When cilia go bad: cilia defects and ciliopathies

Overview of Structure and Function of Mammalian Cilia

Satir, P., & Christensen, S. T. (2007) · Annual Review of Physiology · doi:10.1146/annurev.physiol.69.040705.141236 · Cited by 1,142 · cited 1× · see citing works

HEF1-Dependent Aurora A Activation Induces Disassembly of the Primary Cilium

Pugacheva, E. N., Jablonski, S. A., Hartman, T. R., Henske, E. P., & Golemis, E. A. (2007) · Cell · doi:10.1016/j.cell.2007.04.035 · Cited by 890 · see citing works

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

Simons, M., Gloy, J., Ganner, A., Bullerkotte, A., Bashkurov, M., Krönig, C., Schermer, B., Benzing, T., Cabello, O. A., Jenny, A., et al. (2005) · Nature Genetics · doi:10.1038/ng1552 · Cited by 767 · see citing works

Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

Park, T. J., Haigo, S. L., & Wallingford, J. B. (2006) · Nature Genetics · doi:10.1038/ng1753 · Cited by 389 · see citing works

Genetic basis for congenital heart disease: Revisited: A scientific statement from the American Heart Association

Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654 · see citing works

Chapter Two Intraflagellar Transport (IFT)

Pedersen, L. B., & Rosenbaum, J. L. (2008) · Current Topics in Developmental Biology · doi:10.1016/s0070-2153(08)00802-8 · Cited by 521 · see citing works

Bardet–Biedl syndrome proteins are required for the localization of G protein-coupled receptors to primary cilia

Berbari, N. F., Lewis, J. S., Bishop, G. A., Askwith, C. C., & Mykytyn, K. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0711027105 · Cited by 474 · see citing works

Proteomics of Primary Cilia by Proximity Labeling

Mick, D. U., Rodrigues, R. B., Leib, R. D., Adams, C. M., Chien, A. S., Gygi, S. P., & Nachury, M. V. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.10.015 · Cited by 409 · see citing works

Motile ciliopathies

Wallmeier, J., Nielsen, K. G., Kuehni, C. E., Lucas, J. S., Leigh, M. W., Zariwala, M. A., & Omran, H. (2020) · Nature Reviews Disease Primers · doi:10.1038/s41572-020-0209-6 · Cited by 403 · see citing works

The Intraflagellar Transport Machinery

Taschner, M., & Lorentzen, E. (2016) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028092 · Cited by 349 · see citing works

Biallelic Mutations in CFAP43 and CFAP44 Cause Male Infertility with Multiple Morphological Abnormalities of the Sperm Flagella

Tang, S., Wang, X., Li, W., Yang, X., Li, Z., Liu, W., Li, C., Zhu, Z., Wang, L., Wang, J., et al. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.04.012 · Cited by 304 · see citing works

Primary cilium-dependent signaling mechanisms

Pala, R., Alomari, N., & Nauli, S. (2017) · International Journal of Molecular Sciences · doi:10.3390/ijms18112272 · Cited by 205 · see citing works

Primary cilia and coordination of receptor tyrosine kinase (RTK) signalling

Christensen, S. T., Clement, C. A., Satir, P., & Pedersen, L. B. (2012) · The Journal of Pathology · doi:10.1002/path.3004 · Cited by 181 · see citing works

CCDC151 Mutations Cause Primary Ciliary Dyskinesia by Disruption of the Outer Dynein Arm Docking Complex Formation

Hjeij, R., Onoufriadis, A., Watson, C. M., Slagle, C. E., Klena, N. T., Dougherty, G. W., Kurkowiak, M., Loges, N. T., Diggle, C. P., Morante, N. F. C., et al. (2014) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2014.08.005 · Cited by 174 · see citing works

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

Marion, V., Stoetzel, C., Schlicht, D., Messaddeq, N., Koch, M., Flori, E., Danse, J. M., Mandel, J.-L., & Dollfus, H. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0812518106 · Cited by 178 · see citing works

Trafficking of ciliary membrane proteins by the intraflagellar transport/BBSome machinery

Wingfield, J. L., Lechtreck, K.-F., & Lorentzen, E. (2018) · Essays in Biochemistry · doi:10.1042/ebc20180030 · Cited by 157 · see citing works

Scribble participates in Hippo signaling and is required for normal zebrafish pronephros development

Skouloudaki, K., Puetz, M., Simons, M., Courbard, J.-R., Boehlke, C., Hartleben, B., Engel, C., Moeller, M. J., Englert, C., Bollig, F., et al. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811691106 · Cited by 163 · see citing works

Intraflagellar transport complex structure and cargo interactions

Bhogaraju, S., Engel, B. D., & Lorentzen, E. (2013) · Cilia · doi:10.1186/2046-2530-2-10 · Cited by 111 · see citing works

Opportunities and Challenges for Molecular Understanding of Ciliopathies–The 100,000 Genomes Project

Wheway, G., Genomics England Research Consortium, & Mitchison, H. M. (2019) · Frontiers in Genetics · doi:10.3389/fgene.2019.00127 · Cited by 99 · see citing works

CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module

Dougherty, G. W., Mizuno, K., Nöthe-Menchen, T., Ikawa, Y., Boldt, K., Ta-Shma, A., Aprea, I., Minegishi, K., Pang, Y.-P., Pennekamp, P., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-19113-0 · Cited by 88 · see citing works

Intraflagellar transport dynein is autoinhibited by trapping of its mechanical and track-binding elements

Toropova, K., Mladenov, M., & Roberts, A. J. (2017) · Nature Structural & Molecular Biology · doi:10.1038/nsmb.3391 · Cited by 85 · see citing works

Neuronal and astrocytic primary cilia in the mature brain

Sterpka, A., & Chen, X. (2018) · Pharmacological Research · doi:10.1016/j.phrs.2018.10.002 · Cited by 80 · see citing works

A human laterality disorder associated with a homozygous WDR16 deletion

Ta-Shma, A., Perles, Z., Yaacov, B., Werner, M., Frumkin, A., Rein, A. J., & Elpeleg, O. (2015) · European Journal of Human Genetics · doi:10.1038/ejhg.2014.265 · Cited by 70 · see citing works

Evolutionarily Ancient Association of the FoxJ1 Transcription Factor with the Motile Ciliogenic Program

Vij, S., Rink, J. C., Ho, H. K., Babu, D., Eitel, M., Narasimhan, V., Tiku, V., Westbrook, J., Schierwater, B., & Roy, S. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1003019 · Cited by 65 · see citing works

The Ciliary Protein Nephrocystin-4 Translocates the Canonical Wnt Regulator Jade-1 to the Nucleus to Negatively Regulate β-Catenin Signaling

Borgal, L., Habbig, S., Hatzold, J., Liebau, M. C., Dafinger, C., Sacarea, I., Hammerschmidt, M., Benzing, T., & Schermer, B. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.385658 · Cited by 56 · see citing works

<i>Tetrahymena</i> RIB72A and RIB72B are microtubule inner proteins in the ciliary doublet microtubules

Stoddard, D., Zhao, Y., Bayless, B. A., Gui, L., Louka, P., Dave, D., Suryawanshi, S., Tomasi, R. F.-X., Dupuis-Williams, P., Baroud, C. N., et al. (2018) · Molecular Biology of the Cell · doi:10.1091/mbc.e18-06-0405 · Cited by 53 · see citing works

Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies

Chen, H. Y., Welby, E., Li, T., & Swaroop, A. (2019) · Translational Science of Rare Diseases · doi:10.3233/trd-190038 · Cited by 44 · see citing works

Loss of ift122, a Retrograde Intraflagellar Transport (IFT) Complex Component, Leads to Slow, Progressive Photoreceptor Degeneration Due to Inefficient Opsin Transport

Boubakri, M., Chaya, T., Hirata, H., Kajimura, N., Kuwahara, R., Ueno, A., Malicki, J., Furukawa, T., & Omori, Y. (2016) · Journal of Biological Chemistry · doi:10.1074/jbc.m116.738658 · Cited by 39 · see citing works

Astrocyte-specific inhibition of the primary cilium suppresses C3 expression in reactive astrocyte

Muhamad, N. A., Masutani, K., Furukawa, S., Yuri, S., Toriyama, M., Matsumoto, C., Itoh, S., Shinagawa, Y., Isotani, A., Toriyama, M., et al. (2024) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-024-01482-5 · Cited by 8 · see citing works

A genetic screen in Drosophila reveals an unexpected role for the KIP1 ubiquitination-promoting complex in male fertility

Li, W., Liang, J., Outeda, P., Turner, S., Wakimoto, B. T., & Watnick, T. (2020) · PLOS Genetics · doi:10.1371/journal.pgen.1009217 · Cited by 6 · see citing works