Article
Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.
Human molecular genetics - 1 Feb 2018
Takahara Mariko, Katoh Yohei, Nakamura Kentaro, Hirano Tomoaki, Sugawa Maho, Tsurumi Yuta, Nakayama Kazuhisa
Abstract excerpt
The intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes mediates ciliary protein trafficking. Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including...
Topics
- Adaptor Proteins, Signal Transducing
- Carrier Proteins
- Cell Line
- Ciliopathies
- Cytoskeletal Proteins
- Green Fluorescent Proteins
- Humans
- Microtubule-Associated Proteins
- Mutation
- Mutation, Missense
- Protein Transport
- Proteins
- Signal Transduction