Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes.
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| Title: | Mutations in the β-tubulin TUBB impair ciliogenesis and are associated with ciliopathy-like phenotypes. |
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| Authors: | Mollica A; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Biochemistry, University of Toronto, Toronto, ON, Canada., Omer S; Department of Biological Sciences, University of Toronto Scarborough, Toronto, ON, Canada., Forguson G; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Steiman S; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Physiology, University of Toronto, Toronto, ON, Canada., Evagelou SL; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Naumenko S; Department of Biostatistics, Harvard Chan School of Public Health, Boston, MA, USA., Walker S; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, ON, Canada., Li LY; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Teeling A; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Lindsay K; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Erwood S; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada., Visuvanathan S; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Vig A; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada., Vernon RM; Molecular Medicine Program, The Hospital for Sick Children, Toronto, ON, Canada., Akman B; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Forman-Kay JD; Department of Biochemistry, University of Toronto, Toronto, ON, Canada.; Molecular Medicine Program, The Hospital for Sick Children, Toronto, ON, Canada., Shroff M; Division of Neuroradiology, Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Medical Imaging, University of Toronto, Toronto, ON, Canada., Pai V; Division of Neuroradiology, Department of Diagnostic and Interventional Radiology, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Medical Imaging, University of Toronto, Toronto, ON, Canada., Harrison RE; Department of Biological Sciences, University of Toronto Scarborough, Toronto, ON, Canada., Cohn RD; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Department of Pediatrics, The Hospital for Sick Children, Toronto, ON, Canada., Ivakine EA; Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada. zhenya.ivakine@sickkids.ca.; Department of Physiology, University of Toronto, Toronto, ON, Canada. zhenya.ivakine@sickkids.ca.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada. zhenya.ivakine@sickkids.ca. |
| Source: | Nature communications [Nat Commun] 2025 Nov 27; Vol. 16 (1), pp. 10637. Date of Electronic Publication: 2025 Nov 27. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2041-1723 |
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| DOI: | 10.1038/s41467-025-65634-x |
