"R Behnia","year":"2004","unstructured":"Behnia R, Panic B, Whyte JRC, Munro S. Targeting of the Arf-like GTPase Arl3p to the Golgi requires N-terminal acetylation and the membrane protein Sys1p. Nat Cell Biol. 2004;6(5):405\u201313.","journal-title":"Nat Cell Biol"},{"issue":"6","key":"803_CR18","doi-asserted-by":"publisher","first-page":"3652","DOI":"10.1074\/jbc.M113.512459","volume":"289","author":"I Dikiy","year":"2014","unstructured":"Dikiy I, Eliezer D. N-terminal acetylation stabilizes N-terminal helicity in lipid- and micelle-bound \u03b1-Synuclein and increases its affinity for physiological membranes. J Biol Chem. 2014;289(6):3652\u201365.","journal-title":"J Biol Chem"},{"issue":"5","key":"803_CR19","doi-asserted-by":"publisher","first-page":"e1001073","DOI":"10.1371\/journal.pbio.1001073","volume":"9","author":"GMA Forte","year":"2011","unstructured":"Forte GMA, Pool MR, Stirling CJ. N-terminal acetylation inhibits protein targeting to the endoplasmic reticulum. PLoS Biol. 2011;9(5):e1001073.","journal-title":"PLoS Biol"},{"issue":"8","key":"803_CR20","doi-asserted-by":"publisher","first-page":"1362","DOI":"10.1016\/j.celrep.2015.01.053","volume":"10","author":"H Aksnes","year":"2015","unstructured":"Aksnes H, et al. An organellar n\u03b1-acetyltransferase, naa60, acetylates cytosolic n termini of transmembrane proteins and maintains golgi integrity. Cell Rep. 2015;10(8):1362\u201374.","journal-title":"Cell Rep"},{"issue":"7","key":"803_CR21","doi-asserted-by":"publisher","first-page":"e1002169","DOI":"10.1371\/journal.pgen.1002169","volume":"7","author":"P Van Damme","year":"2011","unstructured":"Van Damme P, et al. NatF contributes to an evolutionary shift in protein N-terminal acetylation and is important for Normal chromosome segregation. PLoS Genet. Jul. 2011;7(7):e1002169.","journal-title":"PLoS Genet"},{"issue":"14","key":"803_CR22","doi-asserted-by":"publisher","first-page":"2426","DOI":"10.1002\/pmic.201500025","volume":"15","author":"TV Dinh","year":"2015","unstructured":"Dinh TV, et al. Molecular identification and functional characterization of the first N-alpha-acetyltransferase in plastids by global acetylome profiling. Proteomics. 2015;15(14):2426\u201335.","journal-title":"Proteomics"},{"issue":"17","key":"803_CR23","doi-asserted-by":"publisher","first-page":"4399","DOI":"10.1073\/pnas.1718336115","volume":"115","author":"A Drazic","year":"2018","unstructured":"Drazic A, et al. NAA80 is actin\u2019s N-terminal acetyltransferase and regulates cytoskeleton assembly and cell motility. Proc Natl Acad Sci. 2018;115(17):4399\u2013404.","journal-title":"Proc Natl Acad Sci"},{"issue":"17","key":"803_CR24","doi-asserted-by":"publisher","first-page":"4405","DOI":"10.1073\/pnas.1719251115","volume":"115","author":"M Goris","year":"2018","unstructured":"Goris M, et al. Structural determinants and cellular environment define processed actin as the sole substrate of the N-terminal acetyltransferase NAA80. Proc Natl Acad Sci. 2018;115(17):4405\u201310.","journal-title":"Proc Natl Acad Sci"},{"issue":"17","key":"803_CR25","doi-asserted-by":"publisher","first-page":"3299","DOI":"10.1111\/febs.14605","volume":"285","author":"E Wiame","year":"2018","unstructured":"Wiame E, et al. NAT6 acetylates the N-terminus of different forms of actin. FEBS J. 2018;285(17):3299\u2013316.","journal-title":"FEBS J"},{"issue":"7","key":"803_CR26","doi-asserted-by":"publisher","first-page":"2067","DOI":"10.1002\/j.1460-2075.1989.tb03615.x","volume":"8","author":"JR Mullen","year":"1989","unstructured":"Mullen JR, et al. Identification and characterization of genes and mutants for an N-terminal acetyltransferase from yeast. EMBO J. 1989;8(7):2067\u201375.","journal-title":"EMBO J"},{"issue":"6","key":"803_CR27","doi-asserted-by":"publisher","first-page":"2087","DOI":"10.1002\/j.1460-2075.1992.tb05267.x","volume":"11","author":"E Park","year":"1992","unstructured":"Park E, Szostak JW. ARD1 and NAT1 proteins form a complex that has N-terminal acetyltransferase activity. EMBO J. 1992;11(6):2087\u201393.","journal-title":"EMBO J"},{"issue":"2","key":"803_CR28","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1016\/j.gene.2005.12.008","volume":"371","author":"T Arnesen","year":"2006","unstructured":"Arnesen T, Anderson D, Torsvik J, Halseth HB, Varhaug JE, Lillehaug JR. Cloning and characterization of hNAT5\/hSAN: an evolutionarily conserved component of the NatA protein N-\u03b1-acetyltransferase complex. Gene. 2006;371(2):291\u20135.","journal-title":"Gene"},{"issue":"3","key":"803_CR29","doi-asserted-by":"publisher","first-page":"433","DOI":"10.1042\/BJ20041071","volume":"386","author":"T Arnesen","year":"2005","unstructured":"Arnesen T, Anderson D, Baldersheim C, Lanotte M, Varhaug JE, Lillehaug JR. Identification and characterization of the human ARD1\u2013NATH protein acetyltransferase complex. Biochem J. 2005;386(3):433\u201343.","journal-title":"Biochem J"},{"issue":"20","key":"803_CR30","doi-asserted-by":"publisher","first-page":"8157","DOI":"10.1073\/pnas.0901931106","volume":"106","author":"T Arnesen","year":"2009","unstructured":"Arnesen T, Van Damme P, Polevoda B, Helsens K, Evjenth R, Colaert N. Proteomics analyses reveal the evolutionary conservation and divergence of N-terminal acetyltransferases from yeast and humans. Proc Natl Acad Sci. 2009;106(20):8157\u201362.","journal-title":"Proc Natl Acad Sci"},{"issue":"5","key":"803_CR31","doi-asserted-by":"publisher","DOI":"10.1074\/mcp.M110.004580","volume":"10","author":"P Van Damme","year":"2011","unstructured":"Van Damme P, et al. Proteome-derived peptide libraries allow detailed analysis of the substrate specificities of N\u03b1-acetyltransferases and point to hNaa10p as the post-translational actin N\u03b1-acetyltransferase. Mol Cell Proteomics. 2011;10(5):M110.004580.","journal-title":"Mol Cell Proteomics"},{"issue":"20","key":"803_CR32","doi-asserted-by":"publisher","first-page":"7403","DOI":"10.1128\/MCB.23.20.7403-7414.2003","volume":"23","author":"M Gautschi","year":"2003","unstructured":"Gautschi M, et al. The yeast N\u03b1-acetyltransferase NatA is quantitatively anchored to the ribosome and interacts with nascent polypeptides. Mol Cell Biol. 2003;23(20):7403\u201314.","journal-title":"Mol Cell Biol"},{"issue":"9","key":"803_CR33","doi-asserted-by":"publisher","first-page":"1098","DOI":"10.1038\/nsmb.2636","volume":"20","author":"G Liszczak","year":"2013","unstructured":"Liszczak G, Goldberg JM, Foyn H, Petersson EJ, Arnesen T, Marmorstein R. Molecular basis for N-terminal acetylation by the heterodimeric NatA complex. Nat Struct Mol Biol. 2013;20(9):1098\u2013105.","journal-title":"Nat Struct Mol Biol"},{"issue":"1","key":"803_CR34","doi-asserted-by":"publisher","first-page":"89","DOI":"10.1016\/j.molcel.2017.08.025","volume":"68","author":"CC Lee","year":"2017","unstructured":"Lee CC, et al. The role of N-\u03b1-acetyltransferase 10 protein in DNA methylation and genomic imprinting. Mol Cell. 2017;68(1):89\u2013103.e7.","journal-title":"Mol Cell"},{"key":"803_CR35","doi-asserted-by":"publisher","first-page":"90","DOI":"10.1038\/s12276-018-0116-z","volume":"50","author":"R Ree","year":"2018","unstructured":"Ree R, Varland S, Arnesen T. Spotlight on protein N-terminal acetylation. Exp Mol Med. 2018;50:90.","journal-title":"Exp Mol Med"},{"issue":"September","key":"803_CR36","doi-asserted-by":"publisher","first-page":"364","DOI":"10.1016\/j.redox.2018.09.002","volume":"19","author":"J Kang","year":"2018","unstructured":"Kang J, Chun Y, Huh J, Park J. FIH permits NAA10 to catalyze the oxygen-dependent lysyl-acetylation of HIF-1\u03b1. Redox Biol. 2018;19(September):364\u201374.","journal-title":"Redox Biol"},{"key":"803_CR37","doi-asserted-by":"publisher","first-page":"917","DOI":"10.1016\/j.molcel.2017.01.027","volume":"65","author":"X Qian","year":"2017","unstructured":"Qian X, et al. Phosphoglycerate kinase 1 phosphorylates Beclin1 to induce autophagy. Mol Cell. 2017;65:917\u201331.","journal-title":"Mol Cell"},{"issue":"13","key":"803_CR38","doi-asserted-by":"publisher","first-page":"5177","DOI":"10.1158\/0008-5472.CAN-07-6234","volume":"68","author":"JH Lim","year":"2008","unstructured":"Lim JH, Chun YS, Park JW. Hypoxia-inducible factor-1\u03b1 obstructs a wnt signaling pathway by inhibiting the hARD1-mediated activation of \u03b2-catenin. Cancer Res. 2008;68(13):5177\u201384.","journal-title":"Cancer Res"},{"key":"803_CR39","doi-asserted-by":"publisher","first-page":"e00249","DOI":"10.1042\/BSR20150168","volume":"35","author":"R Ree","year":"2015","unstructured":"Ree R, Myklebust LM, Thiel P, Foyn H, Fladmark KE, Arnesen T. The N-terminal acetyltransferase Naa10 is essential for zebrafish development. Biosci Rep. 2015;35:e00249.","journal-title":"Biosci Rep"},{"key":"803_CR40","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1016\/S0166-6851(00)00322-4","volume":"111","author":"AK Ingram","year":"2000","unstructured":"Ingram AK, Cross GAM, Horn D. Genetic manipulation indicates that ARD1 is an essential N\u03b1-acetyltransferase in Trypanosoma brucei. Mol Biochem Parasitol. 2000;111:309\u201317.","journal-title":"Mol Biochem Parasitol"},{"key":"803_CR41","doi-asserted-by":"publisher","first-page":"2813","DOI":"10.1002\/dvdy.22418","volume":"239","author":"Y Wang","year":"2010","unstructured":"Wang Y, et al. Drosophila variable nurse cells encodes arrest defective 1 (ARD1), the catalytic subunit of the major N-terminal acetyltransferase complex. Dev Dyn. 2010;239:2813\u201327.","journal-title":"Dev Dyn"},{"key":"803_CR42","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.ajhg.2011.07.008","volume":"89","author":"AF Rope","year":"2011","unstructured":"Rope AF, et al. Using VAAST to identify an X-linked disorder resulting in lethality in male infants due to N-terminal acetyltransferase deficiency. Am J Hum Genet. 2011;89:1\u201316.","journal-title":"Am J Hum Genet"},{"issue":"3","key":"803_CR43","doi-asserted-by":"publisher","first-page":"185","DOI":"10.1136\/jmedgenet-2013-101660","volume":"51","author":"T Esmailpour","year":"2014","unstructured":"Esmailpour T, et al. A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome. J Med Genet. 2014;51(3):185\u201396.","journal-title":"J Med Genet"},{"issue":"5","key":"803_CR44","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1038\/ejhg.2014.150","volume":"23","author":"B Popp","year":"2015","unstructured":"Popp B, et al. De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females. Eur J Hum Genet. 2015;23(5):602\u20139.","journal-title":"Eur J Hum Genet"},{"key":"803_CR45","doi-asserted-by":"publisher","first-page":"120","DOI":"10.1016\/j.seizure.2018.06.008","volume":"60","author":"V Valentine","year":"2018","unstructured":"Valentine V, Sogawa Y, Rajan D, Ortiz D. A case of de novo NAA10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome). Seizure. 2018;60:120\u20132.","journal-title":"Seizure"},{"key":"803_CR46","doi-asserted-by":"publisher","first-page":"16022","DOI":"10.1038\/srep16022","volume":"5","author":"JP Casey","year":"2015","unstructured":"Casey JP, et al. NAA10 mutation causing a novel intellectual disability syndrome with long QT due to N-terminal acetyltransferase impairment. Sci Rep. 2015;5:16022.","journal-title":"Sci Rep"},{"issue":"9","key":"803_CR47","doi-asserted-by":"publisher","first-page":"1294","DOI":"10.1038\/s41431-018-0136-0","volume":"26","author":"SI St\u00f8ve","year":"2018","unstructured":"St\u00f8ve SI, et al. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018;26(9):1294\u2013305.","journal-title":"Eur J Hum Genet"},{"key":"803_CR48","doi-asserted-by":"publisher","first-page":"47","DOI":"10.1186\/s12881-018-0559-z","volume":"19","author":"N McTiernan","year":"2018","unstructured":"McTiernan N, et al. NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report. BMC Med Genet. 2018;19:47.","journal-title":"BMC Med Genet"},{"issue":"8","key":"803_CR49","doi-asserted-by":"publisher","first-page":"755","DOI":"10.1002\/humu.23001","volume":"37","author":"C Saunier","year":"2016","unstructured":"Saunier C, et al. Expanding the phenotype associated with NAA10-related N-terminal acetylation deficiency. Hum Mutat. 2016;37(8):755\u201364.","journal-title":"Hum Mutat"},{"issue":"7542","key":"803_CR50","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1038\/nature14135","volume":"519","author":"The Deciphering Developmental Disorders Study","year":"2015","unstructured":"The Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519(7542):223\u20138.","journal-title":"Nature"},{"key":"803_CR51","first-page":"1303","volume-title":"\u201cAligning sequence reads, clone sequences and assembly contigs with BWA-MEM,\u201d arXiv","author":"H Li","year":"2013","unstructured":"Li H. \u201cAligning sequence reads, clone sequences and assembly contigs with BWA-MEM,\u201d arXiv; 2013. p. 1303.3997v2 [q-bio.GN]."},{"key":"803_CR52","doi-asserted-by":"crossref","unstructured":"G. A. Van der Auwera et al., From fastQ data to high-confidence variant calls: The genome analysis toolkit best practices pipeline, no. SUPL.43. 2013.","DOI":"10.1002\/0471250953.bi1110s43"},{"issue":"21","key":"803_CR53","doi-asserted-by":"publisher","first-page":"2947","DOI":"10.1093\/bioinformatics\/btm404","volume":"23","author":"MA Larkin","year":"2007","unstructured":"Larkin MA, et al. Clustal W and Clustal X version 2.0. Bioinformatics. 2007;23(21):2947\u20138.","journal-title":"Bioinformatics"},{"issue":"9","key":"803_CR54","doi-asserted-by":"publisher","first-page":"1189","DOI":"10.1093\/bioinformatics\/btp033","volume":"25","author":"AM Waterhouse","year":"2009","unstructured":"Waterhouse AM, Procter JB, Martin DMA, Clamp M, Barton GJ. Jalview version 2-a multiple sequence alignment editor and analysis workbench. Bioinformatics. 2009;25(9):1189\u201391.","journal-title":"Bioinformatics"},{"key":"803_CR55","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.str.2018.04.003","volume":"26","author":"L Gottlieb","year":"2018","unstructured":"Gottlieb L, Marmorstein R. Structure of human NatA and its regulation by the huntingtin interacting protein HYPK article. Structure. 2018;26:1\u201311.","journal-title":"Structure"},{"key":"803_CR56","unstructured":"Schr\u00f6dinger LLC. The PyMOL molecular graphics system, version 1.8. 2015."},{"key":"803_CR57","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1093\/nar\/gkh381","volume":"32","author":"TJ Dolinsky","year":"2004","unstructured":"Dolinsky TJ, Nielsen JE, McCammon JA, Baker NA. PDB2PQR: an automated pipeline for the setup of Poisson-Boltzmann electrostatics calculations. Nucleic Acids Res. 2004;32:665\u20137.","journal-title":"Nucleic Acids Res"},{"key":"803_CR58","doi-asserted-by":"publisher","first-page":"W522","DOI":"10.1093\/nar\/gkm276","volume":"35","author":"TJ Dolinsky","year":"2007","unstructured":"Dolinsky TJ, et al. PDB2PQR: expanding and upgrading automated preparation of biomolecular structures for molecular simulations. Nucleic Acids Res. May 2007;35:W522\u20135.","journal-title":"Nucleic Acids Res"},{"key":"803_CR59","doi-asserted-by":"publisher","first-page":"112","DOI":"10.1002\/pro.3280","volume":"27","author":"E Jurrus","year":"2018","unstructured":"Jurrus E, et al. Improvements to the APBS biomolecular solvation software suite. Protein Sci. 2018;27:112\u201328.","journal-title":"Protein Sci"},{"issue":"3","key":"803_CR60","doi-asserted-by":"publisher","first-page":"765","DOI":"10.1021\/ja00315a051","volume":"106","author":"SJ Weiner","year":"1984","unstructured":"Weiner SJ, et al. A new force field for molecular mechanical simulation of nucleic acids and proteins. J Am Chem Soc. 1984;106(3):765\u201384.","journal-title":"J Am Chem Soc"},{"issue":"7","key":"803_CR61","doi-asserted-by":"publisher","first-page":"2284","DOI":"10.1021\/ct200133y","volume":"7","author":"CR S\u00f8ndergaard","year":"2011","unstructured":"S\u00f8ndergaard CR, Olsson MHM, Rostkowski M, Jensen JH. Improved treatment of ligands and coupling effects in empirical calculation and rationalization of p Kavalues. J Chem Theory Comput. 2011;7(7):2284\u201395.","journal-title":"J Chem Theory Comput"},{"key":"803_CR62","unstructured":"P. H. Network, \u201cHow do I calculate Echo Z-scores?\u201d [Online]. Available: \n                    http:\/\/www.pediatricheartnetwork.org\/ForResearchers\/EchoZ-Scores.aspx\n                    \n                  ."},{"issue":"4","key":"803_CR63","doi-asserted-by":"publisher","first-page":"641","DOI":"10.1016\/j.str.2017.03.003","volume":"25","author":"H Hong","year":"2017","unstructured":"Hong H, Cai Y, Zhang S, Ding H, Wang H, Han A. Molecular basis of substrate specific acetylation by N-terminal acetyltransferase NatB. Structure. 2017;25(4):641\u20139.","journal-title":"Structure"},{"issue":"2","key":"803_CR64","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1016\/j.str.2014.10.025","volume":"23","author":"RS Magin","year":"2015","unstructured":"Magin RS, Liszczak GP, Marmorstein R. The molecular basis for histone H4- and H2A-specific amino-terminal acetylation by NatD. Structure. 2015;23(2):332\u201341.","journal-title":"Structure"},{"issue":"42","key":"803_CR65","doi-asserted-by":"publisher","first-page":"37002","DOI":"10.1074\/jbc.M111.282863","volume":"286","author":"G Liszczak","year":"2011","unstructured":"Liszczak G, Arnesen T, Marmorsteins R. Structure of a ternary Naa50p (NAT5\/SAN) N-terminal acetyltransferase complex reveals the molecular basis for substrate-specific acetylation. J Biol Chem. 2011;286(42):37002\u201310.","journal-title":"J Biol Chem"},{"key":"803_CR66","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.str.2016.04.020","volume":"24","author":"SI St\u00f8ve","year":"2016","unstructured":"St\u00f8ve SI, Magin RS, Foyn H, Haug BE, Marmorstein R, Arnesen T. Crystal structure of the Golgi-associated human N\u03b1-acetyltransferase 60 reveals the molecular determinants for substrate-specific acetylation. Structure. 2016;24:1\u201313.","journal-title":"Structure"},{"issue":"9854","key":"803_CR67","doi-asserted-by":"publisher","first-page":"1674","DOI":"10.1016\/S0140-6736(12)61480-9","volume":"380","author":"A Rauch","year":"2012","unstructured":"Rauch A, et al. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet. 2012;380(9854):1674\u201382.","journal-title":"Lancet"},{"issue":"6","key":"803_CR68","doi-asserted-by":"publisher","first-page":"700","DOI":"10.1111\/cge.12732","volume":"89","author":"J Thevenon","year":"2016","unstructured":"Thevenon J, et al. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet. 2016;89(6):700\u20137.","journal-title":"Clin Genet"},{"issue":"5","key":"803_CR69","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/j.ajhg.2018.03.004","volume":"102","author":"H Cheng","year":"2018","unstructured":"Cheng H, et al. Truncating variants in NAA15 are associated with variable levels of intellectual disability, autism Spectrum disorder, and congenital anomalies. Am J Hum Genet. 2018;102(5):985\u201394.","journal-title":"Am J Hum Genet"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12881-019-0803-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/s12881-019-0803-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/s12881-019-0803-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2020,6,5]],"date-time":"2020-06-05T23:08:31Z","timestamp":1591398511000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/s12881-019-0803-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,6,7]]},"references-count":69,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2019,12]]}},"alternative-id":["803"],"URL":"https:\/\/doi.org\/10.1186\/s12881-019-0803-1","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,6,7]]},"assertion":[{"value":"21 December 2018","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 April 2019","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 June 2019","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"All parents have consented in writing to publication of these findings. Since the findings were a consequence of routine clinical evaluation and diagnostics, and further research did not require patient investigations that would not otherwise have been performed, ethical review board approvals are not required according to national rules.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Parents of both children gave written consent to publish this case report, including the medical data.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}},{"value":"Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Publisher\u2019s Note"}}],"article-number":"101"}}