{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T15:14:12Z","timestamp":1786115652287,"version":"build-2736575974"},"reference-count":484,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2026,7,31]],"date-time":"2026-07-31T00:00:00Z","timestamp":1785456000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000925","name":"National Health and Medical Research Council (NHMRC) of Australia","doi-asserted-by":"publisher","award":["2002741"],"award-info":[{"award-number":["2002741"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"award":["2002741"],"award-info":[{"award-number":["2002741"]}],"id":[{"id":"https:\/\/ror.org\/011kf5r70","id-type":"ROR","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000925","name":"Senior Research\/Investigator Fellowship","doi-asserted-by":"publisher","award":["2009504"],"award-info":[{"award-number":["2009504"]}],"id":[{"id":"10.13039\/501100000925","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100025520","name":"Medical Research Future Fund","doi-asserted-by":"crossref","award":["MRF2025085"],"award-info":[{"award-number":["MRF2025085"]}],"id":[{"id":"10.13039\/501100025520","id-type":"DOI","asserted-by":"crossref"}]},{"award":["MRF2025085"],"award-info":[{"award-number":["MRF2025085"]}],"id":[{"id":"https:\/\/ror.org\/0513v5k17","id-type":"ROR","asserted-by":"publisher"}]},{"name":"Australian Government Research Training Program Scholarship"},{"id":[{"id":"https:\/\/ror.org\/0314h5y94","id-type":"ROR","asserted-by":"publisher"}]},{"name":"RNA Innovation PhD Scholarship"},{"id":[{"id":"https:\/\/ror.org\/019wvm592","id-type":"ROR","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Biomolecules"],"abstract":"<jats:p>The nucleolus has emerged as a dynamic and multifunctional subnuclear organelle that integrates ribosome biogenesis with cellular growth and stress signalling. Dysregulation of nucleolar function is increasingly recognised as a central driver of human disease, linking altered ribosome production and nucleolar surveillance pathways to cancer, ribosomopathies, premature ageing syndromes, neurodegeneration, and immune disorders. In this review, we integrate structural, molecular, and disease-level perspectives on nucleolar biology to define how ribosome biogenesis and nucleolar surveillance regulate cellular state across physiological and pathological contexts, positioning the nucleolus as an active regulator of cell function. We outline areas of convergence, identify key unresolved questions, and highlight therapeutic vulnerabilities that arise, including opportunities for small-molecule inhibitors and gene-based approaches.<\/jats:p>","DOI":"10.3390\/biom16081121","type":"journal-article","created":{"date-parts":[[2026,8,3]],"date-time":"2026-08-03T01:43:27Z","timestamp":1785721407000},"page":"1121","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0009-7219-9577","authenticated-orcid":false,"given":"Olivia","family":"Delfino","sequence":"first","affiliation":[{"name":"Genome Sciences and Cancer Division, The John Curtin School of Medical Research, The Australian National University, Australian Capital Territory, Canberra, ACT 2601, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiachen","family":"Xuan","sequence":"additional","affiliation":[{"name":"Genome Sciences and Cancer Division, The John Curtin School of Medical Research, The Australian National University, Australian Capital Territory, Canberra, ACT 2601, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadine","family":"Hein","sequence":"additional","affiliation":[{"name":"Genome Sciences and Cancer Division, The John Curtin School of Medical Research, The Australian National University, Australian Capital Territory, Canberra, ACT 2601, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7440-2246","authenticated-orcid":false,"given":"Rita","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Genome Sciences and Cancer Division, The John Curtin School of Medical Research, The Australian National University, Australian Capital Territory, Canberra, ACT 2601, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2166-4493","authenticated-orcid":false,"given":"Ross D.","family":"Hannan","sequence":"additional","affiliation":[{"name":"Genome Sciences and Cancer Division, The John Curtin School of Medical Research, The Australian National University, Australian Capital Territory, Canberra, ACT 2601, Australia"},{"name":"Menzies Institute for Medical Research, University of Tasmania, Hobart, TAS 7000, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0265-4476","authenticated-orcid":false,"given":"Amee J.","family":"George","sequence":"additional","affiliation":[{"name":"Genome Sciences and Cancer Division, The John Curtin School of Medical Research, The Australian National University, Australian Capital Territory, Canberra, ACT 2601, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,7,31]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"3977","DOI":"10.1111\/febs.14108","article-title":"Integrating the genomic architecture of human nucleolar organizer regions with the biophysical properties of nucleoli","volume":"284","author":"Mangan","year":"2017","journal-title":"FEBS J."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1598","DOI":"10.1101\/gad.283838.116","article-title":"Nucleolar organizer regions: Genomic \u2018dark matter\u2019 requiring illumination","volume":"30","author":"McStay","year":"2016","journal-title":"Genes Dev."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1038\/s41580-020-0272-6","article-title":"The nucleolus as a multiphase liquid condensate","volume":"22","author":"Lafontaine","year":"2021","journal-title":"Nat. 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