{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Ni C"],"funding":["Deutsche Stiftung Friedensforschung (German Foundation for Peace Research)","Chinese Academy of Sciences (CAS)","U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences","NICHD NIH HHS","U.S. Department of Health & Human Services | NIH | National Institute of General Medical Sciences (NIGMS)","NIA NIH HHS","Cancer Prevention and Research Institute of Texas","U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development","U.S. Department of Health & Human Services | NIH | National Cancer Institute","RCUK | Biotechnology and Biological Sciences Research Council","NINDS NIH HHS","Welch Foundation","Biotechnology and Biological Sciences Research Council","U.S. Department of Health & Human Services | NIH | National Cancer Institute (NCI)","Chinese Academy of Sciences","Cancer Prevention and Research Institute of Texas (Cancer Prevention Research Institute of Texas)","U.S. Department of Health & Human Services | NIH | National Institute on Aging","U.S. Department of Health & Human Services | NIH | Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)","U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS)","U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke","Deutsche Stiftung Friedensforschung","U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging)","Wellcome Trust","NIGMS NIH HHS","Penn | Perelman School of Medicine at the University of Pennsylvania | Abramson Family Cancer Research Institute"],"pagination":["1240-1255"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12339376"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["27(8)"],"pubmed_abstract":["Many neurodevelopmental defects are linked to genes involved in housekeeping functions, such as those encoding ribosome biogenesis factors. How reductions in ribosome biogenesis can result in tissue- and developmental-specific defects remains unclear. Here we describe variants in the ribosome biogenesis factor AIRIM/C1orf109 that are primarily associated with neurodevelopmental disorders. Using human cerebral organoids in combination with proteomic, single-cell RNA sequencing and single-organoid translation analyses, we identify a previously unappreciated drop in protein production during early brain development. We find that ribosome levels decrease during neuroepithelial differentiation, making differentiating cells particularly vulnerable to perturbations in ribosome biogenesis during t"],"journal":["Nature cell biology"],"pubmed_title":["A programmed decline in ribosome levels governs human early neurodevelopment."],"pmcid":["PMC12339376"],"funding_grant_id":["I-2088","R01AG067604","R01 GM101149","222531/Z/21/Z","GM101149","NS125906","BB/Z51522X/1","R01 HD103627","R35GM144043","RR180042","CA174905","R01AG079513","R01 AG079513","R35 GM144043","R01 GM138565","F-2027-20230405","HD103627","F31 NS125906","R01 AG067604","GM138565","XDB0820000","DFG VO 2138/7-1"],"pubmed_authors":["Wu J","Buszczak M","Xing C","Badv RS","Jeong WC","Eghbal F","Maroofian R","Ramzan K","Ballard E","Metanat Z","Eslamiyeh H","Ni C","Zeqiraj E","Alluqmani MM","Greenberg RA","Dehghani M","Houlden H","Karimiani EG","Marinakis NM","Cenik C","Li L","Mehrjardi MYV","Schwaibold EMC","Khouj E","Sakurai M","Park D","Yu L","Umair M","Sofocleous C","Lee H","Vorgia P","Schmitz DA","Wei Y","Qin S","Liu Y","Ding Y","Ekmekci C","Alhajj SMN","Bilal M","Imannezhad S","Zhao J","Alves CAPF","Chedrawi A","Kim HG","Hashmi JA","Kim S","Sieber M","Alkuraya FS","Kruer M","Basit S","Veltra D","Foglizzo M","Niotakis G","Kumar A","Vona B"],"additional_accession":[]},"is_claimable":false,"name":"A programmed decline in ribosome levels governs human early neurodevelopment.","description":"Many neurodevelopmental defects are linked to genes involved in housekeeping functions, such as those encoding ribosome biogenesis factors. How reductions in ribosome biogenesis can result in tissue- and developmental-specific defects remains unclear. Here we describe variants in the ribosome biogenesis factor AIRIM/C1orf109 that are primarily associated with neurodevelopmental disorders. Using human cerebral organoids in combination with proteomic, single-cell RNA sequencing and single-organoid translation analyses, we identify a previously unappreciated drop in protein production during early brain development. We find that ribosome levels decrease during neuroepithelial differentiation, making differentiating cells particularly vulnerable to perturbations in ribosome biogenesis during t","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Aug","modification":"2026-07-15T08:58:20.96Z","creation":"2026-07-03T03:10:30.74Z"},"accession":"S-EPMC12339376","cross_references":{"pubmed":["40760247"],"doi":["10.1038/s41556-025-01708-8"]}}