Molecular basis underlying the ciliary defects caused by IFT52variations found in skeletal ciliopathies

Autor: Ishida, Yamato, Tasaki, Koshi, Katoh, Yohei, Nakayama, Kazuhisa
Zdroj: Molecular Biology of the Cell; August 2022, Vol. 33 Issue: 9
Abstrakt: Mutations of IFT52, a subunit of the IFT-B complex, cause skeletal ciliopathies. IFT52 variants found in ciliopathy individuals are compromised in terms of IFT-B complex formation from two subcomplexes and its interaction with kinesin-II. IFT52-KO cells expressing IFT52 variants showed mild ciliogenesis defects and a decrease in ciliary IFT-B level.
Databáze: Supplemental Index