Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

Lee, Ji E; Gleeson, Joseph G

doi:10.1097/wco.0b013e3283444d05

Cited by 185Genetic and Kidney Cyst DiseasesCystic Fibrosis Research AdvancesFetal and Pediatric Neurological Disorders

Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

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Lee, Ji E, Gleeson, Joseph G·2011·Current Opinion in Neurology

DOI 10.1097/wco.0b013e3283444d05PMC PMC3984876

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Abstract

PURPOSE OF REVIEW: Ciliopathies are genetic disorders caused by defects of primary ciliary structure and/or function and are characterized by pleiotropic clinical features. The ciliopathies include several partially overlapping syndromes such as Joubert syndrome, Bardet-Biedl syndrome and Meckel-Gruber syndrome, all of which have pronounced neurodevelopmental features. Here we focus on potential roles of cilia in central nervous system function, to explore how impairments may cause brain malformation and neurodevelopmental disease. RECENT FINDINGS: Cilia have long been considered as 'sensory cellular antennae', responding as chemo-sensors, mechano-sensors and thermo-sensors, although their roles in development were not well understood until recently. The surprising finding that disparate syndromes are all due to defects of the primary cilia, along with the recent advances in genetics, has helped elucidate further roles of primary cilia beyond sensory functions. Several molecules that are associated with key signaling pathways have been discovered in primary cilia. These include sonic hedgehog, wingless, planar cell polarity and fibroblast growth factor, which are essential for many cellular processes. Additionally, mutations in 'ciliome' genes have largely shown developmental defects such as abnormal body axis and brain malformation, implying disrupted cilia-related signaling pathways. Accordingly, the emerging theme is that primary cilia may play roles as modulators of signal transduction to help shape cellular responses within the environmental context during both development and homeostasis. SUMMARY: The link between cilia and signal pathways has become a framework for understanding the pathogenesis of ciliopathies. Despite recent progress in ciliary biology, fundamental questions remain about how cilia regulate neuronal function in the central nervous system. Therefore, investigation of ciliary function in the nervous system may reveal cilia-modulating mechanisms in neurodevelopmental processes, as well as suggest new treatments for disease.

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All ciliopathies share one phenotype, cognitive impairment.
“All ciliopathies share one phenotype, cognitive impairment [37–42].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [41]
The Characteristics of ciliopathies section (page not provided) says many ciliopathy syndromes have neurological features, most commonly intellectual impairment. It does not say cognitive impairment occurs in all ciliopathies; the Introduction also emphasizes variability in their clinical presentation. (LLM, conf=0.88)
Experimental — accuracy not yet measured
Impaired Shh signaling results in similar phenotypes as those observed in patients with disrupted cilia structure or function.
“Impaired Shh signaling results in similar phenotypes as those observed in patients with disrupted cilia structure or function [37–42].”
From Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure (2018) · cites this paper as [41]
In “The primary cilia in brain development” (page not provided), the review links Shh-dependent cerebellar development to cerebellar hypoplasia in ciliopathies and reports cerebellar defects after disruption of ciliary or Shh-pathway genes. The overlap is supported, but the direct comparison of impaired-Shh phenotypes with those observed in patients goes beyond the experimental findings described. (LLM, conf=0.83)
Experimental — accuracy not yet measured
Several monogenic causes of ASD, including TSC and Joubert Syndrome, show abnormal axon path finding or migration abnormalities known to lead to altered brain structural connectivity.
“Indeed several of the monogenic causes of ASD, including TSC [56] and Joubert Syndrome [57, 58] show manifestations of abnormal axon path finding or migration abnormalities that are known to lead to alterations in brain structural connectivity.”
From Genetics of autism spectrum disorders (2011) · cites this paper as [58]

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Pazour, G. J., Dickert, B. L., Vucica, Y., Seeley, E. S., Rosenbaum, J. L., Witman, G. B., & Cole, D. G. (2000) · The Journal of Cell Biology · doi:10.1083/jcb.151.3.709 · Cited by 1,147 · see citing works
Migration and distribution of two populations of hippocampal granule cell precursors during the perinatal and postnatal periods
Altman, J., & Bayer, S. A. (1990) · Journal of Comparative Neurology · doi:10.1002/cne.903010304 · Cited by 819 · see citing works
New Neurons Follow the Flow of Cerebrospinal Fluid in the Adult Brain
Sawamoto, K., Wichterle, H., González-Pérez, Ó., Cholfin, J. A., Yamada, M., Spassky, N., Murcia, N. S., García‐Verdugo, J. M., Marín, Ó., Rubenstein, J. L. R., et al. (2006) · Science · doi:10.1126/science.1119133 · Cited by 803 · see citing works
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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
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Caspary, T., Larkins, C. E., & Anderson, K. V. (2007) · Developmental Cell · doi:10.1016/j.devcel.2007.03.004 · Cited by 729 · see citing works
Post-translational modifications regulate microtubule function
Westermann, S., & Weber, K. K. (2003) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1260 · Cited by 716 · see citing works
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Ross, A. J., May‐Simera, H., Eichers, E. R., Kai, M., Hill, J. E., Jagger, D. J., Leitch, C. C., Chapple, J. P., Munro, P., Fisher, S., et al. (2005) · Nature Genetics · doi:10.1038/ng1644 · Cited by 595 · see citing works
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Verhey, K. J., & Gaertig, J. (2007) · Cell Cycle · doi:10.4161/cc.6.17.4633 · Cited by 558 · see citing works
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Han, Y.-G., Spassky, N., Romaguera-Ros, M., Garcia-Verdugo, J.-M., Aguilar, A., Schneider-Maunoury, S., & Alvarez-Buylla, A. (2008) · Nature Neuroscience · doi:10.1038/nn2059 · Cited by 547 · see citing works
Tubulin modifications and their cellular functions
Hammond, J. W., Cai, D., & Verhey, K. J. (2008) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2007.11.010 · Cited by 509 · see citing works
The primary cilium at a glance
Satir, P., Pedersen, L. B., & Christensen, S. T. (2010) · Journal of Cell Science · doi:10.1242/jcs.050377 · Cited by 502 · see citing works
Disruption of Intraflagellar Transport in Adult Mice Leads to Obesity and Slow-Onset Cystic Kidney Disease
Davenport, J. R., Watts, A. J., Roper, V. C., Croyle, M. J., van Groen, T., Wyss, J. M., Nagy, T. R., Kesterson, R. A., & Yoder, B. K. (2007) · Current Biology · doi:10.1016/j.cub.2007.08.034 · Cited by 482 · 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
Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure
Hamblet, N. S., Lijam, N., Ruiz‐Lozano, P., Wang, J., Yang, Y., Luo, Z., Mei, L., Chien, K. R., Sussman, D. J., & Wynshaw-Boris, A. J. (2002) · Development · doi:10.1242/dev.00164 · Cited by 438 · see citing works
Coupling between hydrodynamic forces and planar cell polarity orients mammalian motile cilia
Guirao, B., Meunier, A., Mortaud, S., Aguilar, A., Corsi, J.-M., Strehl, L., Hirota, Y., Desoeuvre, A., Boutin, C., Han, Y.-G., et al. (2010) · Nature Cell Biology · doi:10.1038/ncb2040 · Cited by 418 · see citing works
A Family of Protein-Deglutamylating Enzymes Associated with Neurodegeneration
Rogowski, K., van Dijk, J., Magiera, M. M., Bosc, C., Deloulme, J., Bosson, A., Peris, L., Gold, N. D., Lacroix, B., Bosch, M., et al. (2010) · Cell · doi:10.1016/j.cell.2010.10.014 · Cited by 397 · see citing works
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al‐Gazali, L., Sztriha, L., Bayoumi, R., Zaki, M. S., Aleem, A. K. A., Rosti, R. Ö., et al. (2009) · Nature Genetics · doi:10.1038/ng.423 · Cited by 397 · see citing works
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Mutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S., Bertrand, J. Y., Audollent, S., Attié‐Bitach, T., Holden, K. R., Dobyns, W. B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.023 · Cited by 391 · see citing works
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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
Selective targeting of somatostatin receptor 3 to neuronal cilia
Händel, M., Schulz, S., Stanarius, A., Schreff, M., Erdtmann-Vourliotis, M., Schmidt, H., Wolf, G. L., & Höllt, V. (1999) · Neuroscience · doi:10.1016/s0306-4522(98)00354-6 · Cited by 380 · see citing works
Nephronophthisis
Hildebrandt, F., Attanasio, M., & Otto, E. A. (2008) · Journal of the American Society of Nephrology · doi:10.1681/asn.2008050456 · Cited by 373 · see citing works
Dysfunction of axonemal dynein heavy chain Mdnah5 inhibits ependymal flow and reveals a novel mechanism for hydrocephalus formation
Ibáñez-Tallon, I., Pagenstecher, A., Fliegauf, M., Olbrich, H., Kispert, A., Ketelsen, U., North, A. J., Heintz, N., & Omran, H. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh219 · Cited by 370 · see citing works
Polycystin-1, STAT6, and P100 Function in a Pathway that Transduces Ciliary Mechanosensation and Is Activated in Polycystic Kidney Disease
Low, S. H., Vasanth, S., Larson, C. H., Mukherjee, S., Sharma, N., Kinter, M. T., Kane, M. E., Obara, T., & Weimbs, T. (2006) · Developmental Cell · doi:10.1016/j.devcel.2005.12.005 · Cited by 364 · see citing works
Dysfunctional cilia lead to altered ependyma and choroid plexus function,and result in the formation of hydrocephalus
Banizs, B., Pike, M. M., Millican, C. L., Ferguson, W. B., Komlosi, P., Sheetz, J., Bell, P. D., Schwiebert, E. M., & Yoder, B. K. (2005) · Development · doi:10.1242/dev.02153 · Cited by 349 · see citing works
Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling
Breunig, J. J., Sarkisian, M. R., Arellano, J. I., Morozov, Y. M., Ayoub, A. E., Sojitra, S., Wang, B., Flavell, R. A., Rakic, P., & Town, T. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0804558105 · Cited by 344 · see citing works
INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse
Jacoby, M., Cox, J. J., Gayral, S., Hampshire, D. J., Ayub, M., Blockmans, M., Pernot, E., Kisseleva, M. V., Compère, P., Schiffmann, S. N., et al. (2009) · Nature Genetics · doi:10.1038/ng.427 · Cited by 339 · see citing works
Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification
Ferrante, M. I., Zullo, A., Barra, A., Bimonte, S., Messaddeq, N., Studer, M., Dollé, P., & Franco, B. (2005) · Nature Genetics · doi:10.1038/ng1684 · Cited by 338 · see citing works
THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia
Tran, P. V., Haycraft, C. J., Besschetnova, T. Y., Turbé-Doan, A., Stottmann, R. W., Herron, B. J., Chesebro, A. L., Qiu, H., Scherz, P., Shah, J. V., et al. (2008) · Nature Genetics · doi:10.1038/ng.105 · Cited by 337 · see citing works
Lack of cadherins Celsr2 and Celsr3 impairs ependymal ciliogenesis, leading to fatal hydrocephalus
Tissir, F., Qu, Y., Montcouquiol, M., Zhou, L., Komatsu, K., Shi, D., Fujimori, T., Labeau, J., Tyteca, D., Courtoy, P. J., et al. (2010) · Nature Neuroscience · doi:10.1038/nn.2555 · Cited by 333 · see citing works
The ependyma: A protective barrier between brain and cerebrospinal fluid
Bigio, M. R. D. (1995) · Glia · doi:10.1002/glia.440140102 · Cited by 322 · see citing works
A Targeted Multienzyme Mechanism for Selective Microtubule Polyglutamylation
van Dijk, J., Rogowski, K., Miro, J., Lacroix, B., Eddé, B., & Janke, C. (2007) · Molecular Cell · doi:10.1016/j.molcel.2007.04.012 · Cited by 320 · see citing works
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
Spassky, N., Han, Y.-G., Aguilar, A., Strehl, L., Besse, L., Laclef, C., Romaguera Ros, M., Garcia-Verdugo, J. M., & Alvarez-Buylla, A. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.02.026 · Cited by 314 · see citing works
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Valente, E. M., Logan, C. V., Mougou-Zerelli, S., Lee, J. H., Silhavy, J. L., Brancati, F., Iannicelli, M., Travaglini, L., Romani, S., Illi, B., et al. (2010) · Nature Genetics · doi:10.1038/ng.594 · Cited by 287 · see citing works
Self-citation
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus
Stoetzel, C., Laurier, V., Davis, E. E., Muller, J., Rix, S., Badano, J. L., Leitch, C. C., Salem, N., Chouery, É., Corbani, S., et al. (2006) · Nature Genetics · doi:10.1038/ng1771 · Cited by 285 · see citing works
Mutations in Hydin impair ciliary motility in mice
Lechtreck, K. F., Delmotte, P. F., Robinson, M. L., Sanderson, M. J., & Witman, G. B. (2008) · The Journal of Cell Biology · doi:10.1083/jcb.200710162 · Cited by 278 · see citing works
Cilia Organize Ependymal Planar Polarity
Mirzadeh, Z., Han, Y.-G., Soriano‐Navarro, M., García‐Verdugo, J. M., & Álvarez-Buylla, A. (2010) · Journal of Neuroscience · doi:10.1523/jneurosci.3744-09.2010 · Cited by 271 · see citing works
Clinical and molecular features of Joubert syndrome and related disorders
Parisi, M. A. (2009) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.30229 · Cited by 268 · see citing works
Localization of 5-HT6 receptors at the plasma membrane of neuronal cilia in the rat brain
Brailov, I., Bancila, M., Brisorgueil, M.-J., Miquel, M.-C., Hamon, M., & Vergé, D. (2000) · Brain Research · doi:10.1016/s0006-8993(00)02519-1 · Cited by 245 · see citing works
Characterization of the tubulin-tyrosine ligase.
Ersfeld, K., Wehland, J., Plessmann, U., DODEMONT, H. J., Gerke, V., & Weber, K. (1993) · The Journal of Cell Biology · doi:10.1083/jcb.120.3.725 · Cited by 238 · see citing works
Dampened Hedgehog signaling but normal Wnt signaling in zebrafish without cilia
Huang, P., & Schier, A. F. (2009) · Development · doi:10.1242/dev.041343 · Cited by 210 · see citing works
Cilia Proteins Control Cerebellar Morphogenesis by Promoting Expansion of the Granule Progenitor Pool
Chizhikov, V. V., Davenport, J., Zhang, Q., Shih, E. K., Cabello, O. A., Fuchs, J. L., Yoder, B. K., & Millen, K. J. (2007) · Journal of Neuroscience · doi:10.1523/jneurosci.5586-06.2007 · Cited by 204 · see citing works
Ftm is a novel basal body protein of cilia involved in Shh signalling
Vierkotten, J., Dildrop, R., Peters, T., Wang, B., & Rüther, U. (2007) · Development · doi:10.1242/dev.003715 · Cited by 201 · see citing works
Tubulin Polyglutamylation Regulates Axonemal Motility by Modulating Activities of Inner-Arm Dyneins
Kubo, T., Yanagisawa, H., Yagi, T., Hirono, M., & Kamiya, R. (2010) · Current Biology · doi:10.1016/j.cub.2009.12.058 · Cited by 194 · see citing works
Post‐translational modifications of tubulin in the nervous system
Fukushima, N., Furuta, D., Hidaka, Y., Moriyama, R., & Tsujiuchi, T. (2009) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2009.06013.x · Cited by 193 · see citing works
TTLL3 Is a Tubulin Glycine Ligase that Regulates the Assembly of Cilia
Włoga, D., Webster, D. M., Rogowski, K., Bré, M., Levilliers, N., Jerka‐Dziadosz, M., Janke, C., Dougan, S. T., & Gaertig, J. (2009) · Developmental Cell · doi:10.1016/j.devcel.2009.04.008 · Cited by 186 · see citing works
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis
Louie, C. M., Caridi, G., Lopes, V. S., Brancati, F., Kispert, A., Lancaster, M. A., Schlossman, A. M., Otto, E. A., Leitges, M., Gröne, H., et al. (2010) · Nature Genetics · doi:10.1038/ng.519 · Cited by 186 · see citing works
Self-citation
Ependyma: Normal and pathological. A review of the literature☆
Bruni, J., Bigio, M. R. D., & Clattenburg, R. E. (1985) · Brain Research Reviews · doi:10.1016/0165-0173(85)90016-5 · Cited by 180 · see citing works
Some common properties of the protein that incorporates tyrosine as a single unit and the microtubule proteins
Barra, H. S., Arce, C. A., Rodríguez, J. A., & Caputto, R. (1974) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(74)90351-9 · Cited by 180 · see citing works
Joubert Syndrome: Insights Into Brain Development, Cilium Biology, and Complex Disease
Doherty, D. (2009) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2009.06.002 · Cited by 176 · see citing works
Impaired Wnt–β-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy
Lancaster, M. A., Louie, C. M., Silhavy, J. L., Sintasath, L., DeCambre, M., Nigam, S. K., Willert, K., & Gleeson, J. G. (2009) · Nature Medicine · doi:10.1038/nm.2010 · Cited by 175 · see citing works
Self-citation
Tubulin polyglutamylation is essential for airway ciliary function through the regulation of beating asymmetry
Ikegami, K., Sato, S., Nakamura, K. D., Ostrowski, L. E., & Setou, M. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1002128107 · Cited by 173 · see citing works
Tubulin Glutamylation Regulates Ciliary Motility by Altering Inner Dynein Arm Activity
Suryavanshi, S., Eddé, B., Fox, L. A., Guerrero, S., Hard, R., Hennessey, T. M., Kabi, A., Malison, D., Pennock, D. G., Sale, W. S., et al. (2010) · Current Biology · doi:10.1016/j.cub.2009.12.062 · Cited by 169 · see citing works
A Crucial Role for Primary Cilia in Cortical Morphogenesis
Willaredt, M. A., Hasenpusch‐Theil, K., Gardner, H., Kitanović, I., Hirschfeld‐Warneken, V. C., Gojak, C., Gorgas, K., Bradford, C. L., Spatz, J. P., Wölfl, S., et al. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.2084-08.2008 · Cited by 144 · see citing works
Intraflagellar transport protein 172 is essential for primary cilia formation and plays a vital role in patterning the mammalian brain
Gorivodsky, M., Mukhopadhyay, M., Wilsch‐Bräuninger, M., Phillips, M., Teufel, A., Kim, C., Malik, N., Huttner, W. Β., & Westphal, H. (2008) · Developmental Biology · doi:10.1016/j.ydbio.2008.09.019 · Cited by 113 · see citing works
DISC1 Regulates Primary Cilia That Display Specific Dopamine Receptors
Marley, A., & von Zastrow, M. (2010) · PLoS ONE · doi:10.1371/journal.pone.0010902 · Cited by 106 · see citing works
The stumpy gene is required for mammalian ciliogenesis
Town, T., Breunig, J. J., Sarkisian, M. R., Spilianakis, C., Ayoub, A. E., Liu, X., Ferrandino, A. F., Gallagher, A. R., Li, M. O., Rakic, P., et al. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0712385105 · Cited by 91 · see citing works
Ttc21b is required to restrict sonic hedgehog activity in the developing mouse forebrain
Stottmann, R. W., Tran, P. V., Turbé-Doan, A., & Beier, D. R. (2009) · Developmental Biology · doi:10.1016/j.ydbio.2009.08.023 · Cited by 90 · see citing works
Unique Post-Translational Modifications in Specialized Microtubule Architecture
Ikegami, K., & Setou, M. (2010) · Cell Structure and Function · doi:10.1247/csf.09027 · Cited by 66 · see citing works
Cerebellar and Brainstem Development: An Overview in Relation to Joubert Syndrome
Yachnis, A. T., & RORKE, L. B. (1999) · Journal of Child Neurology · doi:10.1177/088307389901400904 · Cited by 56 · see citing works
Bardet-Biedl Syndrome and Brain Abnormalities
Rooryck, C., Pelras, S., Chateil, J., Cancès, C., Arveiler, B., Verloès, A., Lacombe, D., & Goizet, C. (2007) · Neuropediatrics · doi:10.1055/s-2007-981466 · Cited by 36 · see citing works
A case of Joubert's syndrome with extensive cerebral malformations.
ten Donkelaar, H. J., Hoevenaars, F., & Wesseling, P. (2000) · PubMed · Cited by 34 · see citing works
Cerebral and Cerebellar Motor Activation Abnormalities in a Subject with Joubert Syndrome: Functional Magnetic Resonance Imaging (MRI) Study
Parisi, M. A., Pinter, J. D., Glass, I. A., Field, K. M., Maria, B. L., Chance, P. F., Mahurin, R. K., & Cramer, S. C. (2004) · Journal of Child Neurology · doi:10.1177/0883073804019003.214 · Cited by 29 · see citing works
Joubert syndrome with bilateral polymicrogyria: Clinical and neuropathological findings in two brothers
Giordano, L., Vignoli, A., Pinelli, L., Brancati, F., Accorsi, P., Faravelli, F., Gasparotti, R., Granata, T., Giaccone, G., Inverardi, F., et al. (2009) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32936 · Cited by 27 · see citing works
Polyglutamylation and the fleer Gene
Pathak, N. H., & Drummond, I. A. S. (2009) · Methods in cell biology · doi:10.1016/s0091-679x(08)94016-4 · Cited by 10 · see citing works

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Higginbotham, H., Eom, T.-Y., Mariani, L. E., Bachleda, A., Hirt, J., Ghukasyan, V., Cusack, C. L., Lai, C., Caspary, T., & Anton, E. S. (2012) · Developmental Cell · doi:10.1016/j.devcel.2012.09.019 · Cited by 254 · see citing works
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Wilde, J. J., Petersen, J. R., & Niswander, L. A. (2014) · Annual Review of Genetics · doi:10.1146/annurev-genet-120213-092208 · Cited by 234 · see citing works
Molecular Mechanisms of Inner Ear DevelopmentPreprint
Wu, D. K., & Kelley, M. W. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a008409 · Cited by 212 · see citing works
Neuropeptide Y Family Receptors Traffic via the Bardet-Biedl Syndrome Pathway to Signal in Neuronal Primary Cilia
Loktev, A. V., & Jackson, P. K. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.11.011 · Cited by 212 · see citing works
A role for primary cilia in glutamatergic synaptic integration of adult-born neurons
Kumamoto, N., Gu, Y., Wang, J., Janoschka, S., Takemaru, K.-I., Levine, J., & Ge, S. (2012) · Nature Neuroscience · doi:10.1038/nn.3042 · Cited by 196 · see citing works
TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.
Huang, L., Szymanska, K., Jensen, V. L., Janecke, A. R., Innes, A. M., Davis, E. E., Frosk, P., Li, C., Willer, J. R., Chodirker, B. N., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.005 · Cited by 194 · 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
Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity
Guo, J., Otis, J. M., Higginbotham, H., Monckton, C., Cheng, J., Asokan, A., Mykytyn, K., Caspary, T., Stuber, G. D., & Anton, E. S. (2017) · Developmental Cell · doi:10.1016/j.devcel.2017.07.010 · Cited by 136 · see citing works
Primary cilia are required in a unique subpopulation of neural progenitors
Tong, C. K., Han, Y.-G., Shah, J. K., Obernier, K., Guinto, C. D., & Álvarez-Buylla, A. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1321425111 · Cited by 143 · see citing works
Integrative Mechanisms of Oriented Neuronal Migration in the Developing Brain
Evsyukova, I. Y., Plestant, C., & Anton, E. S. (2013) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-101512-122400 · Cited by 143 · see citing works
Developmental disruptions underlying brain abnormalities in ciliopathies
Guo, J., Higginbotham, H., Li, J., Nichols, J., Hirt, J., Ghukasyan, V., & Anton, E. S. (2015) · Nature Communications · doi:10.1038/ncomms8857 · Cited by 140 · see citing works
Arborization of Dendrites by Developing Neocortical Neurons Is Dependent on Primary Cilia and Type 3 Adenylyl Cyclase
Guadiana, S. M., Semple-Rowland, S., Daroszewski, D., Madorsky, I., Breunig, J. J., Mykytyn, K., & Sarkisian, M. R. (2013) · The Journal of Neuroscience · doi:10.1523/jneurosci.2906-12.2013 · Cited by 144 · see citing works
Formation of the transition zone by Mks5/Rpgrip1L establishes a ciliary zone of exclusion (CIZE) that compartmentalises ciliary signalling proteins and controls PIP2 ciliary abundance
Jensen, V. L., Li, C., Bowie, R. V., Clarke, L., Mohan, S., Blacque, O. E., & Leroux, M. R. (2015) · The EMBO Journal · doi:10.15252/embj.201488044 · Cited by 134 · see citing works
Congenital microcephaly
Alcantara, D., & O’Driscoll, M. (2014) · American Journal of Medical Genetics Part C Seminars in Medical Genetics · doi:10.1002/ajmg.c.31397 · Cited by 136 · see citing works
CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies
Rachel, R. A., Yamamoto, E. A., Dewanjee, M. K., May‐Simera, H., Sergeev, Y. V., Hackett, A. N., Pohida, K., Munasinghe, J., Gotoh, N., Wickstead, B., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv123 · Cited by 126 · see citing works
The extracellular matrix and ciliary signaling
Seeger-Nukpezah, T., & Golemis, E. A. (2012) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2012.06.002 · Cited by 117 · see citing works
Mechanics in the nervous system: From development to disease
Pillai, E. K., & Franze, K. (2023) · Neuron · doi:10.1016/j.neuron.2023.10.005 · Cited by 116 · see citing works
Katanin p80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number
Hu, W. F., Pomp, O., Ben‐Omran, T., Kodani, A., Henke, K., Mochida, G. H., Yu, T. W., Woodworth, M. B., Bonnard, C., Raj, G. S., et al. (2014) · Neuron · doi:10.1016/j.neuron.2014.12.017 · Cited by 99 · see citing works
Ciliopathies: The Central Role of Cilia in a Spectrum of Pediatric Disorders
Ferkol, T. W., & Leigh, M. W. (2011) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2011.11.024 · Cited by 93 · see citing works
Tissue mechanics, an important regulator of development and disease
Ayad, N. M. E., Kaushik, S., & Weaver, V. M. (2019) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2018.0215 · Cited by 89 · see citing works
Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome
Aguilar, A., Meunier, A., Strehl, L., Martinovic, J., Bonnière, M., Attié‐Bitach, T., Encha‐Razavi, F., & Spassky, N. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1201408109 · 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 Simple Cell-Based Assay Reveals That Diverse Neuropsychiatric Risk Genes Converge on Primary Cilia
Marley, A., & von Zastrow, M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0046647 · Cited by 76 · see citing works
Neurobiology of autism gene products: towards pathogenesis and drug targets
Kleijer, K. T. E., Schmeißer, M. J., Krueger‐Burg, D., Boeckers, T. M., Scheiffele, P., Bourgeron, T., Brose, N., & Burbach, J. P. H. (2014) · Psychopharmacology · doi:10.1007/s00213-013-3403-3 · Cited by 75 · see citing works
Amyloid-β interrupts canonical Sonic hedgehog signaling by distorting primary cilia structure
Vorobyeva, A. G., & Saunders, A. J. (2018) · Cilia · doi:10.1186/s13630-018-0059-y · Cited by 67 · see citing works
Cilia interactome with predicted protein-protein interactions reveals connections to Alzheimer’s disease, aging and other neuropsychiatric processes
Karunakaran, K. B., Chaparala, S., Lo, C. W., & Ganapathiraju, M. K. (2020) · Scientific Reports · doi:10.1038/s41598-020-72024-4 · Cited by 56 · see citing works
The multifaceted roles of primary cilia in the development of the cerebral cortex
Hasenpusch-Theil, K., & Theil, T. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.630161 · Cited by 66 · see citing works
Ciliary neuropeptidergic signaling dynamically regulates excitatory synapses in postnatal neocortical pyramidal neurons
Tereshko, L., Gao, Y., Cary, B. A., Turrigiano, G. G., & Sengupta, P. (2021) · eLife · doi:10.7554/elife.65427 · Cited by 60 · see citing works
CDC14A phosphatase is essential for hearing and male fertility in mouse and human
Imtiaz, A., Belyantseva, I. A., Beirl, A. J., Fenollar‐Ferrer, C., Bashir, R., Bukhari, I., Bouzid, A., Shaukat, U., Azaiez, H., Booth, K. T. A., et al. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx440 · Cited by 61 · see citing works
Neuronal Primary Cilia: An Underappreciated Signaling and Sensory Organelle in the Brain
Green, J. A., & Mykytyn, K. (2013) · Neuropsychopharmacology · doi:10.1038/npp.2013.203 · Cited by 59 · see citing works
From the Radiologic Pathology Archives: Pediatric Polycystic Kidney Disease and Other Ciliopathies: Radiologic-Pathologic Correlation
Chung, E. M., Conran, R. M., Schroeder, J. W., Rohena-Quinquilla, I. R., & Rooks, V. J. (2014) · Radiographics · doi:10.1148/rg.341135179 · Cited by 56 · see citing works
The Ciliary Protein Arl13b Functions Outside of the Primary Cilium in Shh-Mediated Axon Guidance
Ferent, J., Constable, S., Gigante, E. D., Yam, P. T., Mariani, L. E., Legué, E., Liem, K. F., Caspary, T., & Charron, F. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.11.015 · Cited by 55 · see citing works
Lack of Dopaminergic Inputs Elongates the Primary Cilia of Striatal Neurons
Miyoshi, K., Kasahara, K., Murakami, S., Takeshima, M., Kumamoto, N., Sato, A., Miyazaki, I., Matsuzaki, S., Sasaoka, T., Katayama, T., et al. (2014) · PLoS ONE · doi:10.1371/journal.pone.0097918 · Cited by 51 · see citing works
Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome
Kerr, E. N., Bhan, A., & Héon, E. (2015) · Clinical Genetics · doi:10.1111/cge.12614 · Cited by 53 · see citing works
Ulk4 Is Essential for Ciliogenesis and CSF Flow
Liu, M., Guan, Z., Shen, Q., Lalor, P., FitzGerald, U., O’Brien, T., Dockery, P., & Shen, S. (2016) · Journal of Neuroscience · doi:10.1523/jneurosci.0621-16.2016 · Cited by 50 · see citing works
Using C. elegans to Decipher the Cellular and Molecular Mechanisms Underlying Neurodevelopmental Disorders
Bessa, C., Maciel, P., & Rodrigues, A. J. (2013) · Molecular Neurobiology · doi:10.1007/s12035-013-8434-6 · Cited by 50 · see citing works
A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function
Salpietro, V., Efthymiou, S., Manole, A., Maurya, B., Wiethoff, S., Ashokkumar, B., Cutrupi, M. C., Dipasquale, V., Manti, S., Botía, J. A., et al. (2017) · Human Mutation · doi:10.1002/humu.23368 · Cited by 51 · see citing works
CROCCP2 acts as a human-specific modifier of cilia dynamics and mTOR signaling to promote expansion of cortical progenitors
Heurck, R. V., Bonnefont, J., Wojno, M., Suzuki, I., Velez-Bravo, F. D., Erkol, E., Nguyen, D. T., Herpoel, A., Bilheu, A., Beckers, S., et al. (2022) · Neuron · doi:10.1016/j.neuron.2022.10.018 · Cited by 51 · see citing works
The DNA methylome in panic disorder: A case-control and longitudinal psychotherapy-epigenetic study
Ziegler, C., Grundner-Culemann, F., Schiele, M. A., Schlosser, P., Kollert, L., Mahr, M., Gajewska, A., Lesch, K.-P., Deckert, J., Köttgen, A., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0648-6 · Cited by 47 · see citing works
MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders
Frasca, A., Spiombi, E., Palmieri, M., Albizzati, E., Valente, M. M., Bergo, A., Leva, B., Kilstrup‐Nielsen, C., Bianchi, F., Di Carlo, V., et al. (2020) · EMBO Molecular Medicine · doi:10.15252/emmm.201910270 · Cited by 46 · see citing works
Rab7 regulates primary cilia disassembly through cilia excision
Wang, G., Hu, H.-B., Chang, Y., Huang, Y., Song, Z.-Q., Zhou, S., Chen, L., Zhang, Y.-C., Wu, M., Tu, H.-Q., et al. (2019) · The Journal of Cell Biology · doi:10.1083/jcb.201811136 · Cited by 45 · see citing works
Depletion of primary cilia from mature dentate granule cells impairs hippocampus-dependent contextual memory
Rhee, S., Kirschen, G. W., Gu, Y., & Ge, S. (2016) · Scientific Reports · doi:10.1038/srep34370 · Cited by 39 · see citing works
Visualization of astrocytic primary cilia in the mouse brain by immunofluorescent analysis using the cilia marker Arl13b
Kasahara (2014) · PubMed · doi:10.18926/amo/53020 · Cited by 40 · see citing works
Reading and Language Disorders: The Importance of Both Quantity and Quality
Newbury, D. F., Monaco, A. P., & Paracchini, S. (2014) · Genes · doi:10.3390/genes5020285 · Cited by 40 · see citing works
Visualizing flow in an intact CSF network using optical coherence tomography: implications for human congenital hydrocephalus
Date, P., Ackermann, P., Furey, C. G., Fink, I. B., Jonas, S., Khokha, M. K., Kahle, K. T., & Deniz, E. (2019) · Scientific Reports · doi:10.1038/s41598-019-42549-4 · Cited by 40 · see citing works
Evidence of a role of inositol polyphosphate 5-phosphatase INPP5E in cilia formation in zebrafish
Luo, N., Lu, J.-P., & Sun, Y. (2012) · Vision Research · doi:10.1016/j.visres.2012.09.011 · Cited by 39 · see citing works
Ofd1 Controls Dorso-Ventral Patterning and Axoneme Elongation during Embryonic Brain Development
D'Angelo, A., Angelis, A. D., Avallone, B., Piscopo, I., Tammaro, R., Studer, M., & Franco, B. (2012) · PLoS ONE · doi:10.1371/journal.pone.0052937 · Cited by 38 · see citing works
Primary Cilia as a Possible Link between Left-Right Asymmetry and Neurodevelopmental Diseases
Trulioff, A. S., Ermakov, A. S., & Malashichev, Y. B. (2017) · Genes · doi:10.3390/genes8020048 · Cited by 37 · see citing works
Restoration of Physiological Expression of 5-HT6 Receptor into the Primary Cilia of Null Mutant Neurons Lengthens Both Primary Cilia and Dendrites
Lesiak, A. J., Brodsky, M., Cohenca, N., Croicu, A. G., & Neumaier, J. F. (2018) · Molecular Pharmacology · doi:10.1124/mol.117.111583 · Cited by 37 · see citing works
The Roles of Hedgehog Signaling in Upper Lip Formation
Kurosaka, H. (2015) · BioMed Research International · doi:10.1155/2015/901041 · Cited by 37 · see citing works
Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitability
Yao, G., Luo, C. T., Harvey, M. A., Wu, M., Schreiber, T. H., Du, Y., Basora, N., Su, X., Contreras, D., & Zhou, J. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv484 · Cited by 37 · see citing works
Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease
Panigrahy, A., Lee, V., Ceschin, R. C., Zuccoli, G., Beluk, N., Khalifa, O., Votava‐Smith, J. K., DeBrunner, M. G., Munoz, R. A., Domnina, Y. A., et al. (2016) · The Journal of Pediatrics · doi:10.1016/j.jpeds.2016.07.041 · Cited by 36 · see citing works
To beat, or not to beat, that is question! The spectrum of ciliopathies
Kempeneers, C., & Chilvers, M. A. (2018) · Pediatric Pulmonology · doi:10.1002/ppul.24078 · Cited by 35 · see citing works
INTS13 variants causing a recessive developmental ciliopathy disrupt assembly of the Integrator complex
Mascibroda, L. G., Shboul, M., Elrod, N. D., Colleaux, L., Hamamy, H., Huang, K.-L., Peart, N. J., Singh, M. K., Lee, H., Merriman, B., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-33547-8 · Cited by 35 · see citing works
Detection of Copy Number Variants Reveals Association of Cilia Genes with Neural Tube Defects
Chen, X., Shen, Y., Gao, Y., Zhao, H., Sheng, X., Zou, J., Lip, V., Xie, H., Guo, J., Shao, H., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0054492 · Cited by 34 · see citing works
NHERF1/EBP50 is an organizer of polarity structures and a diagnostic marker in ependymoma
Georgescu, M.-M., Yell, P. C., Mobley, B. C., Shang, P., Georgescu, T., Wang, S. J., Canoll, P., Hatanpaa, K. J., White, C. L., & Raisanen, J. M. (2015) · Acta Neuropathologica Communications · doi:10.1186/s40478-015-0197-z · Cited by 34 · see citing works
Centriole positioning in epithelial cells and its intimate relationship with planar cell polarity
Carvajal-González, J. M., Mulero‐Navarro, S., & Mlodzik, M. (2016) · BioEssays · doi:10.1002/bies.201600154 · Cited by 34 · see citing works
Permanent deconstruction of intracellular primary cilia in differentiating granule cell neurons
Ott, C. M., Constable, S., Nguyen, T., White, K., Lee, W.-C. A., Lippincott‐Schwartz, J., & Mukhopadhyay, S. (2024) · The Journal of Cell Biology · doi:10.1083/jcb.202404038 · Cited by 31 · see citing works
Zfp423 Regulates Sonic Hedgehog Signaling via Primary Cilium Function
Hong, C., & Hamilton, B. A. (2016) · PLoS Genetics · doi:10.1371/journal.pgen.1006357 · Cited by 29 · see citing works
Primary cilia as a novel horizon between neuron and environment
Xiong, Q., & Kirschen, G. (2017) · Neural Regeneration Research · doi:10.4103/1673-5374.213535 · Cited by 29 · see citing works
Development and Developmental Disorders of the Human Cerebellum
ten Donkelaar, H. J., Lammens, M. M. Y., Wesseling, P., & Hori, A. (2014) · Springer eBooks · doi:10.1007/978-3-642-54687-7_8 · Cited by 29 · see citing works
Mice with a conditional deletion of Talpid3 (KIAA0586) – a model for Joubert syndrome
Bashford, A. L., & Subramanian, V. (2019) · The Journal of Pathology · doi:10.1002/path.5271 · Cited by 27 · see citing works
Ciliated sensory hair cell formation and function require the F-BAR protein syndapin I and the WH2 domain-based actin nucleator Cobl
Schüler, S., Hauptmann, J., Perner, B., Kessels, M. M., Englert, C., & Qualmann, B. (2012) · Journal of Cell Science · doi:10.1242/jcs.111674 · Cited by 29 · see citing works
Sonic hedgehog signalling pathway contributes in age-related disorders and Alzheimer’s disease
Parashar, A., jha, D., Mehta, V., Chauhan, B., Ghosh, P., Deb, P. K., Jaiswal, M., & Prajapati, S. K. (2024) · Ageing Research Reviews · doi:10.1016/j.arr.2024.102271 · Cited by 28 · see citing works
Variable phenotypes and penetrance between and within different zebrafish ciliary transition zone mutants
Wang, J., Thomas, H. R., Thompson, R. G., Waldrep, S. C., Fogerty, J., Song, P., Li, Z., Ma, Y., Santra, P., Hoover, J. D., et al. (2022) · Disease Models & Mechanisms · doi:10.1242/dmm.049568 · Cited by 28 · see citing works
Axonemal positioning and orientation in three‐dimensional space for primary cilia: What is known, what is assumed, and what needs clarification
Farnum, C. E., & Wilsman, N. J. (2011) · Developmental Dynamics · doi:10.1002/dvdy.22756 · Cited by 26 · see citing works
Regulation of the cytoskeleton by Disrupted-in-Schizophrenia 1 (DISC1)
Wang, Q., & Brandon, N. J. (2011) · Molecular and Cellular Neuroscience · doi:10.1016/j.mcn.2011.06.004 · Cited by 27 · see citing works
Stress-induced localization of HSPA6 (HSP70B′) and HSPA1A (HSP70-1) proteins to centrioles in human neuronal cells
Khalouei, S., Chow, A. M., & Brown, I. R. (2013) · Cell Stress and Chaperones · doi:10.1007/s12192-013-0459-2 · Cited by 26 · see citing works
Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia
Nardo, A. D., Lenoël, I., Winden, K. D., Rühmkorf, A., Modi, M. E., Barrett, L. B., Ercan-Herbst, E., Venugopal, P., Behne, R., Lopes, C. A. M., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107780 · Cited by 26 · see citing works
Etiological Heterogeneity in Autism Spectrum Disorders
Betancur, C., & Coleman, M. (2012) · Elsevier eBooks · doi:10.1016/b978-0-12-391924-3.00008-9 · Cited by 27 · see citing works
The ciliary gene INPP5E confers dorsal telencephalic identity to human cortical organoids by negatively regulating Sonic hedgehog signaling
Schembs, L., Willems, A., Hasenpusch‐Theil, K., Cooper, J. D., Whiting, K., Burr, K., Bøstrand, S. M. K., Selvaraj, B. T., Chandran, S., & Theil, T. (2022) · Cell Reports · doi:10.1016/j.celrep.2022.110811 · Cited by 26 · see citing works
Overlap of polymicrogyria, hydrocephalus, and Joubert syndrome in a family with novel truncating mutations in ADGRG1/GPR56 and KIAA0556
Cauley, E. S., Hamed, A. A., Mohamed, I. N., Elseed, M. A., Martinez, S., Yahia, A., Abozar, F., Abubakr, R., Koko, M., Elsayed, L. E. O., et al. (2019) · Neurogenetics · doi:10.1007/s10048-019-00577-2 · Cited by 25 · see citing works
Sonic Hedgehog Regulates Wnt Activity During Neural Circuit Formation
Wilson, N. H., & Stoeckli, E. T. (2012) · Vitamins and hormones · doi:10.1016/b978-0-12-394622-5.00008-0 · Cited by 25 · see citing works
Cerebellar development after preterm birth
Iskusnykh, I. Y., & Chizhikov, V. V. (2022) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2022.1068288 · Cited by 24 · see citing works
The Chlamydomonas mutant pf27 reveals novel features of ciliary radial spoke assembly
Alford, L. M., Mattheyses, A. L., Hunter, E. L., Lin, H., Dutcher, S. K., & Sale, W. S. (2013) · Cytoskeleton · doi:10.1002/cm.21144 · Cited by 22 · see citing works
The XLID Protein PQBP1 and the GTPase Dynamin 2 Define a Signaling Link that Orchestrates Ciliary Morphogenesis in Postmitotic Neurons
Ikeuchi, Y., de la Torre-Ubieta, L., Matsuda, T., Steen, H., Okazawa, H., & Bonni, A. (2013) · Cell Reports · doi:10.1016/j.celrep.2013.07.042 · Cited by 22 · see citing works
The tubulin code specializes neuronal cilia for extracellular vesicle release
Akella, J. S., & Barr, M. M. (2020) · Developmental Neurobiology · doi:10.1002/dneu.22787 · Cited by 21 · see citing works
Signaling roles of phosphoinositides in the retina
Rajala, R. (2020) · Journal of Lipid Research · doi:10.1194/jlr.tr120000806 · Cited by 19 · see citing works
Non-invasive Low-Intensity Pulsed Ultrasound Modulates Primary Cilia of Rat Hippocampal Neurons
Huang, X., Lin, Z., Meng, L., Wang, K., Liu, X., Zhou, W., Zheng, H., & Niu, L. (2019) · Ultrasound in Medicine & Biology · doi:10.1016/j.ultrasmedbio.2018.12.012 · Cited by 19 · see citing works
A rare human CEP290 variant disrupts the molecular integrity of the primary cilium and impairs Sonic Hedgehog machinery
Kilander, M. B. C., Wang, C., Chang, C.-H., Nestor, J. E., Herold, K., Tsai, J., Nestor, M. W., & Lin, Y. (2018) · Scientific Reports · doi:10.1038/s41598-018-35614-x · Cited by 18 · see citing works
Targeting of vasoactive intestinal peptide receptor 2, VPAC2, a secretin family G-protein coupled receptor, to primary cilia
Soetedjo, L., Glover, D. A., & Jin, H. (2013) · Biology Open · doi:10.1242/bio.20134747 · Cited by 17 · see citing works
Retracted
Permanent cilia loss during cerebellar granule cell neurogenesis involves withdrawal of cilia maintenance and centriole capping
Constable, S., Ott, C. M., Lemire, A. L., White, K., Xun, Y., Lim, A., Lippincott‐Schwartz, J., & Mukhopadhyay, S. (2024) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2408083121 · Cited by 16 · see citing works
BMP signaling suppresses Gemc1 expression and ependymal differentiation of mouse telencephalic progenitors
Omiya, H., Yamaguchi, S., Watanabe, T., Kuniya, T., Harada, Y., Kawaguchi, D., & Gotoh, Y. (2021) · Scientific Reports · doi:10.1038/s41598-020-79610-6 · Cited by 17 · see citing works
The decrease of intraflagellar transport impairs sensory perception and metabolism in ageing
Zhang, Y., Zhang, X., Dai, Y., Song, M., Zhou, Y., Zhou, J. Y., Yan, X., & Shen, Y. (2021) · Nature Communications · doi:10.1038/s41467-021-22065-8 · Cited by 20 · see citing works
Phenotypic characterization of Cdkl5-knockdown neurons establishes elongated cilia as a functional assay for CDKL5 Deficiency Disorder
Nardo, A. D., Rühmkorf, A., Award, P., Brennecke, A., Fagiolini, M., & Şahin, M. (2021) · Neuroscience Research · doi:10.1016/j.neures.2021.10.001 · Cited by 17 · see citing works
Loss of ARL13 impedes BBSome-dependent cargo export from Chlamydomonas cilia
Dai, J., Zhang, G., Alkhofash, R. A., Mekonnen, B., Saravanan, S., Xue, B., Fan, Z., Betleja, E., Cole, D. G., Liu, P., et al. (2022) · The Journal of Cell Biology · doi:10.1083/jcb.202201050 · Cited by 17 · see citing works
Enteric neurons show a primary cilium
Bartolomé, M. J. L., Cantarero, I., Castiella, T., Soriano‐Navarro, M., García‐Verdugo, J. M., & Junquera, C. (2012) · Journal of Cellular and Molecular Medicine · doi:10.1111/j.1582-4934.2012.01657.x · Cited by 17 · see citing works
A multiscale mathematical model of cell dynamics during neurogenesis in the mouse cerebral cortex
Postel, M., Karam, A., Pézeron, G., Schneider‐Maunoury, S., & Clément, F. (2019) · BMC Bioinformatics · doi:10.1186/s12859-019-3018-8 · Cited by 16 · see citing works
Clinical and Imaging Profile of Patients with Joubert Syndrome
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Authors: Lee, J. E., & Gleeson, J. G.
Affiliations: Howard Hughes Medical Institute (US)
Corresponding author: Gleeson, Joseph G
ORCID: Lee, Ji E
Gleeson, Joseph G
Venue: Current Opinion in Neurology
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2011-04
Volume: 24
Issue: 2
Pages: 98-105
ISSN: 1350-7540 (ISSN-L)
DOI: 10.1097/wco.0b013e3283444d05
PMC: PMC3984876
OpenAlex: W2018911042
Cited by: 185
References: 65
Citations by year: 2026: 10 · 2025: 11 · 2024: 9 · 2023: 10 · 2022: 13 · 2021: 12 · 2020: 11 · 2019: 16 · 2018: 9 · 2017: 6 · 2016: 9 · 2015: 13 · 2014: 16 · 2013: 15 · 2012: 19
FWCI: 1.90
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Current Opinion in Neurology (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: Howard Hughes Medical Institute
National Institute of Neurological Disorders and Stroke (R01NS048453, R01NS052455)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Cystic Fibrosis Research Advances
Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Fetal and Pediatric Neurological Disorders
Keywords: primary cilia, ciliopathies, neurodevelopmental disorders, Joubert syndrome, Bardet-Biedl syndrome, Meckel-Gruber syndrome, brain malformations, Sonic hedgehog signaling, planar cell polarity signaling, FGF signaling, Wingless signaling, signal transduction, central nervous system development
MeSH terms: Abnormalities, Multiple, Central Nervous System, Cerebellar Diseases, Cerebellum, Developmental Disabilities, Cilia, Eye Abnormalities, Humans, Nervous System Diseases, Neurons, Retina, Syndrome, Signal Transduction, Kidney Diseases, Cystic

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Cilia in the nervous system: linking cilia function and neurodevelopmental disorders

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