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Primary Cilia in the Nervous System: Structure, Function and Disease...
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Primary Cilia in the Nervous System: Structure, Function and Disease Mechanisms

A special issue of Cells (ISSN 2073-4409). This special issue belongs to the section "Intracellular and Plasma Membranes".

Deadline for manuscript submissions: closed (28 February 2023) | Viewed by 17715

Special Issue Editors

Dr. Oliver E. Blacque

E-Mail Website
Guest Editor
School of Biomolecular and Biomedical Science, University College Dublin, Dublin, Ireland
Interests: cilia formation and function; ciliopathy mechanisms; intraflagellar transport; ciliary membrane trafficking; ciliary gating; C. elegans; live imaging; gene editing
Dr. Sylvie Schneider-Maunoury

E-Mail Website
Guest Editor
Director of the Developmental Biology Unit, Institut de Biologie Paris Seine (IBPS), CNRS UMR7622, INSERM U1156, Sorbonne Université, 75005 Paris, France
Interests: neural development; brain patterning; brain morphogenesis; neurogenesis; neural stem cells; cilia; planar cell polarity; hedgehog pathway; mouse; zebrafish; ciliopathies

Special Issue Information

Dear Colleagues,

Primary cilia are near-ubiquitous organelles, extending from the surface of most eukaryotic cell types. These typically hair-like structures act as cellular antennae to receive and transduce many types of extracellular signals including physico-chemico sensory stimuli and extrinsic ligands that regulate cell specification and behaviour. Disruption of primary cilia results in inherited ciliary disorders, collectively termed the ciliopathies. Although knowledge of primary cilia in many different tissues and organs has rapidly advanced, somewhat surprisingly, their role in the nervous system and especially the brain has been lacking. However, this is beginning to change. We now know that most neural progenitors, neurons, and glial cells, including those of the CNS, express a primary cilium. Furthermore, an increasing number of studies are revealing regulatory roles for primary cilia in neurodevelopmental processes such as neuronal cell specification, genesis, migration, axon guidance, synapse formation, and signaling. In addition, studies investigating the role of primary cilia in the adult CNS are starting to emerge.

This special issue invites original research and review papers that focus on primary cilia in the nervous system. The scope of the issue is broad, and papers can cover any aspect of cilia structure/function in cells of the peripheral/sensory or central nervous systems, within animal (invertebrate or vertebrate), or cell/tissue culture contexts. We also welcome submissions addressing disease mechanisms and therapeutic investigations focused on ciliopathies with nervous system involvement.

Dr. Oliver E. Blacque
Dr. Sylvie Schneider-Maunoury
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cells is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2700 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • primary cilia
  • central and peripheral nervous system
  • neurodevelopment
  • sensory transduction
  • neuronal signalling
  • cell genesis and specification
  • cell migration
  • neurite outgrowth and guidance
  • synapse formation and maturation
  • neurological ciliopathies
  • neurodegeneration
  • neural stem and progenitor cells
  • glial cells
  • invertebrate and vertebrate models
  • cell/tissue culture

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Published Papers (4 papers)

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Research

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22 pages, 43539 KiB  
Article
PDE6D Mediates Trafficking of Prenylated Proteins NIM1K and UBL3 to Primary Cilia
by Siebren Faber, Stef J. F. Letteboer, Katrin Junger, Rossano Butcher, Trinadh V. Satish Tammana, Sylvia E. C. van Beersum, Marius Ueffing, Rob W. J. Collin, Qin Liu, Karsten Boldt and Ronald Roepman
Cells 2023, 12(2), 312; https://doi.org/10.3390/cells12020312 - 13 Jan 2023
Cited by 5 | Viewed by 3508
Abstract
Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In this study, we purified the prenylated cargo of PDE6D [...] Read more.
Mutations in PDE6D impair the function of its cognate protein, phosphodiesterase 6D (PDE6D), in prenylated protein trafficking towards the ciliary membrane, causing the human ciliopathy Joubert Syndrome (JBTS22) and retinal degeneration in mice. In this study, we purified the prenylated cargo of PDE6D by affinity proteomics to gain insight into PDE6D-associated disease mechanisms. By this approach, we have identified a specific set of PDE6D-interacting proteins that are involved in photoreceptor integrity, GTPase activity, nuclear import, or ubiquitination. Among these interacting proteins, we identified novel ciliary cargo proteins of PDE6D, including FAM219A, serine/threonine-protein kinase NIM1 (NIM1K), and ubiquitin-like protein 3 (UBL3). We show that NIM1K and UBL3 localize inside the cilium in a prenylation-dependent manner. Furthermore, UBL3 also localizes in vesicle-like structures around the base of the cilium. Through affinity proteomics of UBL3, we confirmed its strong interaction with PDE6D and its association with proteins that regulate small extracellular vesicles (sEVs) and ciliogenesis. Moreover, we show that UBL3 localizes in specific photoreceptor cilium compartments in a prenylation-dependent manner. Therefore, we propose that UBL3 may play a role in the sorting of proteins towards the photoreceptor outer segment, further explaining the development of PDE6D-associated retinal degeneration. Full article
(This article belongs to the Special Issue Primary Cilia in the Nervous System: Structure, Function and Disease Mechanisms)
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Review

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13 pages, 1359 KiB  
Review
The Primary Cilium and Neuronal Migration
by Julie Stoufflet and Isabelle Caillé
Cells 2022, 11(21), 3384; https://doi.org/10.3390/cells11213384 - 26 Oct 2022
Cited by 10 | Viewed by 3857
Abstract
The primary cilium (PC) is a microtubule-based tiny sensory organelle emanating from the centrosome and protruding from the surface of most eukaryotic cells, including neurons. The extremely severe phenotypes of ciliopathies have suggested their paramount importance for multiple developmental events, including brain formation. [...] Read more.
The primary cilium (PC) is a microtubule-based tiny sensory organelle emanating from the centrosome and protruding from the surface of most eukaryotic cells, including neurons. The extremely severe phenotypes of ciliopathies have suggested their paramount importance for multiple developmental events, including brain formation. Neuronal migration is an essential step of neural development, with all neurons traveling from their site of birth to their site of integration. Neurons perform a unique type of cellular migration called cyclic saltatory migration, where their soma periodically jumps along with the stereotyped movement of their centrosome. We will review here how the role of the PC on cell motility was first described in non-neuronal cells as a guide pointing to the direction of migration. We will see then how these findings are extended to neuronal migration. In neurons, the PC appears to regulate the rhythm of cyclic saltatory neuronal migration in multiple systems. Finally, we will review recent findings starting to elucidate how extracellular cues sensed by the PC could be intracellularly transduced to regulate the machinery of neuronal migration. The PC of migrating neurons was unexpectedly discovered to display a rhythmic extracellular emergence during each cycle of migration, with this transient exposure to the external environment associated with periodic transduction of cyclic adenosine monophosphate (cAMP) signaling at the centrosome. The PC in migrating neurons thus uniquely appears as a beat maker, regulating the tempo of cyclic saltatory migration. Full article
(This article belongs to the Special Issue Primary Cilia in the Nervous System: Structure, Function and Disease Mechanisms)
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30 pages, 2064 KiB  
Review
Primary Cilia Influence Progenitor Function during Cortical Development
by Donia Zaidi, Kaviya Chinnappa and Fiona Francis
Cells 2022, 11(18), 2895; https://doi.org/10.3390/cells11182895 - 16 Sep 2022
Cited by 11 | Viewed by 4915
Abstract
Corticogenesis is an intricate process controlled temporally and spatially by many intrinsic and extrinsic factors. Alterations during this important process can lead to severe cortical malformations. Apical neuronal progenitors are essential cells able to self-amplify and also generate basal progenitors and/or neurons. Apical [...] Read more.
Corticogenesis is an intricate process controlled temporally and spatially by many intrinsic and extrinsic factors. Alterations during this important process can lead to severe cortical malformations. Apical neuronal progenitors are essential cells able to self-amplify and also generate basal progenitors and/or neurons. Apical radial glia (aRG) are neuronal progenitors with a unique morphology. They have a long basal process acting as a support for neuronal migration to the cortical plate and a short apical process directed towards the ventricle from which protrudes a primary cilium. This antenna-like structure allows aRG to sense cues from the embryonic cerebrospinal fluid (eCSF) helping to maintain cell shape and to influence several key functions of aRG such as proliferation and differentiation. Centrosomes, major microtubule organising centres, are crucial for cilia formation. In this review, we focus on how primary cilia influence aRG function during cortical development and pathologies which may arise due to defects in this structure. Reporting and cataloguing a number of ciliary mutant models, we discuss the importance of primary cilia for aRG function and cortical development. Full article
(This article belongs to the Special Issue Primary Cilia in the Nervous System: Structure, Function and Disease Mechanisms)
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25 pages, 2946 KiB  
Review
Mechanisms of Regulation in Intraflagellar Transport
by Wouter Mul, Aniruddha Mitra and Erwin J. G. Peterman
Cells 2022, 11(17), 2737; https://doi.org/10.3390/cells11172737 - 2 Sep 2022
Cited by 18 | Viewed by 3950
Abstract
Cilia are eukaryotic organelles essential for movement, signaling or sensing. Primary cilia act as antennae to sense a cell’s environment and are involved in a wide range of signaling pathways essential for development. Motile cilia drive cell locomotion or liquid flow around the [...] Read more.
Cilia are eukaryotic organelles essential for movement, signaling or sensing. Primary cilia act as antennae to sense a cell’s environment and are involved in a wide range of signaling pathways essential for development. Motile cilia drive cell locomotion or liquid flow around the cell. Proper functioning of both types of cilia requires a highly orchestrated bi-directional transport system, intraflagellar transport (IFT), which is driven by motor proteins, kinesin-2 and IFT dynein. In this review, we explore how IFT is regulated in cilia, focusing from three different perspectives on the issue. First, we reflect on how the motor track, the microtubule-based axoneme, affects IFT. Second, we focus on the motor proteins, considering the role motor action, cooperation and motor-train interaction plays in the regulation of IFT. Third, we discuss the role of kinases in the regulation of the motor proteins. Our goal is to provide mechanistic insights in IFT regulation in cilia and to suggest directions of future research. Full article
(This article belongs to the Special Issue Primary Cilia in the Nervous System: Structure, Function and Disease Mechanisms)
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