{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,17]],"date-time":"2026-10-17T16:36:31Z","timestamp":1792254991484,"version":"4.4.0"},"reference-count":92,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"6694","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Science"],"published-print":{"date-parts":[[2024,4,26]]},"abstract":"<jats:p>\n                    Tubulin, one of the most abundant cytoskeletal building blocks, has numerous isotypes in metazoans encoded by different conserved genes. Whether these distinct isotypes form cell type\u2013 and context-specific microtubule structures is poorly understood. Based on a cohort of 12 patients with primary ciliary dyskinesia as well as mouse mutants, we identified and characterized variants in the\n                    <jats:italic>TUBB4B<\/jats:italic>\n                    isotype that specifically perturbed centriole and cilium biogenesis. Distinct\n                    <jats:italic>TUBB4B<\/jats:italic>\n                    variants differentially affected microtubule dynamics and cilia formation in a dominant-negative manner. Structure-function studies revealed that different TUBB4B variants disrupted distinct tubulin interfaces, thereby enabling stratification of patients into three classes of ciliopathic diseases. These findings show that specific tubulin isotypes have distinct and nonredundant subcellular functions and establish a link between tubulinopathies and ciliopathies.\n                  <\/jats:p>","DOI":"10.1126\/science.adf5489","type":"journal-article","created":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T14:00:04Z","timestamp":1714053604000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":55,"title":["Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules"],"prefix":"10.1126","volume":"384","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3636-6501","authenticated-orcid":true,"given":"Daniel O.","family":"Dodd","sequence":"first","affiliation":[{"name":"MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3801-2416","authenticated-orcid":true,"given":"Sabrina","family":"Mechaussier","sequence":"additional","affiliation":[{"name":"Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases,\u202fInstitut Imagine, Universit\u00e9 de Paris, Paris 75015, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5094-5182","authenticated-orcid":true,"given":"Patricia L.","family":"Yeyati","sequence":"additional","affiliation":[{"name":"MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3861-1870","authenticated-orcid":true,"given":"Fraser","family":"McPhie","sequence":"additional","affiliation":[{"name":"MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, 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