{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T22:07:45Z","timestamp":1789596465493,"version":"build-2803163510"},"update-to":[{"DOI":"10.1371\/journal.pgen.1007386","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2018,5,29]],"date-time":"2018-05-29T00:00:00Z","timestamp":1527552000000}}],"reference-count":46,"publisher":"Public Library of Science (PLoS)","issue":"5","license":[{"start":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T00:00:00Z","timestamp":1526428800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1007386","type":"journal-article","created":{"date-parts":[[2018,5,16]],"date-time":"2018-05-16T14:00:32Z","timestamp":1526479232000},"page":"e1007386","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":29,"title":["A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies"],"prefix":"10.1371","volume":"14","author":[{"given":"Sara","family":"Gon\u00e7alves","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6449-2724","authenticated-orcid":true,"given":"Julie","family":"Patat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Clara","family":"Guida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noelle","family":"Lachauss\u00e9e","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christelle","family":"Arrondel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"Helmst\u00e4dter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3957-1359","authenticated-orcid":true,"given":"Olivia","family":"Boyer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0238-8224","authenticated-orcid":true,"given":"Olivier","family":"Gribouval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Claire","family":"Gubler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geraldine","family":"Mollet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marl\u00e8ne","family":"Rio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Charbit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tobias B.","family":"Huber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia G.","family":"Wheeler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Devon","family":"Haynes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jane","family":"Juusola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thierry","family":"Billette de Villemeur","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Nava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandra","family":"Afenjar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Boris","family":"Keren","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9087-1210","authenticated-orcid":true,"given":"Rolf","family":"Bodmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9934-4940","authenticated-orcid":true,"given":"Corinne","family":"Antignac","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3959-6350","authenticated-orcid":true,"given":"Matias","family":"Simons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2018,5,16]]},"reference":[{"issue":"1","key":"ref1","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation","volume":"376","author":"JE Posey","year":"2017","journal-title":"The New England journal of medicine"},{"issue":"21","key":"ref2","doi-asserted-by":"crossref","first-page":"1992","DOI":"10.1056\/NEJMoa1215993","article-title":"Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination","volume":"368","author":"DH Margolin","year":"2013","journal-title":"The New England journal of medicine"},{"issue":"5165","key":"ref3","doi-asserted-by":"crossref","first-page":"1604","DOI":"10.1126\/science.8202715","article-title":"Digenic retinitis pigmentosa due to mutations at the unlinked peripherin\/RDS and ROM1 loci","volume":"264","author":"K Kajiwara","year":"1994","journal-title":"Science"},{"issue":"12","key":"ref4","doi-asserted-by":"crossref","first-page":"1370","DOI":"10.1038\/ng.2454","article-title":"Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2","volume":"44","author":"RJ Lemmers","year":"2012","journal-title":"Nat Genet"},{"issue":"1","key":"ref5","doi-asserted-by":"crossref","first-page":"R65","DOI":"10.1093\/hmg\/ddh092","article-title":"The oligogenic properties of Bardet-Biedl syndrome","volume":"13","author":"N Katsanis","year":"2004","journal-title":"Hum Mol Genet"},{"issue":"10","key":"ref6","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1136\/jmedgenet-2013-101713","article-title":"Digenic inheritance in medical genetics","volume":"50","author":"AA Schaffer","year":"2013","journal-title":"Journal of medical genetics"},{"issue":"6","key":"ref7","doi-asserted-by":"crossref","first-page":"805","DOI":"10.1002\/ana.23971","article-title":"Mutations in gamma adducin are associated with inherited cerebral palsy","volume":"74","author":"MC Kruer","year":"2013","journal-title":"Ann Neurol"},{"issue":"9722","key":"ref8","doi-asserted-by":"crossref","first-page":"1287","DOI":"10.1016\/S0140-6736(10)60236-X","article-title":"Genetic kidney diseases","volume":"375","author":"F Hildebrandt","year":"2010","journal-title":"Lancet"},{"issue":"6","key":"ref9","doi-asserted-by":"crossref","first-page":"884","DOI":"10.1007\/PL00000731","article-title":"Adducin: structure, function and regulation","volume":"57","author":"Y Matsuoka","year":"2000","journal-title":"Cellular and molecular life sciences: CMLS"},{"issue":"30","key":"ref10","doi-asserted-by":"crossref","first-page":"19329","DOI":"10.1074\/jbc.273.30.19329","article-title":"Adducin preferentially recruits spectrin to the fast growing ends of actin filaments in a complex requiring the MARCKS-related domain and a newly defined oligomerization domain","volume":"273","author":"X Li","year":"1998","journal-title":"J Biol Chem"},{"issue":"1","key":"ref11","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S1097-2765(00)80005-2","article-title":"Differential roles of p300 and PCAF acetyltransferases in muscle differentiation","volume":"1","author":"PL Puri","year":"1997","journal-title":"Mol Cell"},{"issue":"4","key":"ref12","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1093\/emboj\/19.4.662","article-title":"Regulation of E2F1 activity by acetylation","volume":"19","author":"MA Martinez-Balbas","year":"2000","journal-title":"The EMBO journal"},{"issue":"2","key":"ref13","doi-asserted-by":"crossref","first-page":"1202","DOI":"10.1128\/MCB.19.2.1202","article-title":"p53 sites acetylated in vitro by PCAF and p300 are acetylated in vivo in response to DNA damage","volume":"19","author":"L Liu","year":"1999","journal-title":"Molecular and cellular biology"},{"issue":"10","key":"ref14","doi-asserted-by":"crossref","first-page":"5659","DOI":"10.1128\/MCB.18.10.5659","article-title":"Mammalian GCN5 and P\/CAF acetyltransferases have homologous amino-terminal domains important for recognition of nucleosomal substrates","volume":"18","author":"W Xu","year":"1998","journal-title":"Molecular and cellular biology"},{"issue":"1","key":"ref15","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1002\/dvdy.22515","article-title":"Hts, the Drosophila homologue of Adducin, physically interacts with the transmembrane receptor Golden goal to guide photoreceptor axons","volume":"240","author":"S Ohler","year":"2011","journal-title":"Developmental dynamics: an official publication of the American Association of Anatomists"},{"issue":"18","key":"ref16","doi-asserted-by":"crossref","first-page":"8228","DOI":"10.1128\/MCB.25.18.8228-8238.2005","article-title":"The histone H3 acetylase dGcn5 is a key player in Drosophila melanogaster metamorphosis","volume":"25","author":"C Carre","year":"2005","journal-title":"Molecular and cellular biology"},{"issue":"11","key":"ref17","doi-asserted-by":"crossref","first-page":"618","DOI":"10.1016\/j.tem.2015.09.009","article-title":"Gaining Insights into Diabetic Cardiomyopathy from Drosophila","volume":"26","author":"SB Diop","year":"2015","journal-title":"Trends in endocrinology and metabolism: TEM"},{"key":"ref18","author":"R Bodmer","year":"2010"},{"issue":"7227","key":"ref19","doi-asserted-by":"crossref","first-page":"322","DOI":"10.1038\/nature07526","article-title":"The insect nephrocyte is a podocyte-like cell with a filtration slit diaphragm","volume":"457","author":"H Weavers","year":"2009","journal-title":"Nature"},{"issue":"14","key":"ref20","doi-asserted-by":"crossref","first-page":"2335","DOI":"10.1242\/dev.031609","article-title":"Sns and Kirre, the Drosophila orthologs of Nephrin and Neph1, direct adhesion, fusion and formation of a slit diaphragm-like structure in insect nephrocytes","volume":"136","author":"S Zhuang","year":"2009","journal-title":"Development"},{"issue":"1","key":"ref21","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1007\/s00441-017-2606-z","article-title":"Using Drosophila nephrocytes in genetic kidney disease","volume":"369","author":"M Helmstadter","year":"2017","journal-title":"Cell Tissue Res"},{"issue":"3","key":"ref22","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1172\/JCI89626","article-title":"Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency","volume":"127","author":"S Lovric","year":"2017","journal-title":"J Clin Invest"},{"issue":"5","key":"ref23","doi-asserted-by":"crossref","first-page":"1521","DOI":"10.1681\/ASN.2016050517","article-title":"Modeling Monogenic Human Nephrotic Syndrome in the Drosophila Garland Cell Nephrocyte","volume":"28","author":"T Hermle","year":"2017","journal-title":"J Am Soc Nephrol"},{"issue":"7","key":"ref24","doi-asserted-by":"crossref","first-page":"e40300","DOI":"10.1371\/journal.pone.0040300","article-title":"Functional study of mammalian Neph proteins in Drosophila melanogaster","volume":"7","author":"M Helmstadter","year":"2012","journal-title":"PLoS One"},{"issue":"9","key":"ref25","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.86177","article-title":"A flexible, multilayered protein scaffold maintains the slit in between glomerular podocytes","volume":"1","author":"F Grahammer","year":"2016","journal-title":"JCI Insight"},{"issue":"8","key":"ref26","doi-asserted-by":"crossref","first-page":"e0134620","DOI":"10.1371\/journal.pone.0134620","article-title":"Klf15 Is Critical for the Development and Differentiation of Drosophila Nephrocytes","volume":"10","author":"JR Ivy","year":"2015","journal-title":"PLoS One"},{"issue":"4","key":"ref27","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1016\/j.celrep.2015.06.056","article-title":"Diet-Induced Podocyte Dysfunction in Drosophila and Mammals","volume":"12","author":"J Na","year":"2015","journal-title":"Cell reports"},{"issue":"4","key":"ref28","doi-asserted-by":"crossref","first-page":"1117","DOI":"10.1681\/ASN.2016050546","article-title":"APOL1-Mediated Cell Injury Involves Disruption of Conserved Trafficking Processes","volume":"28","author":"E Kruzel-Davila","year":"2017","journal-title":"J Am Soc Nephrol"},{"key":"ref29","doi-asserted-by":"crossref","first-page":"10822","DOI":"10.1038\/ncomms10822","article-title":"FAT1 mutations cause a glomerulotubular nephropathy","volume":"7","author":"HY Gee","year":"2016","journal-title":"Nature communications"},{"issue":"6","key":"ref30","doi-asserted-by":"crossref","first-page":"2375","DOI":"10.1172\/JCI79504","article-title":"KANK deficiency leads to podocyte dysfunction and nephrotic syndrome","volume":"125","author":"HY Gee","year":"2015","journal-title":"J Clin Invest"},{"issue":"2","key":"ref31","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/79973","article-title":"Loss of Gcn5l2 leads to increased apoptosis and mesodermal defects during mouse development","volume":"26","author":"W Xu","year":"2000","journal-title":"Nat Genet"},{"issue":"3","key":"ref32","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1172\/JCI82592","article-title":"A role for genetic susceptibility in sporadic focal segmental glomerulosclerosis","volume":"126","author":"H Yu","year":"2016","journal-title":"J Clin Invest"},{"issue":"6","key":"ref33","doi-asserted-by":"crossref","first-page":"1052","DOI":"10.1038\/ki.2012.487","article-title":"Molecular fingerprinting of the podocyte reveals novel gene and protein regulatory networks","volume":"83","author":"M Boerries","year":"2013","journal-title":"Kidney international"},{"key":"ref34","doi-asserted-by":"crossref","first-page":"3527","DOI":"10.1038\/ncomms4527","article-title":"PCAF-dependent epigenetic changes promote axonal regeneration in the central nervous system","volume":"5","author":"R Puttagunta","year":"2014","journal-title":"Nat Commun"},{"issue":"4","key":"ref35","doi-asserted-by":"crossref","first-page":"1109","DOI":"10.3892\/ijmm.2015.2099","article-title":"Selective PCAF inhibitor ameliorates cognitive and behavioral deficits by suppressing NF-kappaB-mediated neuroinflammation induced by Abeta in a model of Alzheimer's disease","volume":"35","author":"SY Park","year":"2015","journal-title":"Int J Mol Med"},{"issue":"5","key":"ref36","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1016\/j.celrep.2016.03.079","article-title":"KAT2B Is Required for Pancreatic Beta Cell Adaptation to Metabolic Stress by Controlling the Unfolded Protein Response","volume":"15","author":"N Rabhi","year":"2016","journal-title":"Cell Rep"},{"issue":"8","key":"ref37","doi-asserted-by":"crossref","first-page":"1902","DOI":"10.1161\/ATVBAHA.113.301579","article-title":"Lysine acetyltransferase PCAF is a key regulator of arteriogenesis","volume":"33","author":"AJ Bastiaansen","year":"2013","journal-title":"Arterioscler Thromb Vasc Biol"},{"issue":"16","key":"ref38","doi-asserted-by":"crossref","first-page":"26269","DOI":"10.18632\/oncotarget.15447","article-title":"Opposite effects of GCN5 and PCAF knockdowns on the alternative mechanism of telomere maintenance","volume":"8","author":"M Jeitany","year":"2017","journal-title":"Oncotarget"},{"key":"ref39","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1016\/j.yjmcc.2017.11.013","article-title":"Acetylation of TBX5 by KAT2B and KAT2A regulates heart and limb development","volume":"114","author":"TK Ghosh","year":"2018","journal-title":"J Mol Cell Cardiol"},{"key":"ref40","doi-asserted-by":"crossref","first-page":"13227","DOI":"10.1038\/ncomms13227","article-title":"KAT2A\/KAT2B-targeted acetylome reveals a role for PLK4 acetylation in preventing centrosome amplification","volume":"7","author":"M Fournier","year":"2016","journal-title":"Nature communications"},{"issue":"11","key":"ref41","doi-asserted-by":"crossref","first-page":"e0143199","DOI":"10.1371\/journal.pone.0143199","article-title":"Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies","volume":"10","author":"MA Field","year":"2015","journal-title":"PLoS One"},{"issue":"24","key":"ref42","doi-asserted-by":"crossref","first-page":"4711","DOI":"10.1093\/hmg\/ddp434","article-title":"Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1\/PATJ and Par6","volume":"18","author":"M Delous","year":"2009","journal-title":"Hum Mol Genet"},{"key":"ref43","article-title":"Preparation of nuclear and cytoplasmic extracts from mammalian cells","author":"SM Abmayr","year":"2006","journal-title":"Curr Protoc Mol Biol"},{"issue":"10","key":"ref44","doi-asserted-by":"crossref","first-page":"928","DOI":"10.1002\/humu.22844","article-title":"GeneMatcher: a matching tool for connecting investigators with an interest in the same gene","volume":"36","author":"N Sobreira","year":"2015","journal-title":"Hum Mutat"},{"issue":"3\u20134","key":"ref45","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0531-5565(78)90012-8","article-title":"On the relationship between senescence and age-related changes in two wild-type strains of Drosophila melanogaster","volume":"13","author":"B Ganetzky","year":"1978","journal-title":"Exp Gerontol"},{"issue":"31","key":"ref46","doi-asserted-by":"crossref","DOI":"10.3791\/1435","article-title":"Semi-automated Optical Heartbeat Analysis of small hearts","author":"K Ocorr","year":"2009","journal-title":"J Vis Exp"}],"updated-by":[{"DOI":"10.1371\/journal.pgen.1007748","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2018,10,26]],"date-time":"2018-10-26T00:00:00Z","timestamp":1540512000000}},{"DOI":"10.1371\/journal.pgen.1007386","type":"new_version","label":"New version","source":"publisher","updated":{"date-parts":[[2018,5,29]],"date-time":"2018-05-29T00:00:00Z","timestamp":1527552000000}}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1007386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2019,10,17]],"date-time":"2019-10-17T23:54:02Z","timestamp":1571356442000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1007386"}},"subtitle":[],"editor":[{"given":"Hugo J.","family":"Bellen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2018,5,16]]},"references-count":46,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2018,5,16]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1007386","relation":{"new_version":[{"id-type":"doi","id":"10.1371\/journal.pgen.1007386","asserted-by":"object"}],"correction":[{"id-type":"doi","id":"10.1371\/journal.pgen.1007748","asserted-by":"object"}]},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,5,16]]}}}