Article
The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.
Nature genetics - 1 Jun 2016
Toriyama Michinori, Lee Chanjae, Taylor S Paige, Duran Ivan, Cohn Daniel H, Bruel Ange-Line, Tabler Jacqueline M, Drew Kevin, Kelly Marcus R, Kim Sukyoung, Park Tae Joo, Braun Daniela A, Pierquin Ghislaine, Biver Armand, Wagner Kerstin, Malfroot Anne, Panigrahi Inusha, Franco Brunella, Al-Lami Hadeel Adel, Yeung Yvonne, Choi Yeon Ja, Duffourd Yannis, Faivre Laurence, Rivière Jean-Baptiste, Chen Jiang, Liu Karen J, Marcotte Edward M, Hildebrandt Friedhelm, Thauvin-Robinet Christel, Krakow Deborah, Jackson Peter K, Wallingford John B
Abstract excerpt
Cilia use microtubule-based intraflagellar transport (IFT) to organize intercellular signaling. Ciliopathies are a spectrum of human diseases resulting from defects in cilia structure or function. The mechanisms regulating the assembly of ciliary multiprotein complexes and the transport of these...
Topics
- Animals
- Ciliopathies
- Flagella
- Humans
- Mice
- Mutation
- Phenotype
- Protein Binding
- Protein Transport