{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Lyon GJ"],"funding":["Research Council of Norway","Departamento de Desarrollo Económico del Gobierno de Navarra","Ministerio Español de Economía y Competitividad Torres Quevedo Program","NIGMS NIH HHS","NIGMS"],"pagination":["e0301328"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11075865"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["19(5)"],"pubmed_abstract":["Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. There is extensive genetic variation in humans with missense, splice-site, and C-terminal frameshift variants in NAA10. In mice, Naa10 is not an essential gene, as there exists a paralogous gene, Naa12, that substantially rescues Naa10 knockout mice from embryonic lethality, whereas double knockouts (Naa10-/Y Naa12-/-) are embryonic lethal. However, the phenotypic variability in the mice is nonetheless quite extensive, including piebaldism, skeletal defects, small size, hydrocephaly, hydronephrosis, and neonatal l"],"journal":["PloS one"],"pubmed_title":["Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice."],"pmcid":["PMC11075865"],"funding_grant_id":["PTQ-13-06466","R35-GM-133408","0011-1383-2018-000011","249843","R35 GM133408"],"pubmed_authors":["Lyon GJ","Nashat MA","Inusa F","Garcia A","Marchi E","Arnesen T","Lyons S","Shi D","Dorfel M","Aldabe R","Bolton D","Longo J"],"additional_accession":[]},"is_claimable":false,"name":"Evaluating possible maternal effect lethality and genetic background effects in Naa10 knockout mice.","description":"Amino-terminal (Nt-) acetylation (NTA) is a common protein modification, affecting approximately 80% of all human proteins. The human essential X-linked gene, NAA10, encodes for the enzyme NAA10, which is the catalytic subunit in the N-terminal acetyltransferase A (NatA) complex. There is extensive genetic variation in humans with missense, splice-site, and C-terminal frameshift variants in NAA10. In mice, Naa10 is not an essential gene, as there exists a paralogous gene, Naa12, that substantially rescues Naa10 knockout mice from embryonic lethality, whereas double knockouts (Naa10-/Y Naa12-/-) are embryonic lethal. However, the phenotypic variability in the mice is nonetheless quite extensive, including piebaldism, skeletal defects, small size, hydrocephaly, hydronephrosis, and neonatal l","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024","modification":"2026-06-01T17:26:56.065Z","creation":"2026-04-08T14:14:33.438Z"},"accession":"S-EPMC11075865","cross_references":{"pubmed":["38713657"],"doi":["10.1371/journal.pone.0301328"]}}