ArticleScience (New York, N.Y.)2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Science (New York, N.Y.), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 39 papers.
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39citing papers in PubMed
22.6field-weighted citation impact, top 1% of its field
What it found
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Who cites it
39 citing papers in PubMed, 41 citations in OpenAlex.
- Towards a systems-level view of the microtubule cytoskeleton and its functions in physiology and disease.Nature reviews. Molecular cell biology · 2026Review
- Discovery of novel alleles in Kartagener's syndrome.Mammalian genome : official journal of the International Mammalian Genome Society · 2026Article
- Insulin-mediated ciliary remodeling in the choroid plexus epithelium.Cellular and molecular life sciences : CMLS · 2026Article
- Primary cilia: sensors of biliary homeostasis and disease.Nature reviews. Gastroenterology & hepatology · 2026Review
- Missense variants in TUBA4A cause myo-tubulinopathies.Brain : a journal of neurology · 2026Article
- Variants in CEP135 Cause Congenital Microcephaly and Primary Ciliary Dyskinesia.Pediatric pulmonology · 2026Article
- Gain-of-function suppressors restore microtubule dynamics and rescue dominant-negative tubulinopathies.Nature cell biology · 2026Article
- Single-cell transcriptomics and functional validation reveal a TUBB4B-associated malignant epithelial state in nasopharyngeal carcinoma.Journal of translational medicine · 2026Article
- A Cell Type-Specific Role for Tubb6 in Ciliogenesis of Xenopus Epidermal Multiciliated Cells.Cytoskeleton (Hoboken, N.J.) · 2026Article
- Screening the composition of tubulin isotypes reveals the most abundant TUBB4B for ciliary polarity in ependymal cells.Journal of molecular cell biology · 2026Article
- Utilising human cellular models of primary ciliary dyskinesia: a scoping review.European respiratory review : an official journal of the European Respiratory Society · 2026Article
- Preclinical human models of primary ciliary dyskinesia.European respiratory review : an official journal of the European Respiratory Society · 2026Review
- In situ proteomics unveils specialized domains for extrasynaptic signaling on neuronal cilia.Science advances · 2026Article
- Bridging the gap: an emerging link between tubulinopathies and ciliopathies.NPJ genomic medicine · 2026Review
- The Genetics of Primary Ciliary Dyskinesia - Advances and Limitations.Pediatric pulmonology · 2026Review
- Leveraging Tubulin Isotype Structural Differences to Design Less Hematotoxic β5 Selective Covalent Inhibitors for NSCLC.Current topics in medicinal chemistry · 2026Article
- CFAP251 Deficiency Induces Male Infertility and PCD-like Ciliary Defects by Disrupting TUBB4B and SLC25A4 Recruitment in Humans and Mice.International journal of biological sciences · 2026Article
- The kinesin-4 protein KIF27 forms a cytoskeletal scaffold at the transition zone to promote motile cilia structural integrity.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.Nature communications · 2025Article
- Primary ciliary dyskinesia phenotypes and correlation with genotype.Current opinion in pulmonary medicine · 2025Review
Corrections and comments
- Erratum issued
Authors and funding
84 authors at 20 institutions in 9 countries.
Daniel O Dodd *MRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0002-3636-6501
Sabrina Mechaussier *Laboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.ORCID 0000-0002-3801-2416
Patricia L YeyatiMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0001-5094-5182
Fraser McPhieMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0003-3861-1870
Jacob R AndersonDepartment of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA.ORCID 0000-0002-1179-717X
Chen Jing KhooSchool of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China.ORCID 0009-0009-8352-1058
Amelia ShoemarkRespiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.ORCID 0000-0001-7360-6060
Deepesh K GuptaDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.ORCID 0000-0001-9543-612X
Thomas AttardWellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK.
Maimoona A ZariwalaDepartment of Pathology and Laboratory Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA.ORCID 0000-0003-1619-1393
Marie LegendreMolecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.ORCID 0000-0003-2178-0846
Diana BrachtDepartment of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany.ORCID 0000-0002-2151-038X
Julia WallmeierDepartment of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany.ORCID 0000-0002-3958-9065
Miao GuiDepartment of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA.
Mahmoud R FassadGenetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.ORCID 0000-0003-2568-8326
David A ParryMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.
Peter A TennantMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0002-1233-8602
Alison MeynertMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0001-5839-1751
Gabrielle WhewayFaculty of Medicine, University of Southampton, Southampton SO16 6YD, UK.ORCID 0000-0002-0494-0783
Lucas Fares-TaieLaboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.ORCID 0000-0002-4613-0711
Holly A BlackCentre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0003-3250-2665
Rana Mitri-FrangiehDepartment of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.
Catherine FauconDepartment of Anatomy, Cytology and Pathology, Hôpital Intercommuncal de Créteil, Créteil 94000, France.
Josseline KaplanLaboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.
Mitali PatelGenetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.ORCID 0000-0002-8098-2344
Lisa McKieMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0001-9350-4344
Roly MegawMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0001-5605-4540
Christos GatsogiannisCenter for Soft Nanoscience and Institute of Medical Physics and Biophysics, Münster 48149, Germany.
Mai A MohamedGenetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.
Stuart AitkenMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0003-4867-4568
Philippe GautierMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0003-3019-6262
Finn R ReinholtCore Facility for Electron Microscopy, Department of Pathology, Oslo University Hospital-Rikshospitalet, Oslo 0372, Norway.
Robert A HirstCentre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK.
Chris O'CallaghanCentre for PCD Diagnosis and Research, Department of Respiratory Sciences, University of Leicester, Leicester LE1 9HN, UK.
Ketil HeimdalDepartment of Medical Genetics, Oslo University Hospital, Oslo 0407, Norway.ORCID 0000-0002-8911-3508
Mathieu BottierRespiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.ORCID 0000-0002-3148-6491
Estelle EscudierSorbonne Université, INSERM, Childhood Genetic Disorders, Paris 75012, France.ORCID 0000-0002-1569-8072
Suzanne CrowleyPaediatric Department of Allergy and Lung Diseases, Oslo University Hospital, Oslo 0407, Norway.ORCID 0000-0003-2786-8718
Maria DescartesDepartment of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.ORCID 0000-0003-4173-8004
Ethylin W JabsDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York 10029-6504, New York, USA.ORCID 0000-0001-8983-5466
Priti KeniaDepartment of Paediatric Respiratory Medicine, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham B15 2TG, UK.
Jeanne AmielDépartement de Génétique, Hôpital Necker-Enfants Malades, Assistance Publique Hôpitaux de Paris (AP-HP), Paris 75015, France.
Giacomo Maria BacciPediatric Ophthalmology Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.ORCID 0000-0002-8741-4833
Claudia CalogeroPediatric Pulmonary Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.ORCID 0000-0002-7397-7395
Viviana PalazzoMedical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.
Lucia TiberiMedical Genetics Unit, Meyer Children's Hospital IRCCS, Florence 50139, Italy.ORCID 0000-0002-4365-0172
Ulrike BlümleinCarl-Thiem-Klinikum Cottbus, Cottbus 03048, Germany.
Andrew RogersRespiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK.
Jennifer A WambachDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.ORCID 0000-0002-9299-0499
Daniel J WegnerDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.ORCID 0000-0002-7721-3608
Anne B FultonDepartment of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.ORCID 0000-0002-5752-2614
Margaret KennaDepartment of Otolaryngology, Boston Children's Hospital, Boston, MA 02115, USA.ORCID 0000-0003-0851-9272
Margaret RosenfeldDepartment of Pediatrics, University of Washington School of Medicine and Seattle Children's Research Institute, Seattle, WA 98015, USA.
Ingrid A HolmDivision of Genetics and Genomics and the Manton Center for Orphan Diseases Research, Boston Children's Hospital, Boston, MA 02115, USA.
Alan QuigleyDepartment of Paediatric Radiology, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.ORCID 0000-0001-9809-4583
Emma A HallMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0002-6944-6719
Laura C MurphyMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0003-0029-0434
Diane M CassidyRespiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.ORCID 0009-0002-9695-4329
Alex von KriegsheimCancer Research UK Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0002-4952-8573
Scottish Genomes Partnership16
Genomics England Research Consortium45
Undiagnosed Diseases Network46
Jean-François PaponENT Department, Bicêtre Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris-Saclay University, Le Kremlin-Bicêtre 94270, France.
Laurent PasquierMedical Genetics Department, CHU Pontchaillou, Rennes 35033, France.ORCID 0000-0003-3985-1286
Marlène S MurrisDepartment of Pulmonology, Transplantation, and Cystic Fibrosis Centre, Larrey Hospital, Toulouse 31400, France.ORCID 0000-0003-2881-2740
James D ChalmersRespiratory Research Group, Molecular and Cellular Medicine, University of Dundee, Dundee DD1 9SY, UK.ORCID 0000-0001-5514-7868
Claire HoggRespiratory Paediatrics, Royal Brompton Hospital, London SW3 6NP, UK.ORCID 0000-0002-8368-5994
Kenneth A MacleodDepartment of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.ORCID 0000-0001-5837-699X
Don S UrquhartDepartment of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.ORCID 0000-0002-9048-9692
Stefan UngerDepartment of Paediatric Respiratory and Sleep Medicine, Royal Hospital for Children and Young People, Edinburgh EH16 4TJ, UK.ORCID 0000-0001-7089-5063
Timothy J AitmanCentre for Genomic and Experimental Medicine, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0002-7875-4502
Serge AmselemMolecular Genetics Laboratory, Sorbonne Université, Assistance Publique - Hôpitaux de Paris (AP-HP), Hôpital Armand Trousseau, Paris 75012, France.
Margaret W LeighDepartment of Pediatrics, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA.ORCID 0000-0002-6420-2459
Michael R KnowlesDepartment of Medicine, Marsico Lung Institute, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599-7248, USA.
Heymut OmranDepartment of General Pediatrics, University Children's Hospital Münster, Münster 48149, Germany.ORCID 0000-0003-0282-6765
Hannah M MitchisonGenetics and Genomic Medicine Department, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.ORCID 0000-0002-3163-6293
Alan BrownDepartment of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA 02215, USA.ORCID 0000-0002-0021-0476
Joseph A MarshMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0003-4132-0628
Julie P I WelburnWellcome Trust Centre for Cell Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3BF, UK.
Shih-Chieh TiSchool of Biomedical Sciences, The University of Hong Kong, Hong Kong SAR, China.ORCID 0000-0002-0517-0899
Amjad HoraniDepartment of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130, USA.ORCID 0000-0002-5352-1948
Jean-Michel RozetLaboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.ORCID 0000-0001-7951-7886
Isabelle PerraultLaboratory of Genetics in Ophthalmology, INSERM UMR_1163, Institute of Genetic Diseases, Institut Imagine, Université de Paris, Paris 75015, France.ORCID 0000-0002-8560-1379
Pleasantine MillMRC Human Genetics Unit, MRC Institute of Genetics and Cancer, University of Edinburgh, Edinburgh EH4 2XU, UK.ORCID 0000-0001-5218-134X
Institute of Genetics and Cancer · GBInserm · FRUniversity of Dundee · GBUniversity of North Carolina at Chapel Hill · USHarvard University · USMeyer Children's Hospital · ITRoyal Hospital for Children · GBWashington University in St. Louis · USBoston Children's Hospital · USOslo University Hospital · NOInstitute of Child Health · INRoyal Brompton Hospital · GBUniversité Paris-Saclay · FRUniversity Hospital Münster · DEUniversity of Leicester · GBBirmingham Women’s and Children’s NHS Foundation Trust · GBCarl-Thiem-Klinikum Cottbus · DECenter for NanoScience · DECentre National de la Recherche Scientifique · FREdinburgh Cancer Research · GB
Funding
The Impact of COVID-19 on People Living with Rare Diseases and Their FamiliesU2CTR002818 · NCATS · CINCINNATI CHILDRENS HOSP MED CTR · PI Maurizio Macaluso, Michael Wagner · 2019 to 2026
$51.2MLongitudinal Characterization of Respiratory Tract Exacerbations and Treatment Responses in Primary Ciliary DyskinesiaU54HL096458 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI DAVIS, STEPHANIE DUGGINS, FERKOL, THOMAS W · 2009 to 2023
$20.0MYale Center for Mendelian GenomicsUM1HG006504 · NHGRI · YALE UNIVERSITY · PI GERSTEIN, MARK BENDER, GUNEL, MURAT · 2016 to 2020
$14.8MCenter for Integrated Approaches to Undiagnosed DiseasesU01HG007690 · NHGRI · BRIGHAM AND WOMEN'S HOSPITAL · PI LOSCALZO, JOSEPH · 2014 to 2022
$10.4MPathogenesis of PCD Lung DiseaseR01HL071798 · NHLBI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI KNOWLES, MICHAEL R · 2004 to 2021
$7.2MFunctional Characterization of ABCA3 Genomic VariantsR01HL149853 · NHLBI · WASHINGTON UNIVERSITY · PI Jennifer Wambach · 2020 to 2026
$3.9MMechanoregulation of Ciliary MotilityR01GM141109 · NIGMS · HARVARD MEDICAL SCHOOL · PI BROWN, ALAN · 2021 to 2025
$2.1MThe Role of Dynein Motor Mutations in Motile Cilia DiseaseK08HL150223 · NHLBI · WASHINGTON UNIVERSITY · PI HORANI, AMJAD · 2020 to 2024
$797kMedical Research Council MC_UU_00007/14NCATS NIH HHS U2C TR002818NHGRI NIH HHS U01 HG007690NHGRI NIH HHS UM1 HG006504NHLBI NIH HHS K08 HL150223NHLBI NIH HHS R01 HL071798NHLBI NIH HHS R01 HL149853NHLBI NIH HHS U54 HL096458NIGMS NIH HHS R01 GM141109Wellcome Trust
Abstract
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- 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
Indexed as
AxonemeCentriolesCiliaCiliary Motility DisordersTubulinAnimalsFemaleHumansMaleMiceMice, KnockoutMutationProtein IsoformsProtein IsoformsTUBB4B protein, humanTubulin
Identifiers
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