{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T14:07:10Z","timestamp":1791900430999,"version":"4.3.4"},"reference-count":30,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2007,6,3]],"date-time":"2007-06-03T00:00:00Z","timestamp":1180828800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2007,7]]},"DOI":"10.1038\/ng2066","type":"journal-article","created":{"date-parts":[[2007,6,3]],"date-time":"2007-06-03T13:17:36Z","timestamp":1180876656000},"page":"889-895","source":"Crossref","is-referenced-by-count":163,"title":["Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis"],"prefix":"10.1038","volume":"39","author":[{"given":"Anneke I","family":"den Hollander","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert K","family":"Koenekoop","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moin D","family":"Mohamed","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heleen H","family":"Arts","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karsten","family":"Boldt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katherine V","family":"Towns","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Sedmak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Beer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kerstin","family":"Nagel-Wolfrum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martin","family":"McKibbin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sharola","family":"Dharmaraj","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irma","family":"Lopez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lenka","family":"Ivings","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Grange A","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Springell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C Geoff","family":"Woods","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hussain","family":"Jafri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasmin","family":"Rashid","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tim M","family":"Strom","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bert","family":"van der Zwaag","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ilse","family":"Gosens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ferry F J","family":"Kersten","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erwin","family":"van Wijk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joris A","family":"Veltman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marijke N","family":"Zonneveld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia E C","family":"van Beersum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene H","family":"Maumenee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Uwe","family":"Wolfrum","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E","family":"Cheetham","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marius","family":"Ueffing","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frans P M","family":"Cremers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris F","family":"Inglehearn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronald","family":"Roepman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2007,6,3]]},"reference":[{"key":"BFng2066_CR1","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1086\/302719","volume":"66","author":"S Dharmaraj","year":"2000","unstructured":"Dharmaraj, S. et al. A novel locus for Leber congenital amaurosis maps to chromosome 6q. Am. J. Hum. Genet. 66, 319\u2013326 (2000).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2066_CR2","doi-asserted-by":"publisher","first-page":"473","DOI":"10.1136\/bjo.87.4.473","volume":"87","author":"MD Mohamed","year":"2003","unstructured":"Mohamed, M.D. et al. Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus. Br. J. Ophthalmol. 87, 473\u2013475 (2003).","journal-title":"Br. J. Ophthalmol."},{"key":"BFng2066_CR3","doi-asserted-by":"publisher","first-page":"451","DOI":"10.1074\/mcp.M200037-MCP200","volume":"1","author":"LE Ostrowski","year":"2002","unstructured":"Ostrowski, L.E. et al. A proteomic analysis of human cilia: identification of novel components. Mol. Cell. Proteomics 1, 451\u2013465 (2002).","journal-title":"Mol. Cell. Proteomics"},{"key":"BFng2066_CR4","doi-asserted-by":"publisher","first-page":"961","DOI":"10.1038\/ng0906-961","volume":"38","author":"A Gherman","year":"2006","unstructured":"Gherman, A., Davis, E.E. & Katsanis, N. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia. Nat. Genet. 38, 961\u2013962 (2006).","journal-title":"Nat. Genet."},{"key":"BFng2066_CR5","doi-asserted-by":"publisher","first-page":"51472","DOI":"10.1074\/jbc.M406770200","volume":"279","author":"A Giessl","year":"2004","unstructured":"Giessl, A. et al. Differential expression and interaction with the visual G-protein transducin of centrin isoforms in mammalian photoreceptor cells. J. Biol. Chem. 279, 51472\u201351481 (2004).","journal-title":"J. Biol. Chem."},{"key":"BFng2066_CR6","doi-asserted-by":"publisher","first-page":"1095","DOI":"10.1091\/mbc.e04-10-0939","volume":"16","author":"G Guarguaglini","year":"2005","unstructured":"Guarguaglini, G. et al. The forkhead-associated domain protein Cep170 interacts with Polo-like kinase 1 and serves as a marker for mature centrioles. Mol. Biol. Cell 16, 1095\u20131107 (2005).","journal-title":"Mol. Biol. Cell"},{"key":"BFng2066_CR7","doi-asserted-by":"publisher","first-page":"321","DOI":"10.1083\/jcb.147.2.321","volume":"147","author":"NJ Quintyne","year":"1999","unstructured":"Quintyne, N.J. et al. Dynactin is required for microtubule anchoring at centrosomes. J. Cell Biol. 147, 321\u2013334 (1999).","journal-title":"J. Cell Biol."},{"key":"BFng2066_CR8","doi-asserted-by":"publisher","first-page":"963","DOI":"10.1083\/jcb.200305082","volume":"162","author":"A Burakov","year":"2003","unstructured":"Burakov, A., Nadezhdina, E., Slepchenko, B. & Rodionov, V. Centrosome positioning in interphase cells. J. Cell Biol. 162, 963\u2013969 (2003).","journal-title":"J. Cell Biol."},{"key":"BFng2066_CR9","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1038\/13732","volume":"17","author":"G Rigaut","year":"1999","unstructured":"Rigaut, G. et al. A generic protein purification method for protein complex characterization and proteome exploration. Nat. Biotechnol. 17, 1030\u20131032 (1999).","journal-title":"Nat. Biotechnol."},{"key":"BFng2066_CR10","doi-asserted-by":"publisher","first-page":"6621","DOI":"10.1016\/j.febslet.2005.10.057","volume":"579","author":"K Shinmura","year":"2005","unstructured":"Shinmura, K., Tarapore, P., Tokuyama, Y., George, K.R. & Fukasawa, K. Characterization of centrosomal association of nucleophosmin\/B23 linked to Crm1 activity. FEBS Lett. 579, 6621\u20136634 (2005).","journal-title":"FEBS Lett."},{"key":"BFng2066_CR11","doi-asserted-by":"publisher","first-page":"9016","DOI":"10.1128\/MCB.01383-06","volume":"26","author":"Z Ma","year":"2006","unstructured":"Ma, Z. et al. Interaction between ROCK II and nucleophosmin\/B23 in the regulation of centrosome duplication. Mol. Cell. Biol. 26, 9016\u20139034 (2006).","journal-title":"Mol. Cell. Biol."},{"key":"BFng2066_CR12","doi-asserted-by":"publisher","first-page":"35726","DOI":"10.1074\/jbc.M403264200","volume":"279","author":"H Zhang","year":"2004","unstructured":"Zhang, H. et al. B23\/nucleophosmin serine 4 phosphorylation mediates mitotic functions of polo-like kinase 1. J. Biol. Chem. 279, 35726\u201335734 (2004).","journal-title":"J. Biol. Chem."},{"key":"BFng2066_CR13","doi-asserted-by":"publisher","first-page":"1183","DOI":"10.1093\/hmg\/ddi129","volume":"14","author":"X Shu","year":"2005","unstructured":"Shu, X. et al. RPGR ORF15 isoform co-localizes with RPGRIP1 at centrioles and basal bodies and interacts with nucleophosmin. Hum. Mol. Genet. 14, 1183\u20131197 (2005).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2066_CR14","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1242\/jcs.112.6.761","volume":"112","author":"H Ginisty","year":"1999","unstructured":"Ginisty, H., Sicard, H., Roger, B. & Bouvet, P. Structure and functions of nucleolin. J. Cell Sci. 112, 761\u2013772 (1999).","journal-title":"J. Cell Sci."},{"key":"BFng2066_CR15","doi-asserted-by":"publisher","first-page":"15662","DOI":"10.1074\/jbc.271.26.15662","volume":"271","author":"D Li","year":"1996","unstructured":"Li, D., Dobrowolska, G. & Krebs, E.G. The physical association of casein kinase 2 with nucleolin. J. Biol. Chem. 271, 15662\u201315668 (1996).","journal-title":"J. Biol. Chem."},{"key":"BFng2066_CR16","doi-asserted-by":"publisher","first-page":"114","DOI":"10.1002\/(SICI)1097-0169(1999)43:2<114::AID-CM3>3.0.CO;2-M","volume":"43","author":"BA Hollander","year":"1999","unstructured":"Hollander, B.A., Liang, M.Y. & Besharse, J.C. Linkage of a nucleolin-related protein and casein kinase II with the detergent-stable photoreceptor cytoskeleton. Cell Motil. Cytoskeleton 43, 114\u2013127 (1999).","journal-title":"Cell Motil. Cytoskeleton"},{"key":"BFng2066_CR17","doi-asserted-by":"publisher","first-page":"4433","DOI":"10.1074\/jbc.M310563200","volume":"279","author":"AC Lim","year":"2004","unstructured":"Lim, A.C., Tiu, S.Y., Li, Q. & Qi, R.Z. Direct regulation of microtubule dynamics by protein kinase CK2. J. Biol. Chem. 279, 4433\u20134439 (2004).","journal-title":"J. Biol. Chem."},{"key":"BFng2066_CR18","doi-asserted-by":"publisher","first-page":"2155","DOI":"10.1007\/s000180200022","volume":"59","author":"M Faust","year":"2002","unstructured":"Faust, M., Gunther, J., Morgenstern, E., Montenarh, M. & Gotz, C. Specific localization of the catalytic subunits of protein kinase CK2 at the centrosomes. Cell. Mol. Life Sci. 59, 2155\u20132164 (2002).","journal-title":"Cell. Mol. Life Sci."},{"key":"BFng2066_CR19","doi-asserted-by":"publisher","first-page":"4415","DOI":"10.1038\/sj.emboj.7600885","volume":"24","author":"B Schermer","year":"2005","unstructured":"Schermer, B. et al. Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia. EMBO J. 24, 4415\u20134424 (2005).","journal-title":"EMBO J."},{"key":"BFng2066_CR20","doi-asserted-by":"publisher","first-page":"2200","DOI":"10.1091\/mbc.e05-10-0935","volume":"17","author":"J Hu","year":"2006","unstructured":"Hu, J., Bae, Y.K., Knobel, K.M. & Barr, M.M. Casein kinase II and calcineurin modulate TRPP function and ciliary localization. Mol. Biol. Cell 17, 2200\u20132211 (2006).","journal-title":"Mol. Biol. Cell"},{"key":"BFng2066_CR21","doi-asserted-by":"publisher","first-page":"228","DOI":"10.1038\/sj.cr.7290291","volume":"15","author":"P Mhawech","year":"2005","unstructured":"Mhawech, P. 14\u20133-3 proteins\u2014an update. Cell Res. 15, 228\u2013236 (2005).","journal-title":"Cell Res."},{"key":"BFng2066_CR22","doi-asserted-by":"publisher","first-page":"225","DOI":"10.1006\/bcmd.1996.0103","volume":"22","author":"SF Pietromonaco","year":"1996","unstructured":"Pietromonaco, S.F., Seluja, G.A., Aitken, A. & Elias, L. Association of 14\u20133-3 proteins with centrosomes. Blood Cells Mol. Dis. 22, 225\u2013237 (1996).","journal-title":"Blood Cells Mol. Dis."},{"key":"BFng2066_CR23","doi-asserted-by":"publisher","first-page":"1203","DOI":"10.1016\/j.bbrc.2006.02.089","volume":"342","author":"CY Chen","year":"2006","unstructured":"Chen, C.Y., Olayioye, M.A., Lindeman, G.J. & Tang, T.K. CPAP interacts with 14\u20133-3 in a cell cycle-dependent manner. Biochem. Biophys. Res. Commun. 342, 1203\u20131210 (2006).","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"BFng2066_CR24","doi-asserted-by":"publisher","first-page":"1847","DOI":"10.1093\/hmg\/ddl107","volume":"15","author":"B Chang","year":"2006","unstructured":"Chang, B. et al. In-frame deletion in a novel centrosomal\/ciliary protein CEP290\/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum. Mol. Genet. 15, 1847\u20131857 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2066_CR25","doi-asserted-by":"publisher","first-page":"556","DOI":"10.1086\/507318","volume":"79","author":"AI den Hollander","year":"2006","unstructured":"den Hollander, A.I. et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. Am. J. Hum. Genet. 79, 556\u2013561 (2006).","journal-title":"Am. J. Hum. Genet."},{"key":"BFng2066_CR26","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1038\/ng1786","volume":"38","author":"JA Sayer","year":"2006","unstructured":"Sayer, J.A. et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat. Genet. 38, 674\u2013681 (2006).","journal-title":"Nat. Genet."},{"key":"BFng2066_CR27","doi-asserted-by":"publisher","first-page":"623","DOI":"10.1038\/ng1805","volume":"38","author":"EM Valente","year":"2006","unstructured":"Valente, E.M. et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome. Nat. Genet. 38, 623\u2013625 (2006).","journal-title":"Nat. Genet."},{"key":"BFng2066_CR28","doi-asserted-by":"publisher","first-page":"751","DOI":"10.1093\/hmg\/ddi490","volume":"15","author":"E van Wijk","year":"2006","unstructured":"van Wijk, E. et al. The DFNB31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH2A and VLGR1. Hum. Mol. Genet. 15, 751\u2013765 (2006).","journal-title":"Hum. Mol. Genet."},{"key":"BFng2066_CR29","doi-asserted-by":"publisher","first-page":"18520","DOI":"10.1073\/pnas.0505774102","volume":"102","author":"R Roepman","year":"2005","unstructured":"Roepman, R. et al. Interaction of nephrocystin-4 and RPGRIP1 is disrupted by nephronophthisis or Leber congenital amaurosis-associated mutations. Proc. Natl. Acad. Sci. USA 102, 18520\u201318525 (2005).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng2066_CR30","doi-asserted-by":"publisher","first-page":"4749","DOI":"10.1523\/JNEUROSCI.16-15-04749.1996","volume":"16","author":"JH Brandstatter","year":"1996","unstructured":"Brandstatter, J.H., Koulen, P., Kuhn, R., van der, P.H. & Wassle, H. Compartmental localization of a metabotropic glutamate receptor (mGluR7): two different active sites at a retinal synapse. J. Neurosci. 16, 4749\u20134756 (1996).","journal-title":"J. Neurosci."}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng2066.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng2066","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng2066.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T18:14:26Z","timestamp":1684433666000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng2066"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,6,3]]},"references-count":30,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2007,7]]}},"alternative-id":["BFng2066"],"URL":"https:\/\/doi.org\/10.1038\/ng2066","relation":{"has-review":[{"id-type":"doi","id":"10.3410\/f.1087342.540367","asserted-by":"object"}]},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,6,3]]}}}