TTBK2 mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins
J. Munoz-Estrada, A. V. Nguyen, S. C. Goetz
This study identifies a neomorphic function of TTBK2 mutations in SCA11, showing they disrupt peroxisome dynamics and ciliary SHH signaling protein trafficking.
bioRxiv · Jan 31, 2023 · PreprintCell Biology