TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum
Daniel O Dodd, Sabrina Méchaussier, Patricia Levy Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Carolin Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, , Pleasantine Mill
The paper identifies TUBB4B mutations causing distinct ciliopathic diseases by affecting microtubule dynamics and cilia formation in humans and mice.
Science · Apr 25, 2024Peer-reviewedGenetic & Genomic Medicine