{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T22:06:37Z","timestamp":1790633197086,"version":"4.1.0"},"reference-count":79,"publisher":"Springer Science and Business Media LLC","issue":"3","license":[{"start":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:00:00Z","timestamp":1705449600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T00:00:00Z","timestamp":1705449600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology, Ministry of Science and Technology, India","doi-asserted-by":"publisher","award":["BT\/HRD\/35\/02\/2006 dt. 4\/11\/2015"],"award-info":[{"award-number":["BT\/HRD\/35\/02\/2006 dt. 4\/11\/2015"]}],"id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006125","name":"National Institute for Interdisciplinary Science and Technology","doi-asserted-by":"publisher","award":["Sr. No 1121631243"],"award-info":[{"award-number":["Sr. No 1121631243"]}],"id":[{"id":"10.13039\/501100006125","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100006125","name":"National Institute for Interdisciplinary Science and Technology","doi-asserted-by":"publisher","award":["Ref. No: 18\/12\/2016(ii) EU-V"],"award-info":[{"award-number":["Ref. No: 18\/12\/2016(ii) EU-V"]}],"id":[{"id":"10.13039\/501100006125","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Exp Brain Res"],"published-print":{"date-parts":[[2024,3]]},"DOI":"10.1007\/s00221-023-06762-y","type":"journal-article","created":{"date-parts":[[2024,1,17]],"date-time":"2024-01-17T08:02:21Z","timestamp":1705478541000},"page":"619-637","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Joubert syndrome causing mutation in C2 domain of CC2D2A affects structural integrity of cilia and cellular signaling molecules"],"prefix":"10.1007","volume":"242","author":[{"given":"Roopasree O.","family":"Jayarajan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soura","family":"Chakraborty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kozhiparambil Gopalan","family":"Raghu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jayamurthy","family":"Purushothaman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9653-6939","authenticated-orcid":false,"given":"Shobi","family":"Veleri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2024,1,17]]},"reference":[{"issue":"1","key":"6762_CR1","doi-asserted-by":"publisher","first-page":"44","DOI":"10.1016\/j.neuron.2010.11.042","volume":"69","author":"L Abuin","year":"2011","unstructured":"Abuin L, Bargeton B, Ulbrich MH, Isacoff EY, Kellenberger S, Benton RJN (2011) Functional architecture of olfactory ionotropic glutamate receptors. Neuron 69(1):44\u201360","journal-title":"Neuron"},{"issue":"01","key":"6762_CR2","doi-asserted-by":"publisher","first-page":"023","DOI":"10.1055\/s-0042-1760242","volume":"21","author":"M Amorini","year":"2023","unstructured":"Amorini M, Iapadre G, Mancuso A, Ceravolo I, Farello G, Scardamaglia A et al (2023) An overview of genes involved in the pure joubert syndrome and in joubert syndrome-related disorders (JSRD). J Pediatr Neurol 21(01):023\u2013032","journal-title":"J Pediatr Neurol"},{"issue":"4","key":"6762_CR3","doi-asserted-by":"publisher","first-page":"199","DOI":"10.1038\/s41581-019-0116-9","volume":"15","author":"Z Anvarian","year":"2019","unstructured":"Anvarian Z, Mykytyn K, Mukhopadhyay S, Pedersen LB, Christensen ST (2019) Cellular signaling by primary cilia in development, organ function and disease. Nat Rev Nephrol 15(4):199\u2013219","journal-title":"Nat Rev Nephrol"},{"key":"6762_CR4","unstructured":"Asiya Giniatullina AL, Naomi V, Matthijs V, Alexander JG (2015) C2 domain of CC2D2A does not bind phospholipid membranes C2 Domain Function in Healthy and Diseased Brain. PhD-Thesis\u2014Research andgraduation internal, Vrije Universiteit Amsterdam 26-27-2015 2010:2040:2023. https:\/\/research.vu.nl\/files\/42155530\/chapter%204.pdf"},{"issue":"2","key":"6762_CR5","doi-asserted-by":"publisher","first-page":"126","DOI":"10.1136\/jmedgenet-2011-100552","volume":"49","author":"R Bachmann-Gagescu","year":"2012","unstructured":"Bachmann-Gagescu R, Ishak GE, Dempsey JC, Adkins J, O\u2019Day D, Phelps IG et al (2012) Genotype-phenotype correlation in CC2D2A-related Joubert syndrome reveals an association with ventriculomegaly and seizures. J Med Genet 49(2):126\u2013137. https:\/\/doi.org\/10.1136\/jmedgenet-2011-100552","journal-title":"J Med Genet"},{"issue":"10","key":"6762_CR6","doi-asserted-by":"publisher","first-page":"e1005575","DOI":"10.1371\/journal.pgen.1005575","volume":"11","author":"R Bachmann-Gagescu","year":"2015","unstructured":"Bachmann-Gagescu R, Dona M, Hetterschijt L, Tonnaer E, Peters T, de Vrieze E et al (2015) The ciliopathy protein CC2D2A associates with NINL and functions in RAB8-MICAL3-regulated vesicle trafficking. PLoS Genet 11(10):e1005575","journal-title":"PLoS Genet"},{"issue":"4","key":"6762_CR300","doi-asserted-by":"publisher","first-page":"281","DOI":"10.1002\/ajmg.c.30231","volume":"151C","author":"K Baker","year":"2009","unstructured":"Baker K, Beales PL (2009) Making sense of cilia in disease: the human ciliopathies. Am J Med Genet C Semin Med Genet. 151C(4):281\u201395. https:\/\/doi.org\/10.1002\/ajmg.c.30231. PMID: 19876933","journal-title":"Am J Med Genet C Semin Med Genet."},{"issue":"3","key":"6762_CR8","doi-asserted-by":"publisher","first-page":"357","DOI":"10.1016\/j.stemcr.2020.02.005","volume":"14","author":"A Barabino","year":"2020","unstructured":"Barabino A, Flamier A, Hanna R, H\u00e9on E, Freedman BS, Bernier G (2020) Deregulation of neuro-developmental genes and primary cilium cytoskeleton anomalies in iPSC retinal sheets from human syndromic ciliopathies. Stem Cell Rep 14(3):357\u2013373","journal-title":"Stem Cell Rep"},{"issue":"23","key":"6762_CR9","doi-asserted-by":"publisher","first-page":"4741","DOI":"10.1093\/hmg\/ddx356","volume":"26","author":"P Biswas","year":"2017","unstructured":"Biswas P, Duncan JL, Ali M, Matsui H, Naeem MA, Raghavendra PB et al (2017) A mutation in IFT43 causes non-syndromic recessive retinal degeneration. Hum Mol Genet 26(23):4741\u20134751","journal-title":"Hum Mol Genet"},{"issue":"4","key":"6762_CR10","first-page":"1","volume":"8","author":"C-H Chin","year":"2014","unstructured":"Chin C-H, Chen S-H, Wu H-H, Ho C-W, Ko M-T, Lin C-Y (2014) cytoHubba: identifying hub objects and sub-networks from complex interactome. BMC Syst Biol 8(4):1\u20137","journal-title":"BMC Syst Biol"},{"issue":"2","key":"6762_CR11","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1002\/path.3004","volume":"226","author":"ST Christensen","year":"2012","unstructured":"Christensen ST, Clement CA, Satir P, Pedersen LB (2012) Primary cilia and coordination of receptor tyrosine kinase (RTK) signaling. J Pathol 226(2):172\u2013184","journal-title":"J Pathol"},{"issue":"2","key":"6762_CR12","doi-asserted-by":"publisher","first-page":"382","DOI":"10.1016\/j.ydbio.2012.06.008","volume":"368","author":"KJ Christopher","year":"2012","unstructured":"Christopher KJ, Wang B, Kong Y, Weatherbee SD (2012) Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling. Dev Biol 368(2):382\u2013392","journal-title":"Dev Biol"},{"key":"6762_CR13","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1755-8417-2-3","volume":"2","author":"A D'Angelo","year":"2009","unstructured":"D\u2019Angelo A, Franco B (2009) The dynamic cilium in human diseases. PathoGenetics 2:1\u201315","journal-title":"PathoGenetics"},{"issue":"16","key":"6762_CR14","doi-asserted-by":"publisher","first-page":"6531","DOI":"10.1074\/jbc.RA118.004867","volume":"294","author":"RA Denu","year":"2019","unstructured":"Denu RA, Sass MM, Johnson JM, Potts GK, Choudhary A, Coon JJ, Burkard ME (2019) Polo-like kinase 4 maintains centriolar satellite integrity by phosphorylation of centrosomal protein 131 (CEP131). J Biol Chem 294(16):6531\u20136549. https:\/\/doi.org\/10.1074\/jbc.RA118.004867","journal-title":"J Biol Chem"},{"issue":"15","key":"6762_CR15","doi-asserted-by":"publisher","first-page":"1320","DOI":"10.1016\/j.cub.2009.06.046","volume":"19","author":"S Endoh-Yamagami","year":"2009","unstructured":"Endoh-Yamagami S, Evangelista M, Wilson D, Wen X, Theunissen J-W, Phamluong K et al (2009) The mammalian Cos2 homolog Kif7 plays an essential role in modulating Hh signal transduction during development. Curr Biol 19(15):1320\u20131326","journal-title":"Curr Biol"},{"key":"6762_CR16","doi-asserted-by":"publisher","first-page":"1451","DOI":"10.1007\/s00467-014-2762-2","volume":"29","author":"H Fehrenbach","year":"2014","unstructured":"Fehrenbach H, Decker C, Eisenberger T, Frank V, Hampel T, Walden U et al (2014) Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies. Pediatr Nephrol 29:1451\u20131456","journal-title":"Pediatr Nephrol"},{"issue":"20","key":"6762_CR17","doi-asserted-by":"publisher","first-page":"12147","DOI":"10.3390\/ijms232012147","volume":"23","author":"F Finetti","year":"2022","unstructured":"Finetti F, Onnis A, Baldari CT (2022) IFT20: an eclectic regulator of cellular processes beyond intraflagellar transport. Int J Mol Sci 23(20):12147","journal-title":"Int J Mol Sci"},{"issue":"11","key":"6762_CR18","doi-asserted-by":"publisher","first-page":"880","DOI":"10.1038\/nrm2278","volume":"8","author":"M Fliegauf","year":"2007","unstructured":"Fliegauf M, Benzing T, Omran H (2007) When cilia go bad: cilia defects and ciliopathies. Nat Rev Mol Cell Biol 8(11):880\u2013893","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"1","key":"6762_CR19","doi-asserted-by":"publisher","first-page":"8","DOI":"10.1038\/ejhg.2012.115","volume":"21","author":"E Forsythe","year":"2013","unstructured":"Forsythe E, Beales PL (2013) Bardet-Biedl syndrome. Eur J Hum Genet 21(1):8\u201313. https:\/\/doi.org\/10.1038\/ejhg.2012.115","journal-title":"Eur J Hum Genet"},{"issue":"8","key":"6762_CR20","doi-asserted-by":"publisher","first-page":"776","DOI":"10.1038\/ng.891","volume":"43","author":"FR Garcia-Gonzalo","year":"2011","unstructured":"Garcia-Gonzalo FR, Corbit KC, Sirerol-Piquer MS, Ramaswami G, Otto EA, Noriega TR et al (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat Genet 43(8):776\u2013784","journal-title":"Nat Genet"},{"issue":"1","key":"6762_CR21","doi-asserted-by":"publisher","first-page":"20560","DOI":"10.1038\/s41598-020-76603-3","volume":"10","author":"J Goedhart","year":"2020","unstructured":"Goedhart J, Luijsterburg MS (2020) VolcaNoseR is a web app for creating, exploring, labeling and sharing volcano plots. Sci Rep 10(1):20560","journal-title":"Sci Rep"},{"issue":"12","key":"6762_CR22","doi-asserted-by":"publisher","first-page":"e1003928","DOI":"10.1371\/journal.pgen.1003928","volume":"9","author":"EA Hall","year":"2013","unstructured":"Hall EA, Keighren M, Ford MJ, Davey T, Jarman AP, Smith LB et al (2013) Acute versus chronic loss of mammalian Azi1\/Cep131 results in distinct ciliary phenotypes. PLoS Genet 9(12):e1003928","journal-title":"PLoS Genet"},{"issue":"10","key":"6762_CR23","doi-asserted-by":"publisher","first-page":"657","DOI":"10.1136\/jmg.2007.052027","volume":"44","author":"J Helou","year":"2007","unstructured":"Helou J, Otto EA, Attanasio M, Allen SJ, Parisi MA, Glass I et al (2007) Mutation analysis of NPHP6\/CEP290 in patients with Joubert syndrome and Senior\u2013L\u00f8ken syndrome. J Med Genet 44(10):657\u2013663","journal-title":"J Med Genet"},{"issue":"16","key":"6762_CR24","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1056\/NEJMra1010172","volume":"364","author":"F Hildebrandt","year":"2011","unstructured":"Hildebrandt F, Benzing T, Katsanis N (2011) Ciliopathies. N Engl J Med 364(16):1533\u20131543","journal-title":"N Engl J Med"},{"issue":"7","key":"6762_CR25","doi-asserted-by":"publisher","first-page":"3792","DOI":"10.1167\/iovs.09-4312","volume":"51","author":"LM Hudak","year":"2010","unstructured":"Hudak LM, Lunt S, Chang C-H, Winkler E, Flammer H, Lindsey M et al (2010) The intraflagellar transport protein ift80 is essential for photoreceptor survival in a zebrafish model of jeune asphyxiating thoracic dystrophy. Investig Ophthalmol vis Sci 51(7):3792\u20133799","journal-title":"Investig Ophthalmol vis Sci"},{"issue":"1","key":"6762_CR26","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1016\/j.gene.2012.10.074","volume":"513","author":"PTT Huong","year":"2013","unstructured":"Huong PTT, Soung NK, Jang JH, Cha-Molstad HJ, Sakchaisri K, Kim SO et al (2013) Regulation of CEP131 gene expression by SP1. Gene 513(1):75\u201381","journal-title":"Gene"},{"issue":"11","key":"6762_CR27","doi-asserted-by":"publisher","first-page":"2178","DOI":"10.1002\/cbin.11667","volume":"45","author":"RO Jayarajan","year":"2021","unstructured":"Jayarajan RO, Chakraborty S, Kateriya S, Veleri S (2021) Centriole is the pivot co-ordinating dynamic signaling for cell proliferation and organization during early development in the vertebrates. Cell Biol Int 45(11):2178\u20132197","journal-title":"Cell Biol Int"},{"issue":"3","key":"6762_CR28","doi-asserted-by":"publisher","first-page":"758","DOI":"10.3390\/ijms21030758","volume":"21","author":"K-S Jeng","year":"2020","unstructured":"Jeng K-S, Chang C-F, Lin S-S (2020) Sonic hedgehog signaling in organogenesis, tumors, and tumor microenvironments. Int J Mol Sci 21(3):758","journal-title":"Int J Mol Sci"},{"issue":"12","key":"6762_CR29","doi-asserted-by":"publisher","first-page":"954","DOI":"10.1016\/j.tcb.2021.07.009","volume":"31","author":"K Kasahara","year":"2021","unstructured":"Kasahara K, Inagaki M (2021) Primary ciliary signaling: links with the cell cycle. Trends Cell Biol 31(12):954\u2013964","journal-title":"Trends Cell Biol"},{"key":"6762_CR30","doi-asserted-by":"publisher","first-page":"291","DOI":"10.1007\/978-1-60761-987-1_18","volume":"696","author":"M Kohl","year":"2011","unstructured":"Kohl M, Wiese S, Warscheid B (2011) Cytoscape: software for visualization and analysis of biological networks. Methods Mol Biol 696:291\u2013303. https:\/\/doi.org\/10.1007\/978-1-60761-987-1_18","journal-title":"Methods Mol Biol"},{"issue":"1","key":"6762_CR31","doi-asserted-by":"publisher","first-page":"74","DOI":"10.2144\/04361ST02","volume":"36","author":"S Kojima","year":"2004","unstructured":"Kojima S, Vignjevic D, Borisy GG (2004) Improved silencing vector co-expressing GFP and small hairpin RNA. Biotechniques 36(1):74\u201379. https:\/\/doi.org\/10.2144\/04361ST02","journal-title":"Biotechniques"},{"issue":"1","key":"6762_CR32","doi-asserted-by":"publisher","first-page":"122","DOI":"10.1038\/ncb3273","volume":"18","author":"NJ Lambacher","year":"2016","unstructured":"Lambacher NJ, Bruel A-L, Van Dam TJ, Szyma\u0144ska K, Slaats GG, Kuhns S et al (2016) TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat Cell Biol 18(1):122\u2013131","journal-title":"Nat Cell Biol"},{"issue":"8","key":"6762_CR33","first-page":"4423","volume":"130","author":"BL Latour","year":"2020","unstructured":"Latour BL, Van De Weghe JC, Rusterholz TD, Letteboer SJ, Gomez A, Shaheen R et al (2020) Dysfunction of the ciliary ARMC9\/TOGARAM1 protein module causes Joubert syndrome. J Clin Investig 130(8):4423\u20134439","journal-title":"J Clin Investig"},{"issue":"10","key":"6762_CR34","doi-asserted-by":"publisher","first-page":"1970","DOI":"10.1110\/ps.10101","volume":"10","author":"J Liu","year":"2001","unstructured":"Liu J, Rost BJPS (2001) Comparing function and structure between entire proteomes. Protein Sci 10(10):1970\u20131979","journal-title":"Protein Sci"},{"issue":"1","key":"6762_CR35","doi-asserted-by":"publisher","first-page":"1282","DOI":"10.1038\/s41467-022-28982-6","volume":"13","author":"M Masek","year":"2022","unstructured":"Masek M, Etard C, Hofmann C, Hulsmeier AJ, Zang J, Takamiya M et al (2022) Loss of the Bardet-Biedl protein Bbs1 alters photoreceptor outer segment protein and lipid composition. Nat Commun 13(1):1282. https:\/\/doi.org\/10.1038\/s41467-022-28982-6","journal-title":"Nat Commun"},{"issue":"4","key":"6762_CR36","doi-asserted-by":"publisher","first-page":"542","DOI":"10.1016\/j.ajhg.2009.03.015","volume":"84","author":"AE Merrill","year":"2009","unstructured":"Merrill AE, Merriman B, Farrington-Rock C, Camacho N, Sebald ET, Funari VA et al (2009) Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome. Am J Hum Genet 84(4):542\u2013549","journal-title":"Am J Hum Genet"},{"issue":"3","key":"6762_CR37","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1038\/nrn.2016.183","volume":"18","author":"P Monteiro","year":"2017","unstructured":"Monteiro P, Feng G (2017) SHANK proteins: roles at the synapse and in autism spectrum disorder. Nat Rev Neurosci 18(3):147\u2013157","journal-title":"Nat Rev Neurosci"},{"issue":"3","key":"6762_CR80","doi-asserted-by":"publisher","first-page":"569","DOI":"10.1016\/S0896-6273(00)80809-0","volume":"23","author":"S Naisbitt","year":"1999","unstructured":"Naisbitt S, Kim E, Tu JC, Xiao B, Sala C et al (1999) Shank, a novel family of postsynaptic density proteins that binds to the NMDA receptor\/PSD-95\/GKAP complex and cortactin. Neuron 23(3):569\u2013582","journal-title":"Neuron"},{"issue":"6","key":"6762_CR38","doi-asserted-by":"publisher","first-page":"1167","DOI":"10.1016\/j.devcel.2012.10.016","volume":"23","author":"S Niwa","year":"2012","unstructured":"Niwa S, Nakajima K, Miki H, Minato Y, Wang D, Hirokawa N (2012) KIF19A is a microtubule-depolymerizing kinesin for ciliary length control. Dev Cell 23(6):1167\u20131175","journal-title":"Dev Cell"},{"issue":"4","key":"6762_CR39","doi-asserted-by":"publisher","first-page":"1011","DOI":"10.1016\/j.ajhg.2008.01.021","volume":"82","author":"A Noor","year":"2008","unstructured":"Noor A, Windpassinger C, Patel M, Stachowiak B, Mikhailov A, Azam M et al (2008) CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. Am J Hum Genet 82(4):1011\u20131018","journal-title":"Am J Hum Genet"},{"issue":"3","key":"6762_CR40","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0195005","volume":"13","author":"S Nozaki","year":"2018","unstructured":"Nozaki S, Katoh Y, Kobayashi T, Nakayama K (2018) BBS1 is involved in retrograde trafficking of ciliary GPCRs in the context of the BBSome complex. PLoS ONE 13(3):e0195005. https:\/\/doi.org\/10.1371\/journal.pone.0195005","journal-title":"PLoS ONE"},{"issue":"1","key":"6762_CR41","doi-asserted-by":"publisher","first-page":"18883","DOI":"10.1038\/s41598-020-75957-y","volume":"10","author":"Y Okitsu","year":"2020","unstructured":"Okitsu Y, Nagano M, Yamagata T, Ito C, Toshimori K, Dohra H et al (2020) Dlec1 is required for spermatogenesis and male fertility in mice. Sci Rep 10(1):18883","journal-title":"Sci Rep"},{"issue":"7","key":"6762_CR42","doi-asserted-by":"publisher","first-page":"1255","DOI":"10.1016\/j.cell.2007.06.018","volume":"129","author":"J Pan","year":"2007","unstructured":"Pan J, Snell W (2007) The primary cilium: keeper of the key to cell division. Cell 129(7):1255\u20131257. https:\/\/doi.org\/10.1016\/j.cell.2007.06.018","journal-title":"Cell"},{"issue":"42","key":"6762_CR43","doi-asserted-by":"publisher","first-page":"14279","DOI":"10.1074\/jbc.RA120.013905","volume":"295","author":"A Prasai","year":"2020","unstructured":"Prasai A, Cernohorska MS, Ruppova K, Niederlova V, Andelova M, Draber P et al (2020) The BBSome assembly is spatially controlled by BBS1 and BBS4 in human cells. J Biol Chem 295(42):14279\u201314290","journal-title":"J Biol Chem"},{"issue":"7","key":"6762_CR44","doi-asserted-by":"publisher","first-page":"1351","DOI":"10.1016\/j.cell.2007.04.035","volume":"129","author":"EN Pugacheva","year":"2007","unstructured":"Pugacheva EN, Jablonski SA, Hartman TR, Henske EP, Golemis EA (2007) HEF1-dependent Aurora A activation induces disassembly of the primary cilium. Cell 129(7):1351\u20131363. https:\/\/doi.org\/10.1016\/j.cell.2007.04.035","journal-title":"Cell"},{"issue":"3","key":"6762_CR45","first-page":"95","volume":"8","author":"L Qiu","year":"2016","unstructured":"Qiu L, LeBel RP, Storm DR, Chen X (2016) Type 3 adenylyl cyclase: a key enzyme mediating the cAMP signaling in neuronal cilia. Int J Physiol Pathophysiol Pharmacol 8(3):95","journal-title":"Int J Physiol Pathophysiol Pharmacol"},{"issue":"11","key":"6762_CR46","doi-asserted-by":"publisher","DOI":"10.5812\/hepatmon.29829","volume":"15","author":"GH Qiu","year":"2015","unstructured":"Qiu GH, Xie X, Deng L, Hooi SC (2015) Tumor suppressor DLEC1 can stimulate the proliferation of cancer cells when AP-2\u02512 is down-Regulated in HCT116. Hepat Monthly 15(11):e29829. https:\/\/doi.org\/10.5812\/hepatmon.29829","journal-title":"Hepat Monthly"},{"issue":"2","key":"6762_CR47","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1016\/j.molcel.2018.08.034","volume":"72","author":"DR Raleigh","year":"2018","unstructured":"Raleigh DR, Sever N, Choksi PK, Sigg MA, Hines KM, Thompson BM et al (2018) Cilia-associated oxysterols activate smoothened. Mol Cell 72(2):316\u2013327","journal-title":"Mol Cell"},{"issue":"9","key":"6762_CR48","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1038\/nrm.2017.60","volume":"18","author":"JF Reiter","year":"2017","unstructured":"Reiter JF, Leroux MR (2017) Genes and molecular pathways underpinning ciliopathies. Nat Rev Mol Cell Biol 18(9):533\u2013547","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"7","key":"6762_CR49","doi-asserted-by":"publisher","first-page":"608","DOI":"10.1038\/embor.2012.73","volume":"13","author":"JF Reiter","year":"2012","unstructured":"Reiter JF, Blacque OE, Leroux MR (2012) The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and compartmentalization. EMBO Rep 13(7):608\u2013618","journal-title":"EMBO Rep"},{"issue":"26","key":"6762_CR50","doi-asserted-by":"publisher","first-page":"15879","DOI":"10.1074\/jbc.273.26.15879","volume":"273","author":"J Rizo","year":"1998","unstructured":"Rizo J, Sudhof TC (1998) C2-domains, structure and function of a universal Ca2+-binding domain. J Biol Chem 273(26):15879\u201315882","journal-title":"J Biol Chem"},{"issue":"17","key":"6762_CR51","doi-asserted-by":"publisher","first-page":"2988","DOI":"10.1002\/anie.200904943","volume":"49","author":"H Robson Marsden","year":"2010","unstructured":"Robson Marsden H, Kros AJACIE (2010) Self-assembly of coiled coils in synthetic biology: inspiration and progress. Angewandte Chemie Int Edn 49(17):2988\u20133005","journal-title":"Angewandte Chemie Int Edn"},{"issue":"11","key":"6762_CR52","doi-asserted-by":"publisher","first-page":"813","DOI":"10.1038\/nrm952","volume":"3","author":"JL Rosenbaum","year":"2002","unstructured":"Rosenbaum JL, Witman GB (2002) Intraflagellar transport. Nat Rev Mol Cell Biol 3(11):813\u2013825","journal-title":"Nat Rev Mol Cell Biol"},{"issue":"2","key":"6762_CR53","doi-asserted-by":"publisher","first-page":"175","DOI":"10.1038\/s41588-017-0023-6","volume":"50","author":"S Saeed","year":"2018","unstructured":"Saeed S, Bonnefond A, Tamanini F, Mirza MU, Manzoor J, Janjua QM et al (2018) Loss-of-function mutations in ADCY3 cause monogenic severe obesity. Nat Genet 50(2):175\u2013179","journal-title":"Nat Genet"},{"issue":"6","key":"6762_CR54","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1136\/jmg.35.6.497","volume":"35","author":"R Salonen","year":"1998","unstructured":"Salonen R, Paavola P (1998) Meckel syndrome. J Med Genet 35(6):497\u2013501","journal-title":"J Med Genet"},{"key":"6762_CR55","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2021.607121","volume":"9","author":"S Schneider","year":"2021","unstructured":"Schneider S, De Cegli R, Nagarajan J, Kretschmer V, Matthiessen PA, Intartaglia D et al (2021) Loss of ciliary gene Bbs8 results in physiological defects in the retinal pigment epithelium. Front Cell Dev Biol 9:607121","journal-title":"Front Cell Dev Biol"},{"issue":"11","key":"6762_CR56","doi-asserted-by":"publisher","first-page":"2498","DOI":"10.1101\/gr.1239303","volume":"13","author":"P Shannon","year":"2003","unstructured":"Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, Ramage D et al (2003) Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res 13(11):2498\u20132504","journal-title":"Genome Res"},{"issue":"10","key":"6762_CR57","doi-asserted-by":"publisher","first-page":"1178","DOI":"10.1038\/ncb3599","volume":"19","author":"X Shi","year":"2017","unstructured":"Shi X, Garcia G III, Van De Weghe JC, McGorty R, Pazour GJ, Doherty D et al (2017) Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes joubert syndrome. Nat Cell Biol 19(10):1178\u20131188","journal-title":"Nat Cell Biol"},{"issue":"2","key":"6762_CR58","doi-asserted-by":"publisher","first-page":"1641","DOI":"10.1074\/jbc.M407305200","volume":"280","author":"O-H Shin","year":"2005","unstructured":"Shin O-H, Han W, Wang Y, S\u00fcdhof TC (2005) Evolutionarily conserved multiple C2 domain proteins with two transmembrane regions (MCTPs) and unusual Ca2+ binding properties. J Biol Chem 280(2):1641\u20131651","journal-title":"J Biol Chem"},{"issue":"2","key":"6762_CR59","doi-asserted-by":"publisher","first-page":"155","DOI":"10.1002\/humu.22925","volume":"37","author":"NA Shylo","year":"2016","unstructured":"Shylo NA, Christopher KJ, Iglesias A, Daluiski A, Weatherbee SD (2016) TMEM107 is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome. Hum Mutation 37(2):155\u2013159","journal-title":"Hum Mutation"},{"issue":"D1","key":"6762_CR60","doi-asserted-by":"publisher","first-page":"D605","DOI":"10.1093\/nar\/gkaa1074","volume":"49","author":"D Szklarczyk","year":"2021","unstructured":"Szklarczyk D, Gable AL, Nastou KC, Lyon D, Kirsch R, Pyysalo S et al (2021) The STRING database in 2021: customizable protein\u2013protein networks, and functional characterization of user-uploaded gene\/measurement sets. Nucleic Acids Res 49(D1):D605\u2013D612","journal-title":"Nucleic Acids Res"},{"issue":"6","key":"6762_CR61","doi-asserted-by":"publisher","first-page":"1361","DOI":"10.1016\/j.ajhg.2008.05.004","volume":"82","author":"J Tallila","year":"2008","unstructured":"Tallila J, Jakkula E, Peltonen L, Salonen R, Kestil\u00e4 M (2008) Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet 82(6):1361\u20131367","journal-title":"Am J Hum Genet"},{"key":"6762_CR62","unstructured":"Tan W, Lin A, Keppler-Noreuil K (2021) Cranioectodermal dysplasia"},{"issue":"1","key":"6762_CR63","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1007\/s00441-011-1192-8","volume":"345","author":"E Tasouri","year":"2011","unstructured":"Tasouri E, Tucker KL (2011) Primary cilia and organogenesis: is Hedgehog the only sculptor? Cell Tissue Res 345(1):21\u201340","journal-title":"Cell Tissue Res"},{"issue":"9","key":"6762_CR64","doi-asserted-by":"publisher","first-page":"903","DOI":"10.1002\/bies.201600062","volume":"38","author":"L Truebestein","year":"2016","unstructured":"Truebestein L, Leonard TA (2016) Coiled-coils: the long and short of it. BioEssays 38(9):903\u2013916","journal-title":"BioEssays"},{"issue":"1","key":"6762_CR65","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1038\/nrneurol.2013.247","volume":"10","author":"EM Valente","year":"2014","unstructured":"Valente EM, Rosti RO, Gibbs E, Gleeson JG (2014) Primary cilia in neurodevelopmental disorders. Nat Rev Neurol 10(1):27\u201336","journal-title":"Nat Rev Neurol"},{"issue":"1","key":"6762_CR66","doi-asserted-by":"publisher","first-page":"4207","DOI":"10.1038\/ncomms5207","volume":"5","author":"S Veleri","year":"2014","unstructured":"Veleri S, Manjunath SH, Fariss RN, May-Simera H, Brooks M, Foskett TA et al (2014) Ciliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesis. Nat Commun 5(1):4207","journal-title":"Nat Commun"},{"key":"6762_CR67","doi-asserted-by":"publisher","first-page":"29","DOI":"10.1007\/978-3-7091-0932-8_2","volume":"29\u201361","author":"C Verpelli","year":"2012","unstructured":"Verpelli C, Schmeisser MJ, Sala C, Boeckers TM (2012) Scaffold proteins at the postsynaptic density. Synaptic Plasticity Dyn Dev Dis 29\u201361. https:\/\/doi.org\/10.1007\/978-3-7091-0932-8_2. PMID: 22351050","journal-title":"Synaptic Plasticity Dyn Dev Dis"},{"key":"6762_CR68","doi-asserted-by":"publisher","first-page":"e18101","DOI":"10.7554\/eLife.18101","volume":"5","author":"D Wang","year":"2016","unstructured":"Wang D, Nitta R, Morikawa M, Yajima H, Inoue S, Shigematsu H et al (2016) Motility and microtubule depolymerization mechanisms of the Kinesin-8 motor, KIF19A. Elife 5:e18101","journal-title":"Elife"},{"key":"6762_CR69","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/1471-2121-10-17","volume":"10","author":"CJ Wilkinson","year":"2009","unstructured":"Wilkinson CJ, Carl M, Harris WA (2009) Cep70 and Cep131 contribute to ciliogenesis in zebrafish embryos. BMC Cell Biol 10:1\u201314","journal-title":"BMC Cell Biol"},{"issue":"6","key":"6762_CR70","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1083\/jcb.201012116","volume":"192","author":"CL Williams","year":"2011","unstructured":"Williams CL, Li C, Kida K, Inglis PN, Mohan S, Semenec L et al (2011) MKS and NPHP modules cooperate to establish basal body\/transition zone membrane associations and ciliary gate function during ciliogenesis. J Cell Biol 192(6):1023\u20131041","journal-title":"J Cell Biol"},{"issue":"24","key":"6762_CR72","doi-asserted-by":"publisher","first-page":"2463","DOI":"10.1016\/j.cub.2013.10.044","volume":"23","author":"KN Wren","year":"2013","unstructured":"Wren KN, Craft JM, Tritschler D, Schauer A, Patel DK, Smith EF et al (2013) A differential cargo-loading model of ciliary length regulation by IFT. Curr Biol 23(24):2463\u20132471","journal-title":"Curr Biol"},{"issue":"3","key":"6762_CR73","first-page":"100141","volume":"2","author":"T Wu","year":"2021","unstructured":"Wu T, Hu E, Xu S, Chen M, Guo P, Dai Z et al (2021) clusterProfiler 4.0: a universal enrichment tool for interpreting omics data. Innov 2(3):100141","journal-title":"Innov"},{"key":"6762_CR74","doi-asserted-by":"publisher","first-page":"e57381","DOI":"10.7554\/eLife.57381","volume":"9","author":"S Yoshida","year":"2020","unstructured":"Yoshida S, Aoki K, Fujiwara K, Nakakura T, Kawamura A, Yamada K et al (2020) The novel ciliogenesis regulator DYRK2 governs Hedgehog signaling during mouse embryogenesis. Elife 9:e57381","journal-title":"Elife"},{"issue":"5","key":"6762_CR75","doi-asserted-by":"publisher","first-page":"284","DOI":"10.1089\/omi.2011.0118","volume":"16","author":"G Yu","year":"2012","unstructured":"Yu G, Wang L-G, Han Y, He Q-Y (2012) clusterProfiler: an R package for comparing biological themes among gene clusters. Omics A J Integr Biol 16(5):284\u2013287","journal-title":"Omics A J Integr Biol"},{"issue":"1","key":"6762_CR76","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1002\/path.5863","volume":"257","author":"SS Yu","year":"2022","unstructured":"Yu SS, Wang E, Chiang CY, Cheng PH, Yeh YS, Wu YY et al (2022) Large deletion of Wdr19 in developing renal tubules disrupts primary ciliogenesis, leading to polycystic kidney disease in mice. J Pathol 257(1):5\u201316","journal-title":"J Pathol"},{"issue":"4","key":"6762_CR77","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1038\/nn.4524","volume":"20","author":"RK Yuen","year":"2017","unstructured":"Yuen RK, Merico D, Bookman M, Howe L, Thiruvahindrapuram B Patel RV et al (2017) Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder. Nat Neurosci 20(4):602\u2013611","journal-title":"Nat Neurosci"},{"issue":"1","key":"6762_CR78","doi-asserted-by":"publisher","first-page":"1523","DOI":"10.1038\/s41467-019-09234-6","volume":"10","author":"Y Zhou","year":"2019","unstructured":"Zhou Y, Zhou B, Pache L, Chang M, Khodabakhshi AH, Tanaseichuk O et al (2019) Metascape provides a biologist-oriented resource for the analysis of systems-level datasets. Nat Commun 10(1):1523","journal-title":"Nat Commun"},{"issue":"8","key":"6762_CR79","doi-asserted-by":"publisher","first-page":"1343","DOI":"10.1093\/hmg\/ddl054","volume":"15","author":"P-P Zhu","year":"2006","unstructured":"Zhu P-P, Soderblom C, Tao-Cheng J-H, Stadler J, Blackstone CJH (2006) SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum Mol Genet 15(8):1343\u20131353","journal-title":"Hum Mol Genet"}],"container-title":["Experimental Brain Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00221-023-06762-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00221-023-06762-y\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00221-023-06762-y.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T18:03:47Z","timestamp":1709143427000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00221-023-06762-y"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,17]]},"references-count":79,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["6762"],"URL":"https:\/\/doi.org\/10.1007\/s00221-023-06762-y","relation":{},"ISSN":["0014-4819","1432-1106"],"issn-type":[{"value":"0014-4819","type":"print"},{"value":"1432-1106","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,1,17]]},"assertion":[{"value":"28 September 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 December 2023","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 January 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that there is no conflict of interest.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}