@article {60,
	title = {The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery.},
	journal = {Nat Genet},
	volume = {48},
	year = {2016},
	month = {2016 06},
	pages = {648-56},
	abstract = {<p>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 complexes to the base of cilia remain largely unknown. Combining proteomics, in vivo imaging and genetic analysis of proteins linked to planar cell polarity (Inturned, Fuzzy and Wdpcp), we identified and characterized a new genetic module, which we term CPLANE (ciliogenesis and planar polarity effector), and an extensive associated protein network. CPLANE proteins physically and functionally interact with the poorly understood ciliopathy-associated protein Jbts17 at basal bodies, where they act to recruit a specific subset of IFT-A proteins. In the absence of CPLANE, defective IFT-A particles enter the axoneme and IFT-B trafficking is severely perturbed. Accordingly, mutation of CPLANE genes elicits specific ciliopathy phenotypes in mouse models and is associated with ciliopathies in human patients.</p>},
	keywords = {Animals, Ciliopathies, Flagella, Humans, Mice, Mutation, Phenotype, Protein Binding, Protein Transport, Proteins},
	issn = {1546-1718},
	doi = {10.1038/ng.3558},
	author = {Toriyama, Michinori and Lee, Chanjae and Taylor, S Paige and Duran, Ivan and Cohn, Daniel H and Bruel, Ange-Line and Tabler, Jacqueline M and Drew, Kevin and Kelly, Marcus R and Kim, Sukyoung and Park, Tae Joo and Braun, Daniela A and Pierquin, Ghislaine and Biver, Armand and Wagner, Kerstin and Malfroot, Anne and Panigrahi, Inusha and Franco, Brunella and Al-Lami, Hadeel Adel and Yeung, Yvonne and Choi, Yeon Ja and Duffourd, Yannis and Faivre, Laurence and Rivi{\`e}re, Jean-Baptiste and Chen, Jiang and Liu, Karen J and Marcotte, Edward M and Hildebrandt, Friedhelm and Thauvin-Robinet, Christel and Krakow, Deborah and Jackson, Peter K and Wallingford, John B}
}
