Genetic & Genomic MedicineNature CommunicationsPeer-reviewed
Brain development mutations in the β-tubulin TUBB result in defective ciliogenesis
Antonio Mollica, Safia Omer, Georgiana Forguson…·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.
2 citations