Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis
Antonio Mollica, Safia Omer, Georgiana Forguson, Sydney Steiman, Sonia L. Evagelou, Serhiy Naumenko, Susan Walker, L Y Li, Aideen Teeling, Kyle Lindsay, Steven Erwood, Shagana Visuvanathan, Anjali Vig, Robert McCoy Vernon, Benjamin Akman, , Evgueni A. Ivakine
The paper identifies a novel TUBB mutation linked to both ciliopathy and tubulinopathy brain features, showing it impairs ciliogenesis by altering microtubule dynamics.
Nature Communications · Nov 27, 2025Peer-reviewedGenetic & Genomic Medicine