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Primary Cilia in the Developing and Mature Brain
Open accessAbstract
Primary cilia were the largely neglected nonmotile counterparts of their better-known cousin, the motile cilia. For years these nonmotile cilia were considered evolutionary remnants of little consequence to cellular function. Fast forward 10 years and we now recognize primary cilia as key integrators of extracellular ligand-based signaling and cellular polarity, which regulate neuronal cell fate, migration, differentiation, as well as a host of adult behaviors. Important future questions will focus on structure-function relationships, their roles in signaling and disease and as areas of target for treatments.
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“Treatment of mouse hippocampal neurons with the SSTR3 ligand, somatostatin, stimulates recruitment of endogenous β-arrestin into SSTR3-positive cilia, leading to a rapid β-arrestin-2-dependent decrease in the ciliary SSTR3 167”
From Cellular signalling by primary cilia in development, organ function and disease (2019) · cites this paper as [167]
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“ciliary localization of SSTR3 is not affected in β-arrestin-2-deficient hippocampal neurons167.”
From Cellular signalling by primary cilia in development, organ function and disease (2019) · cites this paper as [167]
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“Neuronal cilia are enriched for certain GPCRs and downstream effector proteins 152, 166, 167”
From Cellular signalling by primary cilia in development, organ function and disease (2019) · cites this paper as [167]
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“Numerous studies have suggested the importance of the primary cilium in neuronal cells (Guemez-Gamboa et al. 2014).”
From Astrocyte-specific inhibition of the primary cilium suppresses C3 expression in reactive astrocyte (2024) · cites this paper as Guemez-Gamboa et al. 2014
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Citations
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Cited by
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Cellular signalling by primary cilia in development, organ function and disease
Anvarian, Z., Mykytyn, K., Mukhopadhyay, S., Pedersen, L. B., & Christensen, S. T. (2019) · Nature Reviews Nephrology · doi:10.1038/s41581-019-0116-9 · Cited by 845
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“The CBC showed a high expression of genes involved in cilium development, which is essential for brain development and function (Guemez-Gamboa et al., 2014).”
BackgroundSynthetic Analyses of Single-Cell Transcriptomes from Multiple Brain Organoids and Fetal Brain
Tanaka, Y., Çakır, B., Xiang, Y., Sullivan, G. J., & Park, I. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.01.038 · Cited by 244
“Cell clusters represented by cilium (cilia-bearing cell [CBC]) and BMP signaling (BMP-related cell [BRC]), which are crucial for early neurogenesis and survival (Guemez-Gamboa et al., 2014), were observed both in fetal brain and in all hCOs (Figure 2D).”
BackgroundCPAP promotes timely cilium disassembly to maintain neural progenitor pool
Gabriel, E., Wason, A., Ramani, A., Gooi, L. M., Keller, P., Pozniakovsky, A., Poser, I., Noack, F., Telugu, N. S., Calegari, F., et al. (2016) · The EMBO Journal · doi:10.15252/embj.201593679 · Cited by 243
“The cilium is the primary microtubule-based organelle that is dynamically regulated, with assembly occurring during cell cycle exit, and disassembly coinciding with cell cycle re-entry (Jackson, 2011; Kim et al , 2011; Paridaen et al , 2013; Guemez-Gamboa et al , 2014).”
Takata, A., Matsumoto, N., & Kato, T. (2017) · Nature Communications · doi:10.1038/ncomms14519 · Cited by 192
“…adult human tissues 44 and plays a key role in stabilization of neuronal cilia 44 , whose contribution to various neural functions including nervous system development and adult neurogenesis 45 , as well as possible involvement in the pathophysiology of schizophrenia 46,47 , have been reported.”
A serotonergic axon-cilium synapse drives nuclear signaling to alter chromatin accessibility
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Primary Cilia Signaling Shapes the Development of Interneuronal Connectivity
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“The critical role of primary cilia in brain development and function is evident in human ciliopathies (Guemez-Gamboa et al., 2014; Guo et al., 2015), where disrupted cilia function lead to brain malformations and behavioral deficits.”
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 149
“progenitor formation and organization (1), radial glial progenitor and intermediate progenitor proliferation (2), multipolar-to-bipolar transition of newborn”
Understanding Language from a Genomic Perspective
Graham, S. A., & Fisher, S. E. (2015) · Annual Review of Genetics · doi:10.1146/annurev-genet-120213-092236 · Cited by 139
Elevating Growth Factor Responsiveness and Axon Regeneration by Modulating Presynaptic Inputs
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“Despite the documented role of primary cilia as a signaling center during development (Guemez-Gamboa et al., 2014; Hilgendorf et al., 2016), their role in mature neurons has not been well characterized (Siljee et al.”
Park, S. M., Lim, J. S., Ramakrishina, S., Kim, S. H., Kim, W. K., Lee, J., Kang, H.-C., Reiter, J. F., Kim, D. S., Kim, H. (., et al. (2018) · Neuron · doi:10.1016/j.neuron.2018.05.039 · Cited by 114
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“A diagnostic feature of many ciliopathies is axonal tract defects (Green et al., 2018; Guadiana et al., 2013; Guemez-Gamboa et al., 2014; Hildebrandt et al., 2011; Reiter and Leroux, 2017; Sarkisian and Guadiana, 2015; Parisi, 2019; Poretti et al., 2007).”
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Mapping of neuronal and glial primary cilia contactome and connectome in the human cerebral cortex
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“and patterning of neural progenitors (Guemez-Gamboa et al., 2014), the migration and laminar placement of interneurons (Higginbotham et al.”
BackgroundNeuronal 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
“Accordingly, primary cilia regulate cell division [7], development [4,8,9], and tissue regeneration [10].”
BackgroundInfluentialAn Olfactory Cilia Pattern in the Mammalian Nose Ensures High Sensitivity to Odors
Challis, R. C., Tian, H., Wang, J., He, J., Jiang, J., Chen, X., Yin, W., Connelly, T., Ma, L., Yu, C. R., et al. (2015) · Current Biology · doi:10.1016/j.cub.2015.07.065 · Cited by 80
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mTORC1 signaling and primary cilia are required for brain ventricle morphogenesis
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Electron Microscopic Reconstruction of Functionally Identified Cells in a Neural Integrator
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“Inhibition of PDGFD–PDGFRb signalling in human cortical slice culture prevented normal cell cycle progression of RG. Conversely, ectopic expression of PDGFRb in developing mouse neocortex increased RG abundance and subventricular displacement.”
BackgroundInfluentialConvergent and Divergent Mechanisms of Epileptogenesis in mTORopathies
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Genome-Wide Association Study of Susceptibility Loci for Radiation-Induced Brain Injury
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“Increasing evidence has indicated that primary cilia plays important roles in coordinating a variety of cellular signaling pathways in neuronal cell and regulate cell migration, differentiation, as well as a host of adult behaviors (34).”
BackgroundHuang, Y., Guo, L., Cao, C., Ma, R., Huang, Y.-T., Zhong, K., Gao, H., Huang, Y., & Bu, Q. (2022) · The Science of The Total Environment · doi:10.1016/j.scitotenv.2022.157047 · Cited by 65
Shortened primary cilium length and dysregulated Sonic hedgehog signaling in Niemann-Pick C1 disease
Canterini, S., Dragotto, J., Dardis, A., Zampieri, S., Stefano, M. E. D., Mangia, F., Erickson, R. P., & Fiorenza, M. T. (2017) · Human Molecular Genetics · doi:10.1093/hmg/ddx118 · Cited by 63
“In fact, recent studies have linked defects of genes encoding for ciliary proteins to various cerebellar disorders (64), laying the basis for a coherent definition and classification of human ciliopathies.”
Tereshko, L., Gao, Y., Cary, B. A., Turrigiano, G. G., & Sengupta, P. (2021) · eLife · doi:10.7554/elife.65427 · Cited by 60
The essential role of primary cilia in cerebral cortical development and disorders
Liu, S., Trupiano, M. X., Simon, J. M., Guo, J., & Anton, E. S. (2021) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2020.11.003 · Cited by 64
Trisomy 21 Represses Cilia Formation and Function
Galati, D. F., Sullivan, K. D., Pham, A. T., Espinosa, J. M., & Pearson, C. G. (2018) · Developmental Cell · doi:10.1016/j.devcel.2018.07.008 · Cited by 59
Matsumoto, M., Sawada, M., García‐González, D., Herranz‐Pérez, V., Ogino, T., Nguyen, H. B., Thai, T. Q., Narita, K., Kumamoto, N., Ugawa, S., et al. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.1503-19.2019 · Cited by 63
“The primary cilium is a tiny cellular protrusion that contains signaling receptors on its membrane (Guemez-Gamboa et al., 2014; Malicki and Johnson, 2017), and regulates neural stem cell proliferation (Breunig et al.”
BackgroundKasioulis, I., Das, R. M., & Storey, K. G. (2017) · eLife · doi:10.7554/elife.26215 · Cited by 59
“Mediators of the mitogenic Sonic hedgehog pathway are processed into activated forms in the primary cilium (Guemez-Gamboa et al., 2014; Kim et al., 2009) and so this may be a further way in which cell biological mechanisms associated with delamination link this process to cell state change.”
BackgroundWaugh, M. G. (2015) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/j.bbalip.2015.02.002 · Cited by 59
Primary cilia and autophagic dysfunction in Huntington’s disease
Kaliszewski, M., Knott, A. B., & Bossy-Wetzel, E. (2015) · Cell Death & Differentiation · doi:10.1038/cdd.2015.80 · Cited by 55
“Present in neurons, astrocytes and progenitors, these structures have an important role in neurodevelopment–– acting in neuronal homeostasis, differentiation and survival.(71) Neurological defects associated with so-called ciliopathies,”
BackgroundXu, Y., Cao, J., Huang, S., Feng, D., Zhang, W., Zhu, X., & Yan, X. (2015) · PLoS ONE · doi:10.1371/journal.pone.0124378 · Cited by 56
“Defects in cilia assembly and function result in severe disorders called ciliopathies, including infertility, retinal degeneration, hydrocephalus, polycystic kidney, and situs inversus [2,4,5].”
BackgroundMartin, L., Kaci, N., Estibals, V., Goudin, N., Garfa-Traore, M., Benoist-Lasselin, C., Dambroise, E., & Legeai-Mallet, L. (2018) · Human Molecular Genetics · doi:10.1093/hmg/ddx374 · Cited by 51
“The PC is chemosensitive and controls diverse signaling pathways important in cartilage growth plate development and tissue homeostasis (21,22), including hedgehog (23), Wnt/b-catenin (24), Pdgf (25), cAMP/PKA signaling and cell cycle progression (26).”
BackgroundRethinking the cilia hypothesis of hydrocephalus
Duy, P. Q., Greenberg, A. B. W., Butler, W. E., & Kahle, K. T. (2022) · Neurobiology of Disease · doi:10.1016/j.nbd.2022.105913 · Cited by 52
Beck, T. N., Nicolas, E., Kopp, M. C., & Golemis, E. A. (2014) · Oncoscience · doi:10.18632/oncoscience.64 · Cited by 50
“Further interactions between NEDD9 and AURKA in G0/G1 cells regulate integrity of the cell cilium [84], a structure important for brain patterning and function [85, 86] that is organized around a microtubule-based axoneme.”
BackgroundJurisch‐Yaksi, N., Wachten, D., & Gopalakrishnan, J. (2024) · Trends in Neurosciences · doi:10.1016/j.tins.2024.03.004 · Cited by 53
Diagnostic Approach to Cerebellar Hypoplasia
Accogli, A., Addour-Boudrahem, N., & Srour, M. (2021) · The Cerebellum · doi:10.1007/s12311-020-01224-5 · Cited by 46
The cilium: a cellular antenna with an influence on obesity risk
Mariman, E. C. M., Vink, R., Roumans, N. J. T., Bouwman, F. G., Schrander-Stumpel, C. T. R. M., Aller, E. E. J. G., van Baak, M. A., & Wang, P. (2016) · British Journal Of Nutrition · doi:10.1017/s0007114516002282 · Cited by 46
Shohayeb, B., Ho, U. Y., Yeap, Y. Y. C., Parton, R. G., Millard, S. S., Xu, Z., Piper, M., & Ng, D. C. H. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz281 · Cited by 45
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
“Primary cilium is a non-motile microtubule-based organelle that grows from a centrosome-derived structure, termed the basal body, and protrudes from the cell surface of almost every quiescent or differentiated mammalian cell, including neurons (Guemez-Gamboa et al, 2014).”
BackgroundKang, G. M., Han, Y., Ko, H. W., Kim, J., Oh, B., Kwon, I., & Kim, M. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.639468 · Cited by 48
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 47
Primary cilia modulate TLR4-mediated inflammatory responses in hippocampal neurons
Baek, H., Shin, H. J., Kim, J.-J., Shin, N., Kim, S., Yi, M.-H., Zhang, E., Hong, J., Kang, J. W., Kim, Y., et al. (2017) · Journal of Neuroinflammation · doi:10.1186/s12974-017-0958-7 · Cited by 43
“Primary cilia have well-established roles in the regulation of many signaling pathways [34].”
BackgroundCongenital Diseases of DNA Replication: Clinical Phenotypes and Molecular Mechanisms
Schmit, M., & Bielinsky, A. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22020911 · Cited by 43
Ciliary Dyneins and Dynein Related Ciliopathies
Antony, D., Brunner, H. G., & Schmidts, M. (2021) · Cells · doi:10.3390/cells10081885 · Cited by 45
“Dysfunction of primary cilia results in multiple developmental defects including cyst formations, fibrosis, skeletal abnormalities, craniofacial defects [4] neural tube defects, cerebellar vermis hypoplasia and photoreceptor defects [28,29].”
BackgroundPrimary cilia TRP channel regulates hippocampal excitability
Vien, T. N., Ta, M. C., Kimura, L. F., Onay, T., & DeCaen, P. G. (2023) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2219686120 · Cited by 33
“Primary cilia are proposed chemosensory antennae in the CNS—receiving neuro-modulatory inputs through activation of enriched G-protein-coupled receptors (3–6).”
Primary Cilia Dysfunction in Neurodevelopmental Disorders beyond Ciliopathies
Karalis, V., Donovan, K. E., & Şahin, M. (2022) · Journal of Developmental Biology · doi:10.3390/jdb10040054 · Cited by 39
Respiratory motile cilia dysfunction in a patient with cranioectodermal dysplasia
Li, Y., Garrod, A. S., Madan‐Khetarpal, S., Sreedher, G., McGuire, M., Yagi, H., Klena, N., Gabriel, G. C., Khalifa, O., Zahid, M., et al. (2015) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37133 · Cited by 40
“The finding of extra-axial CSF, brain dysplasia, and small optic nerve have been described in other ciliopathies [Baker and Beales, 2013] and may reflect the combined effects of primary and motile cilia defects [McIntyre et al., 2012; Guemez-Gamboa et al., 2014].”
BackgroundGuadiana, S. M., Parker, A. K., Filho, G. F., Sequeira, A. R., Semple‐Rowland, S. L., Shaw, G., Mandel, R. J., Foster, T. C., Kumar, A., & Sarkisian, M. R. (2016) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2016.00127 · Cited by 39
“They are believed to sense and respond to a variety of chemical changes in the local extracellular environment like small ‘‘cellular antennae’’ (for review see: Louvi and Grove, 2011; Guemez-Gamboa et al., 2014; Sarkisian and Guadiana, 2015).”
BackgroundCilia in hereditary cerebral anomalies
Thomas, S., Boutaud, L., Reilly, M. L., & Benmerah, A. (2019) · Biology of the Cell · doi:10.1111/boc.201900012 · Cited by 45
“…(MIM #249000; MKS) syndromes where almost 13 common genes have so far been reported, supporting the notion that MKS represents the extreme lethal form of JBTS. Developmental brain anomalies are among the characteristic and frequent ciliopathy-associated manifestations [Guemez-Gamboa et al., 2014].”
BackgroundGli2 Rescues Delays in Brain Development Induced by Kif3a Dysfunction
Chen, J.-L., Chang, C.-H., & Tsai, J. (2017) · Cerebral Cortex · doi:10.1093/cercor/bhx356 · Cited by 41
“2013) in the primary cilium, an antenna-like protrusion from the cell surface of many cell types, including NEPs, RGCs, and cortical neurons (Dahl 1963; Arellano et al. 2002; Higginbotham et al. 2013; Guemez-Gamboa et al. 2014).”
BackgroundCiliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling
Reilly, M. L., & Benmerah, A. (2019) · Biology of the Cell · doi:10.1111/boc.201800074 · Cited by 42
“Central nervous system defects are also observed in ciliopathies highlighting the important role of cilia during brain development [Guemez-Gamboa et al., 2014; Thomas et al., manuscript in preparation).”
BackgroundFinn, R., Evans, C. C., & Lee, L. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2014.07.029 · Cited by 37
“The immotile primary cilia found on other cell types, which have a 9+0 microtubule structure and a mechanosensory function, are unaffected in PCD patients (Berbari et al., 2009; Guemez-Gamboa et al., 2014).”
BackgroundBrain 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
“[42, 43] We note Pde2a, a dual specificity phosphodiesterase [51] known to mediate long-term potentiation and synaptic plasticity [52] was recovered among cilia related genes causing CHD in our mouse mutagenesis screen.”
BackgroundLoss of Rsph9 causes neonatal hydrocephalus with abnormal development of motile cilia in mice
Zou, W., Lv, Y., Liu, Z. I., Xia, P., Li, H., & Jiao, J. (2020) · Scientific Reports · doi:10.1038/s41598-020-69447-4 · Cited by 38
Ma, R., Kutchy, N. A., & Hu, G. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.06.009 · Cited by 38
Wang, L., Guo, Q., Acharya, S., Zheng, X., Huynh, V., Whitmore, B., Yimit, A., Malhotra, M., Chatterji, S., Rosin, N., et al. (2024) · Nature Neuroscience · doi:10.1038/s41593-024-01726-z · Cited by 33
“Primary cilia serve as a primary mediator for canonical SHH (cSHH) signaling transduction in most mammalian cell types, but their role in mediating cSHH signaling in astrocytes has not been examined 12,29,43 .”
Xiao, H., Zhang, T., Li, C., Cao, Y. B., Wang, L., Chen, H., Li, S., Guan, C., Hu, J., Chen, D., et al. (2022) · eLife · doi:10.7554/elife.73614 · Cited by 38
Mapping GPR88-Venus illuminates a novel role for GPR88 in sensory processing
Ehrlich, A. T., Semache, M., Bailly, J., Wojcik, S., Arefin, T. M., Colley, C., Gouill, C. L., Gross, F., Lukasheva, V., Hogue, M., et al. (2017) · Brain Structure and Function · doi:10.1007/s00429-017-1547-3 · Cited by 39
“…in barrel cortex function and associated sensorimotor behavior (Ferezou et al. 2007; Manita et al. 2015; Schneider et al. 2014; Zhang et al. 2014; Guo et al. 2014), and L6 projections to the thalamus are known to filter and feedback sensory inputs to the cortex (Crandall et al. 2015; Cudeiro and…”
Background5-HT6R null mutatrion induces synaptic and cognitive defects
Sun, Z., Wang, B., Chen, C., Li, C., & Zhang, Y. (2021) · Aging Cell · doi:10.1111/acel.13369 · Cited by 35
Magnani, D., Morlé, L., Hasenpusch‐Theil, K., Paschaki, M., Jacoby, M., Schurmans, S., Durand, B., & Theil, T. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddv021 · Cited by 33
A neural stem cell paradigm of pediatric hydrocephalus
Duy, P. Q., RAKIC, P. T., Alper, S. L., Robert, S. M., Kundishora, A. J., Butler, W. E., Walsh, C. A., Šestan, N., Geschwind, D. H., Jin, S. C., et al. (2022) · Cerebral Cortex · doi:10.1093/cercor/bhac341 · Cited by 32
Muthusamy, N., Sommerville, L. J., Moeser, A. J., Stumpo, D. J., Sannes, P. L., Adler, K. B., Blackshear, P. J., Weimer, J. M., & Ghashghaei, H. T. (2015) · Aging Cell · doi:10.1111/acel.12354 · Cited by 32
“Primary cilia have emerged as important sensors of circulating proteins in the CSF (Guemez-Gamboa et al., 2014).”
Unique spatiotemporal requirements for intraflagellar transport genes during forebrain development
Snedeker, J., Schock, E. N., Struve, J. N., Chang, C., Cionni, M., Tran, P. V., Brugmann, S. A., & Stottmann, R. W. (2017) · PLoS ONE · doi:10.1371/journal.pone.0173258 · Cited by 32
The Sonic Hedgehog signaling pathway regulates inferior alveolar nerve regeneration
Yamada, Y., Ohazama, A., Maeda, T., & Seo, K. (2018) · Neuroscience Letters · doi:10.1016/j.neulet.2017.12.051 · Cited by 33
Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics
Vandervore, L. V., Schot, R., Kasteleijn, E., Oegema, R., Stouffs, K., Gheldof, A., Grochowska, M. M., van der Sterre, M. L. T., van Unen, L., Wilke, M., et al. (2019) · Brain · doi:10.1093/brain/awz045 · Cited by 32
Diverged morphology changes of astrocytic and neuronal primary cilia under reactive insults
Sterpka, A., Yang, J., Strobel, M., Zhou, Y., Pauplis, C., & Chen, X. (2020) · Molecular Brain · doi:10.1186/s13041-020-00571-y · Cited by 30
“including cognitive impairment [12], obesity [13], developmental disorders [14], and glioblastomas [15, 16].”
BackgroundHartwig, C. L., Monis, W. J., Chen, X., Dickman, D. K., Pazour, G. J., & Faúndez, V. (2017) · Developmental Neurobiology · doi:10.1002/dneu.22542 · Cited by 29
“Cilia are required for G-protein-coupled receptor dependent signaling as well as sonic hedgehog- and planar cell polarity-dependent neuronal specification and tissue morphogenesis (Guemez-Gamboa et al., 2014).”
BackgroundInfluentialMice 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 28
“The primary cilium is an antenna-like non-motile structure which protrudes from the cell and consists of a basal body (mother centriole) and an axoneme [1,2].”
BackgroundBrain‐specific functions of the endocytic machinery
Camblor‐Perujo, S., & Kononenko, N. L. (2021) · FEBS Journal · doi:10.1111/febs.15897 · Cited by 33
Analysis of cilia structure and function in zebrafish
Leventea, E., Hazime, K. S., Zhao, C., & Malicki, J. J. (2016) · Methods in cell biology · doi:10.1016/bs.mcb.2016.04.016 · Cited by 33
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
Impaired hypocretin/orexin system alters responses to salient stimuli in obese male mice
Tan, Y. C., Hang, F., Liu, Z.-W., Stoiljković, M., Wu, M., Tu, Y., Han, W., Lee, A. M., Kelley, C., Hajós, M., et al. (2020) · Journal of Clinical Investigation · doi:10.1172/jci130889 · Cited by 26
Kazatskaya, A., Kuhns, S., Lambacher, N. J., Kennedy, J. E., Brear, A. G., McManus, G., Sengupta, P., & Blacque, O. E. (2017) · Genetics · doi:10.1534/genetics.117.300383 · Cited by 30
“These includemost postmitotic vertebrate cells,whichpossess an immotile or primary cilium that senses and transduces environmental cues (Goetz et al. 2009; Drummond 2012; Ko 2012; Guemez-Gamboa et al.2014).”
BackgroundEmerging Roles of Primary Cilia in Glioma
Sarkisian, M. R., & Semple‐Rowland, S. L. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00055 · Cited by 27
Guen, V. J., Edvardson, S., Fraenkel, N., Fattal‐Valevski, A., Jalas, C., Anteby, I. I., Shaag, A., Dor, T., Gillis, D., Kerem, E., et al. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38506 · Cited by 29
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 28
“In the CNS, ciliopathies are associated with severe neurodevelopmental outcomes including brain malformations, ASD, and intellectual disability (Bettencourt-Dias et al., 2011; Guemez-Gamboa et al., 2014).”
McKnight, I., Hart, C., Park, I., & Shim, J. W. (2020) · Experimental Neurology · doi:10.1016/j.expneurol.2020.113523 · Cited by 24
“SHH is highly expressed in neural stem cells of the developing cortex, including the radial glia, intermediate progenitors, and outer radial astrocytes (Britto et al., 2002; Guemez-Gamboa et al., 2014; Han et al., 2008).”
BackgroundThe Primary Cilium and Neuronal Migration
Stoufflet, J., & Caillé, I. (2022) · Cells · doi:10.3390/cells11213384 · Cited by 25
“T e third, and now prove to be true, hypothesis was that the PC is a key cellular sensory org nelle [6,7].”
BackgroundPrimary Cilia–An Underexplored Topic in Major Mental Illness
Pruski, M., & Lang, B. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2019.00104 · Cited by 25
Guarnieri, G., Sarchielli, E., Comeglio, P., Herrera-Puerta, E., Piaceri, I., Nacmias, B., Benelli, M., Kelsey, G., Maggi, M., Gallina, P., et al. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21176128 · Cited by 24
“Indeed, recent studies have implicated primary cilia formation in the mechanism regulating neurogenesis both during fetal development [45] and in the adult brain [46].”
BackgroundIshii, S., Sasaki, T., Mohammad, S., Hwang, H. M., Tomy, E., Somaa, F. A., Ishibashi, N., Okano, H., RAKIC, P. T., Hashimoto‐Torii, K., et al. (2020) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2012482118 · Cited by 24
“Primary cilia are known to play a pivotal role in early normal brain development (28) by regulating the signal transduction of key molecular pathways such as Hedgehog and Wnt signaling (29).”
BackgroundLoss of Primary Cilia Results in the Development of Cancer in the Murine Thyroid Gland.
Lee, J., Yi, S., Chang, J. Y., Kim, J. T., Sul, H. J., Park, K. C., Zhu, X., Cheng, S.-Y., Kero, J. T., Kim, J., et al. (2019) · Europe PMC (PubMed Central) · doi:10.14348/molcells.2018.0430 · Cited by 24
Centrioles are amplified in cycling progenitors of olfactory sensory neurons
Ching, K., & Stearns, T. (2020) · PLoS Biology · doi:10.1371/journal.pbio.3000852 · Cited by 22
Noh, M., Oh, S., Kim, Y.-E., Cha, S. J., Sung, W., Oh, K., Park, Y., Mun, J. Y., Ki, C., Nahm, M., et al. (2025) · Molecular Neurodegeneration · doi:10.1186/s13024-025-00848-7 · Cited by 23
“Primary cilia are microtubule-based, non-motile organelles found in most mammalian cell types, including neurons and astrocytes [18].”
Ciliary biology intersects autism and congenital heart disease
Teerikorpi, N., McCluskey, K. E., Bader, E., Lasser, M. C., Wang, S., Nguyen, C. H., Schmidt, J. D., Kostyanovskaya, E., Sun, N., Dea, J., et al. (2025) · Development · doi:10.1242/dev.204295 · Cited by 22
McKenzie, C. W., Preston, C. C., Finn, R., Eyster, K. M., Faustino, R. S., & Lee, L. (2018) · Scientific Reports · doi:10.1038/s41598-018-31743-5 · Cited by 24
Loss of p73 in ependymal cells during the perinatal period leads to aqueductal stenosis
Fujitani, M., Sato, R., & Yamashita, T. (2017) · Scientific Reports · doi:10.1038/s41598-017-12105-z · Cited by 23
Primary Ciliary Signaling in the Skin—Contribution to Wound Healing and Scarring
Hosio, M., Jaks, V., Lagus, H., Vuola, J., Ogawa, R., & Kankuri, E. M. (2020) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2020.578384 · Cited by 22
“Defects in cilia, as seen in the case of ciliopathies, also affect the nervous system (Guemez-Gamboa et al., 2014).”
BackgroundThe 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
“In the nervous system, a single primary cilium is observed on neuronal cell bodies and astrocyte glia, while ependymal cells lining the brain have multiple motile cilia (Brailov et al., 2000; Guemez-Gamboa et al., 2014; Händel et al., 1999; Rieke et al., 1987).”
Background
Metadata
- Authors
- Guemez-Gamboa, A., Coufal, N. G., & Gleeson, J. G.
- Affiliations
- Howard Hughes Medical Institute (US)
- Corresponding author
- Gleeson, Joseph G.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2014-05
- Volume
- 82
- Issue
- 3
- Pages
- 511-521
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC4104280
- OpenAlex
- W2074800621
- Cited by
- 296
- References
- 99
- Citations by year
- 2026: 22 · 2025: 29 · 2024: 21 · 2023: 26 · 2022: 27 · 2021: 22 · 2020: 28 · 2019: 34 · 2018: 17 · 2017: 21 · 2016: 23 · 2015: 22 · 2014: 4
- FWCI
- 3.09
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- University of California Institute for Mexico and the United States
- National Institute of Neurological Disorders and Stroke (R13NS053097, 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
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Keywords
- primary cilia, brain development, neuronal polarity, extracellular signaling, neuronal cell fate, neuronal migration, neuronal differentiation
- MeSH terms
- Animals, Brain, Brain Diseases, Cell Movement, Cilia, Humans, Signal Transduction, Cell Polarity
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