{"id":"https://openalex.org/W2804337574","doi":"https://doi.org/10.1186/s12881-018-0559-z","title":"NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant \u2013 a case report","display_name":"NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant \u2013 a case report","publication_year":2018,"publication_date":"2018-03-20","ids":{"openalex":"https://openalex.org/W2804337574","doi":"https://doi.org/10.1186/s12881-018-0559-z","mag":"2804337574","pmid":"https://pubmed.ncbi.nlm.nih.gov/29558889","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/5859388"},"language":"en","primary_location":{"id":"doi:10.1186/s12881-018-0559-z","doi":"https://doi.org/10.1186/s12881-018-0559-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12881-018-0559-z","pdf_url":"https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/s12881-018-0559-z","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/s12881-018-0559-z","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5059200163","display_name":"Nina McTiernan","orcid":"https://orcid.org/0000-0002-1749-6933","observed_orcids":["https://orcid.org/0000-0002-1749-6933"]},"institutions":[{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Nina McTiernan","raw_affiliation_strings":["Department of Biological Sciences, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027097671","display_name":"Svein\u00a0Isungset St\u00f8ve","orcid":"https://orcid.org/0000-0002-4329-3961","observed_orcids":["https://orcid.org/0000-0002-4329-3961"]},"institutions":[{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Svein Isungset St\u00f8ve","raw_affiliation_strings":["Department of Biological Sciences, University of Bergen, Bergen, Norway","Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5056432749","display_name":"Ingvild Aukrust","orcid":"https://orcid.org/0000-0002-4379-5654","observed_orcids":["https://orcid.org/0000-0002-4379-5654"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Ingvild Aukrust","raw_affiliation_strings":["Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5046749266","display_name":"Marita Torrissen M\u00e5rli","orcid":"https://orcid.org/0009-0001-1535-7032","observed_orcids":["https://orcid.org/0009-0001-1535-7032"]},"institutions":[{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Marita Torrisen M\u00e5rli","raw_affiliation_strings":["Department of Biological Sciences, University of Bergen, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069005496","display_name":"Line Merethe Myklebust","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":false,"raw_author_name":"Line M. Myklebust","raw_affiliation_strings":["Department of Biological Sciences, University of Bergen, Bergen, Norway","Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Bergen, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075880630","display_name":"Gunnar Houge","orcid":"https://orcid.org/0000-0002-6102-1513","observed_orcids":["https://orcid.org/0000-0002-6102-1513"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]}],"countries":["NO"],"is_corresponding":true,"raw_author_name":"Gunnar Houge","raw_affiliation_strings":["Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway. gunnar.houge@helse-bergen.no","Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway. gunnar.houge@helse-bergen.no","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Department of Medical Genetics, Haukeland University Hospital, N-5021, Bergen, Norway","institution_ids":["https://openalex.org/I2800740805"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5032682346","display_name":"Thomas Arnesen","orcid":"https://orcid.org/0000-0002-3005-147X","observed_orcids":["https://orcid.org/0000-0002-3005-147X"]},"institutions":[{"id":"https://openalex.org/I2800740805","display_name":"Haukeland University Hospital","ror":"https://ror.org/03np4e098","country_code":"NO","type":"healthcare","lineage":["https://openalex.org/I2800740805"]},{"id":"https://openalex.org/I4432739","display_name":"University of Bergen","ror":"https://ror.org/03zga2b32","country_code":"NO","type":"education","lineage":["https://openalex.org/I4432739"]}],"countries":["NO"],"is_corresponding":true,"raw_author_name":"Thomas Arnesen","raw_affiliation_strings":["Department of Biological Sciences, University of Bergen, Bergen, Norway. Thomas.Arnesen@uib.no","Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway. Thomas.Arnesen@uib.no","Department of Surgery, Haukeland University Hospital, Bergen, Norway. Thomas.Arnesen@uib.no","Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway"],"raw_orcid":"https://orcid.org/0000-0002-3005-147X","affiliations":[{"raw_affiliation_string":"Department of Biological Sciences, University of Bergen, Bergen, Norway. Thomas.Arnesen@uib.no","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway. Thomas.Arnesen@uib.no","institution_ids":["https://openalex.org/I4432739"]},{"raw_affiliation_string":"Department of Surgery, Haukeland University Hospital, Bergen, Norway. Thomas.Arnesen@uib.no","institution_ids":["https://openalex.org/I2800740805"]},{"raw_affiliation_string":"Department of Biomedicine, University of Bergen, Jonas Lies vei 91, N-5020, Bergen, Norway","institution_ids":["https://openalex.org/I4432739"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5032682346","https://openalex.org/A5075880630"],"corresponding_institution_ids":["https://openalex.org/I2800740805","https://openalex.org/I4432739"],"apc_list":{"value":2380,"currency":"USD","value_usd":2380},"apc_paid":{"value":2380,"currency":"USD","value_usd":2380},"fwci":2.4897,"has_fulltext":true,"cited_by_count":34,"citation_normalized_percentile":{"value":0.89895268,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":91,"max":99},"biblio":{"volume":"19","issue":"1","first_page":"47","last_page":"47"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9028000235557556,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9028000235557556,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.08950000256299973,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.0010000000474974513,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/naa10","display_name":"NAA10","score":0.9950000047683716},{"id":"https://openalex.org/keywords/naa15","display_name":"NAA15","score":0.824999988079071},{"id":"https://openalex.org/keywords/n-terminal-acetyltransferase","display_name":"N-terminal acetyltransferase","score":0.8629999756813049},{"id":"https://openalex.org/keywords/non-syndromic-intellectual-disability","display_name":"non-syndromic intellectual disability","score":0.9010000228881836},{"id":"https://openalex.org/keywords/de-novo-missense-variant","display_name":"de novo missense variant","score":0.8489999771118164},{"id":"https://openalex.org/keywords/protein-stability","display_name":"protein stability","score":0.7580000162124634},{"id":"https://openalex.org/keywords/protein-acetylation","display_name":"protein acetylation","score":0.6549999713897705},{"id":"https://openalex.org/keywords/x-chromosome-inactivation","display_name":"X chromosome inactivation","score":0.5649999976158142}],"concepts":[{"id":"https://openalex.org/C16671776","wikidata":"https://www.wikidata.org/wiki/Q5420592","display_name":"Exome sequencing","level":4,"score":0.5700651407241821},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5279295444488525},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4700799286365509},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.457684189081192},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.25466352701187134},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.164244145154953}],"mesh":[{"descriptor_ui":"D000073359","descriptor_name":"Exome Sequencing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000107","descriptor_name":"Acetylation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000595","descriptor_name":"Amino Acid Sequence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D002658","descriptor_name":"Developmental Disabilities","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011487","descriptor_name":"Protein Conformation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016415","descriptor_name":"Sequence Alignment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D047468","descriptor_name":"Immunoprecipitation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D050172","descriptor_name":"Genes, X-Linked","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D063209","descriptor_name":"N-Terminal Acetyltransferase A","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D063213","descriptor_name":"N-Terminal Acetyltransferase E","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true}],"locations_count":5,"locations":[{"id":"doi:10.1186/s12881-018-0559-z","doi":"https://doi.org/10.1186/s12881-018-0559-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12881-018-0559-z","pdf_url":"https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/s12881-018-0559-z","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},{"id":"pmh:oai:pubmedcentral.nih.gov:5859388","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/5859388","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Med Genet","raw_type":"Text"},{"id":"pmid:29558889","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29558889","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC medical genetics","raw_type":"Case Reports"},{"id":"pmh:oai:bora.uib.no:1956/23602","doi":null,"is_oa":true,"landing_page_url":"http://hdl.handle.net/1956/23602","pdf_url":null,"source":{"id":"https://openalex.org/S7407064446","display_name":"NORA - Norwegian Open Research Archives","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Medical Genetics","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:da7eb6f3039643e8aba2eae9dcc0b38e","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/da7eb6f3039643e8aba2eae9dcc0b38e","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"BMC Medical Genetics, Vol 19, Iss 1, Pp 1-9 (2018)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.1186/s12881-018-0559-z","doi":"https://doi.org/10.1186/s12881-018-0559-z","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s12881-018-0559-z","pdf_url":"https://bmcmedgenet.biomedcentral.com/counter/pdf/10.1186/s12881-018-0559-z","source":{"id":"https://openalex.org/S143585532","display_name":"BMC Medical Genetics","issn_l":"1471-2350","issn":["1471-2350"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["anvur-scientific","cwts-core","doaj","jufo-1","ki-jl-1","oarl","poland-70","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"BMC Medical Genetics","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.8048999905586243,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[{"id":"https://openalex.org/G1170835643","display_name":null,"funder_award_id":"Project 249843","funder_id":"https://openalex.org/F4320323299","funder_display_name":"Norges Forskningsr\u00e5d"},{"id":"https://openalex.org/G5201527707","display_name":null,"funder_award_id":"912176","funder_id":"https://openalex.org/F4320310758","funder_display_name":"Kreftforeningen"},{"id":"https://openalex.org/G7198429319","display_name":null,"funder_award_id":"249843","funder_id":"https://openalex.org/F4320310758","funder_display_name":"Kreftforeningen"},{"id":"https://openalex.org/G728116563","display_name":null,"funder_award_id":"249843","funder_id":"https://openalex.org/F4320323299","funder_display_name":"Norges Forskningsr\u00e5d"},{"id":"https://openalex.org/G8072577569","display_name":null,"funder_award_id":"912176","funder_id":"https://openalex.org/F4320323299","funder_display_name":"Norges Forskningsr\u00e5d"},{"id":"https://openalex.org/G829733706","display_name":null,"funder_award_id":"912176","funder_id":"https://openalex.org/F4320334965","funder_display_name":"Helse Vest Regionalt Helsef\u00f8retak"}],"funders":[{"id":"https://openalex.org/F4320310758","display_name":"Kreftforeningen","ror":"https://ror.org/01925vb10"},{"id":"https://openalex.org/F4320323299","display_name":"Norges Forskningsr\u00e5d","ror":"https://ror.org/00epmv149"},{"id":"https://openalex.org/F4320323898","display_name":"Bergens Forskningsstiftelse","ror":"https://ror.org/04efaep75"},{"id":"https://openalex.org/F4320334965","display_name":"Helse Vest Regionalt Helsef\u00f8retak","ror":"https://ror.org/05ykb3m36"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2804337574.pdf","grobid_xml":"https://content.openalex.org/works/W2804337574.grobid-xml"},"referenced_works_count":50,"referenced_works":["https://openalex.org/W105392238","https://openalex.org/W158285355","https://openalex.org/W1967363545","https://openalex.org/W1968972540","https://openalex.org/W1971456181","https://openalex.org/W1977955230","https://openalex.org/W1999704088","https://openalex.org/W2004500138","https://openalex.org/W2006117889","https://openalex.org/W2006897037","https://openalex.org/W2008206202","https://openalex.org/W2014945217","https://openalex.org/W2022722561","https://openalex.org/W2029132704","https://openalex.org/W2031029779","https://openalex.org/W2037403843","https://openalex.org/W2069663555","https://openalex.org/W2083195949","https://openalex.org/W2090523041","https://openalex.org/W2092171209","https://openalex.org/W2093689899","https://openalex.org/W2097986534","https://openalex.org/W2103997823","https://openalex.org/W2109027544","https://openalex.org/W2115943691","https://openalex.org/W2118520292","https://openalex.org/W2130091680","https://openalex.org/W2134949162","https://openalex.org/W2137015675","https://openalex.org/W2142757818","https://openalex.org/W2159952364","https://openalex.org/W2167810407","https://openalex.org/W2168623385","https://openalex.org/W2168974130","https://openalex.org/W2170236894","https://openalex.org/W2238868503","https://openalex.org/W2259202917","https://openalex.org/W2307361308","https://openalex.org/W2338607927","https://openalex.org/W2376573086","https://openalex.org/W2425379846","https://openalex.org/W2590049859","https://openalex.org/W2604603855","https://openalex.org/W2756784367","https://openalex.org/W2762317928","https://openalex.org/W2889493335","https://openalex.org/W2921660925","https://openalex.org/W2939469857","https://openalex.org/W2944954872","https://openalex.org/W2948315795"],"related_works":["https://openalex.org/W3045442093","https://openalex.org/W2014945217","https://openalex.org/W4417279803","https://openalex.org/W3170750324","https://openalex.org/W4414801755","https://openalex.org/W4382458884","https://openalex.org/W2883510079","https://openalex.org/W2259202917","https://openalex.org/W2797831397","https://openalex.org/W4367692461"],"abstract_inverted_index":{"BACKGROUND:":[0],"The":[1],"NAA10-NAA15":[2],"(NatA)":[3],"protein":[4],"complex":[5,160],"is":[6,185],"an":[7,29,91],"N-terminal":[8],"acetyltransferase":[9],"responsible":[10],"for":[11,157],"acetylating":[12],"~":[13],"40%":[14],"of":[15,52,126,152,189,196,208],"eukaryotic":[16],"proteins.":[17],"In":[18],"recent":[19],"years,":[20],"NAA10":[21,73,191],"variants":[22],"have":[23],"been":[24],"found":[25],"in":[26,36,42,90,143,159,193],"patients":[27],"with":[28,49,96,161],"X-linked":[30],"developmental":[31],"disorder":[32],"called":[33],"Ogden":[34],"syndrome":[35],"its":[37],"most":[38],"severe":[39],"form":[40],"and,":[41],"other":[43],"familial":[44],"or":[45],"de":[46,71],"novo":[47,72],"cases,":[48],"variable":[50],"degrees":[51],"syndromic":[53,201],"intellectual":[54,99],"disability":[55],"(ID)":[56],"affecting":[57],"both":[58],"sexes.":[59],"CASE":[60],"PRESENTATION:":[61],"Here":[62],"we":[63],"report":[64],"and":[65,70,105,142,175],"functionally":[66],"characterize":[67],"a":[68,136,148,172,194,206],"novel":[69],"(NM_003491.3)":[74],"c.332":[75],"T":[76],">":[77],"G":[78],"p.(V111G)":[79],"missense":[80],"variant,":[81],"that":[82,133,169,199],"was":[83,119],"detected":[84],"by":[85,128],"trio-based":[86],"whole":[87],"exome":[88],"sequencing":[89],"11":[92],"year":[93],"old":[94],"girl":[95],"mild/moderate":[97],"non-syndromic":[98],"disability.":[100],"She":[101],"had":[102],"delayed":[103],"motor":[104],"language":[106],"development,":[107],"but":[108,155],"normal":[109,121],"behavior":[110],"without":[111],"autistic":[112],"traits.":[113],"Her":[114],"blood":[115],"leukocyte":[116],"X-inactivation":[117],"pattern":[118],"within":[120],"range":[122],"(80/20).":[123],"Functional":[124],"characterization":[125],"NAA10-V111G":[127,134,154,158,170],"cycloheximide":[129],"chase":[130],"experiments":[131],"suggests":[132],"has":[135,171],"reduced":[137,149,173],"stability":[138,174],"compared":[139],"to":[140],"NAA10-WT,":[141],"vitro":[144],"acetylation":[145],"assays":[146],"revealed":[147],"enzymatic":[150,164],"activity":[151],"monomeric":[153,176],"not":[156],"NAA15":[162],"(NatA":[163],"activity).":[165],"CONCLUSIONS:":[166],"We":[167],"show":[168],"catalytic":[177],"activity,":[178],"while":[179],"NatA":[180,210],"function":[181],"remains":[182],"unaltered.":[183],"This":[184],"the":[186,200],"first":[187],"example":[188],"isolated":[190],"dysfunction":[192],"case":[195],"ID,":[197],"suggesting":[198],"cases":[202],"may":[203],"also":[204],"require":[205],"degree":[207],"compromised":[209],"function.":[211]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":6},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":7},{"year":2018,"cited_by_count":4}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2018-06-01T00:00:00"}