Article
Tctex1d2 associates with short-rib polydactyly syndrome proteins and is required for ciliogenesis.
Cell cycle (Georgetown, Tex.) - 1 Jan 2015
Gholkar Ankur A, Senese Silvia, Lo Yu-Chen, Capri Joseph, Deardorff William J, Dharmarajan Harish, Contreras Ely, Hodara Emmanuelle, Whitelegge Julian P, Jackson Peter K, Torres Jorge Z
Abstract excerpt
Short-rib polydactyly syndromes (SRPS) arise from mutations in genes involved in retrograde intraflagellar transport (IFT) and basal body homeostasis, which are critical for cilia assembly and function. Recently, mutations in WDR34 or WDR60 (candidate dynein intermediate chains) were identified i...
Topics
- Adaptor Proteins, Signal Transducing
- Carrier Proteins
- Cilia
- Cytoskeletal Proteins
- Dyneins
- HEK293 Cells
- HeLa Cells
- Humans
- Microtubule-Organizing Center
- Mutation
- Protein Transport
- Short Rib-Polydactyly Syndrome