Article
Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome.
Human molecular genetics - 1 Jan 2015
Bujakowska Kinga M, Zhang Qi, Siemiatkowska Anna M, Liu Qin, Place Emily, Falk Marni J, Consugar Mark, Lancelot Marie-Elise, Antonio Aline, Lonjou Christine, Carpentier Wassila, Mohand-Saïd Saddek, den Hollander Anneke I, Cremers Frans P M, Leroy Bart P, Gai Xiaowu, Sahel José-Alain, van den Born L Ingeborgh, Collin Rob W J, Zeitz Christina, Audo Isabelle, Pierce Eric A
Abstract excerpt
Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium. Mutations in genes coding for IFT components have been associated with a gro...
Topics
- Adaptor Proteins, Signal Transducing
- Adolescent
- Adult
- Animals
- Bardet-Biedl Syndrome
- Carrier Proteins
- Cells, Cultured
- Cytoskeletal Proteins
- Exome
- Female