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Book ; Online ; E-Book: Cilia

Bravo-San Pedro, José Manuel / Galluzzi, Lorenzo

From Mechanisms to Disease - Part B

(Methods in cell biology, ; Volume 176)

2022

Abstract: ... aspects of ciliary function Provides an approach to the study of some diseases related to ciliary ... Cilia: From Mechanisms to Disease Part B, Volume 176 of the Methods in Cell Biology series ... LUHMES and NES cells as models for studying primary cilia in neurons, Fixation methods and immunolabeling ...

Author's details	edited by Jose Manuel Bravo-San Pedro and Lorenzo Galluzzi
Series title	Methods in cell biology, ; Volume 176
Abstract	Cilia: From Mechanisms to Disease Part B, Volume 176 of the Methods in Cell Biology series, presents interesting chapters on topics such as The challenge of dissecting gene function in model organisms: tools to characterize genetic mutants and assess transcriptional adaptation in zebrafish, Human LUHMES and NES cells as models for studying primary cilia in neurons, Fixation methods and immunolabeling for cilia proteins in ciliary and extraciliary locations, Single-molecule imaging in the primary cilium, Methods to analyze primary cilia in mouse cardiac lesion model, Methods to study motile ciliated cell types in a zebrafish brain mode, and more. Other sections cover Clinical and Molecular diagnosis in BBS (Bardet-Biedl syndrome), Modeling ciliopathies in patient-derived primary cells, Analysis of motility and mucociliary function of tracheal epithelial cilia, High-speed Super-resolution SPEED Microscopy to study Live Primary Cilium, Methods for siRNA delivery in retina explants, Methods to study primary cilia and autophagy in the brain, and more. Offers a detailed overview of the protocols used to study cilia structure and various aspects of ciliary function Provides an approach to the study of some diseases related to ciliary dysfunction, also known as ciliopathies Written in an accessible style by renowned experts in the field.
Keywords	Cilia and ciliary motion
Subject code	571.67
Language	English
Dates of publication	2022-2023
Size	1 online resource (xix, 250 pages) :, illustrations (color and black and white).
Edition	1st ed.
Publisher	Academic Press
Publishing place	Cambridge
Document type	Book ; Online ; E-Book
Remark	Zugriff für angemeldete ZB MED-Nutzerinnen und -Nutzer
ISBN	0-443-18589-1 ; 0-443-18588-3 ; 978-0-443-18589-2 ; 978-0-443-18588-5
Database	ZB MED Catalogue: Medicine, Health, Nutrition, Environment, Agriculture

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Article ; Online: Cilia-related diseases.

Ren, Zhanhong / Mao, Xiaoxiao / Wang, Siqi / Wang, Xin

Journal of cellular and molecular medicine

2023 Volume 27, Issue 24, Page(s) 3974–3979

Abstract: ... which are caused by the abnormal morphogenesis of cilia. These cilia-related diseases are divided into two ... by functional dysregulation of motile cilia. Cilia are widely distributed, and their related diseases can cover ... homeostasis in the cardiovascular system. However, molecular mechanisms of cilia-related diseases remain ...

Abstract	More and more attention is paid to diseases such as internal transfer and brain malformation which are caused by the abnormal morphogenesis of cilia. These cilia-related diseases are divided into two categories: ciliopathy resulting from defects of primary cilia and primary ciliary dyskinesia (PCD) caused by functional dysregulation of motile cilia. Cilia are widely distributed, and their related diseases can cover many human organs and tissues. Recent studies prove that primary cilia play a key role in maintaining homeostasis in the cardiovascular system. However, molecular mechanisms of cilia-related diseases remain elusive. Here, we reviewed recent research progresses on characteristics, molecular mechanisms and treatment methods of ciliopathy and PCD. Our review is beneficial to the further research on the pathogenesis and treatment strategies of cilia-related diseases.
MeSH term(s)	Humans ; Cilia/pathology ; Ciliary Motility Disorders/genetics ; Ciliopathies/genetics ; Ciliopathies/pathology ; Mutation
Language	English
Publishing date	2023-10-13
Publishing country	England
Document type	Journal Article ; Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2074559-X
ISSN	1582-4934 ; 1582-4934 ; 1582-1838
ISSN (online)	1582-4934
ISSN	1582-4934 ; 1582-1838
DOI	10.1111/jcmm.17990
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Book ; Online: Cilia

King, Stephen M / Pazour, Gregory J

structure and motility

(Methods in cell biology ; v. 91)

2009

Abstract: ... withnbsp,anbsp,comprehensive and up-to-date sourcenbsp,ofnbsp,methods for the analysis cilia and flagella ... addition to the study of cilia and flagella. * Covers protocols for cilia and flagella across systems and ... other syndromes, who need to learn biochemical, molecular, and genetic approaches to studying cilia, flagella, and ...

Author's details	edited by Stephen M. King, Gregory J. Pazour
Series title	Methods in cell biology ; v. 91
Abstract	Along with its companion volume on intraflagellar transport,nbsp,this book provides researchers withnbsp,anbsp,comprehensive and up-to-date sourcenbsp,ofnbsp,methods for the analysis cilia and flagella, nbsp,focusing primarily on approaches that have been devised or significantly extended since the last volume of Methods in Cell Biology on this topic (volume 47, 1995). Edited by Stephen M. King and Gregory J. Pazour, the newest installment of this highly acclaimed serial will serve as an essential addition to the study of cilia and flagella. * Covers protocols for cilia and flagella across systems and species * Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time * Relevant to clinicians interested in respiratory disease, male infertility, and other syndromes, who need to learn biochemical, molecular, and genetic approaches to studying cilia, flagella, and related structures
MeSH term(s)	Cell Movement ; Cilia ; Cilia/physiology
Keywords	Cells/Motility ; Cilia and ciliary motion ; Structure-activity relationships (Biochemistry) ; Psychologie / Pädagogik # Entwicklungspsychologie ; Technik / Wissen # Biologie
Language	English
Size	Online-Ressource (XII, 332 S., [16] Tafeln], Ill., 25 cm
Publisher	Academic Press
Publishing place	Amsterdam
Document type	Book ; Online
Note	Includes bibliographical references and index
ISBN	9780123749734 ; 0123749735
Database	Former special subject collection: coastal and deep sea fishing

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Book ; Online: Cilia

King, Stephen M / Pazour, Gregory J

Motors and Regulation

(Methods in cell biology ; v. 92)

2009

Abstract: ... researchers withnbsp,anbsp,comprehensive and up-to-date sourcenbsp,ofnbsp,methods for the analysis cilia and ... addition to the study of cilia and flagella. * Covers protocols for cilia and flagella across systems and ... other syndromes, who need to learn biochemical, molecular, and genetic approaches to studying cilia, flagella, and ...

Series title	Methods in cell biology ; v. 92
Abstract	Along with its companion volume on axonemal dynein-mediated motility,nbsp,this book provides researchers withnbsp,anbsp,comprehensive and up-to-date sourcenbsp,ofnbsp,methods for the analysis cilia and flagella, nbsp,focusing primarily on approaches that have been devised or significantly extended since the last volume of Methods in Cell Biology on this topic (volume 47, 1995). Edited by Stephen M. King and Gregory J. Pazour, the newest installment of this highly acclaimed serial will serve as an essential addition to the study of cilia and flagella. * Covers protocols for cilia and flagella across systems and species * Both classic and state-of-the-art methods readily adaptable across model systems, and designed to last the test of time * Relevant to clinicians interested in respiratory disease, male infertility, and other syndromes, who need to learn biochemical, molecular, and genetic approaches to studying cilia, flagella, and related structures
Keywords	Cells/Motility ; Cilia and ciliary motion ; Technik / Wissen # Biologie
Language	English
Size	Online-Ressource
Edition	1. Aufl.
Publisher	Elsevier textbooks
Publishing place	s.l.
Document type	Book ; Online
Note	Includes bibliographical references and index
ISBN	0123749743 ; 9780123749741
Database	Former special subject collection: coastal and deep sea fishing

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Article: [Targeting the ubiquitin system for treatment of cilia-related diseases].

Nishimura, Yuhei / Inagaki, Masaki

Nihon yakurigaku zasshi. Folia pharmacologica Japonica

2020 Volume 156, Issue 1, Page(s) 4–8

Abstract: ... differentiation. Impairment of primary cilia is associated with many diseases, including cancer and ciliopathy ... targets for these diseases through regulation of primary cilia formation. ... system on cilia-related disorders and discuss the possibility of the ubiquitin system as therapeutic ...

Abstract	The ubiquitin system regulates a wide variety of cellular functions. Not surprisingly, dysregulation of the ubiquitin system is associated with various disorders. Therefore, drugs that can modulate the functions of the ubiquitin system have been actively developed to treat these disorders. Chemical knockdown of pathogenic proteins using the ubiquitin-proteasome system is also a promising approach. The ubiquitin system regulates the assemble and disassemble of primary cilia through balanced control over the ubiquitination and deubiquitination of ciliary proteins. Primary cilia are antenna-like structures present in many vertebrate cells that sense and transduce extracellular cues to control cellular processes such as proliferation and differentiation. Impairment of primary cilia is associated with many diseases, including cancer and ciliopathy, a group of multisystem developmental disorders. In this review, we focus on the role of the ubiquitin system on cilia-related disorders and discuss the possibility of the ubiquitin system as therapeutic targets for these diseases through regulation of primary cilia formation.
MeSH term(s)	Cilia ; Ciliopathies/drug therapy ; Ciliopathies/metabolism ; Humans ; Proteasome Endopeptidase Complex/metabolism ; Ubiquitin/metabolism ; Ubiquitination
Chemical Substances	Ubiquitin ; Proteasome Endopeptidase Complex (EC 3.4.25.1)
Language	Japanese
Publishing date	2020-12-01
Publishing country	Japan
Document type	Journal Article ; Review
ZDB-ID	1097532-9
ISSN	1347-8397 ; 0015-5691
ISSN (online)	1347-8397
ISSN	0015-5691
DOI	10.1254/fpj.20072
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Article ; Online: Uncovering cilia function in glial development.

Bear, Rachel M / Caspary, Tamara

Annals of human genetics

2023 Volume 88, Issue 1, Page(s) 27–44

Abstract: ... contributes to neurological disease; however, the relationship between cilia function and glial development is ... Primary cilia play critical roles in regulating signaling pathways that underlie ... several developmental processes. In the nervous system, cilia are known to regulate signals that guide neuron development. Cilia ...

Abstract	Primary cilia play critical roles in regulating signaling pathways that underlie several developmental processes. In the nervous system, cilia are known to regulate signals that guide neuron development. Cilia dysregulation is implicated in neurological diseases, and the underlying mechanisms remain poorly understood. Cilia research has predominantly focused on neurons and has overlooked the diverse population of glial cells in the brain. Glial cells play essential roles during neurodevelopment, and their dysfunction contributes to neurological disease; however, the relationship between cilia function and glial development is understudied. Here we review the state of the field and highlight the glial cell types where cilia are found and the ciliary functions that are linked to glial development. This work uncovers the importance of cilia in glial development and raises outstanding questions for the field. We are poised to make progress in understanding the function of glial cilia in human development and their contribution to neurological diseases.
MeSH term(s)	Humans ; Cilia/metabolism ; Neurons/metabolism ; Signal Transduction
Language	English
Publishing date	2023-07-10
Publishing country	England
Document type	Journal Article ; Review ; Research Support, N.I.H., Extramural
ZDB-ID	333-5
ISSN	1469-1809 ; 0003-4800
ISSN (online)	1469-1809
ISSN	0003-4800
DOI	10.1111/ahg.12519
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Article: Structure of Motile Cilia.

Ishikawa, Takashi

Sub-cellular biochemistry

2022 Volume 99, Page(s) 471–494

Abstract: ... related diseases, and sensory cilia. Subnanometer-scale to submillimeter-scale 3D imaging of the axoneme ... ongoing. We also overview topics closely related to the motility mechanism, such as ciliogenesis, cilia ... Cilia are tail-like organelles responsible for motility, transportation, and sensory functions ...

Abstract	Cilia are tail-like organelles responsible for motility, transportation, and sensory functions in eukaryotic cells. Cilia research has been providing multifaceted questions, attracting biologists of various areas and inducing interdisciplinary studies. In this chapter, we mainly focus on efforts to elucidate the molecular mechanism of ciliary beating motion, a field of research that has a long history and is still ongoing. We also overview topics closely related to the motility mechanism, such as ciliogenesis, cilia-related diseases, and sensory cilia. Subnanometer-scale to submillimeter-scale 3D imaging of the axoneme and the basal body resulted in a wide variety of insights into these questions.
MeSH term(s)	Axoneme ; Cilia/chemistry ; Cilia/physiology ; Flagella
Language	English
Publishing date	2022-09-23
Publishing country	United States
Document type	Journal Article
ISSN	0306-0225 ; 0096-8757
ISSN	0306-0225 ; 0096-8757
DOI	10.1007/978-3-031-00793-4_15
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Article ; Online: Rethinking the cilia hypothesis of hydrocephalus.

Duy, Phan Q / Greenberg, Ana B W / Butler, William E / Kahle, Kristopher T

Neurobiology of disease

2022 Volume 175, Page(s) 105913

Abstract: Dysfunction of motile cilia in ependymal cells has been proposed to be a pathogenic cause ... animal evidence that warrants a rethinking of the cilia hypothesis in hydrocephalus. First, we discuss ... neuroembryology and physiology data that do not support a role for ependymal cilia as the primary propeller of CSF ...

Abstract	Dysfunction of motile cilia in ependymal cells has been proposed to be a pathogenic cause of cerebrospinal fluid (CSF) overaccumulation leading to ventricular expansion in hydrocephalus, primarily based on observations of enlarged ventricles in mouse models of primary ciliary dyskinesia. Here, we review human and animal evidence that warrants a rethinking of the cilia hypothesis in hydrocephalus. First, we discuss neuroembryology and physiology data that do not support a role for ependymal cilia as the primary propeller of CSF movement across the ventricles in the human brain, particularly during in utero development prior to the functional maturation of ependymal cilia. Second, we highlight that in contrast to mouse models, motile ciliopathies infrequently cause hydrocephalus in humans. Instead, gene mutations affecting motile cilia function impact not only ependymal cilia but also motile cilia found in other organ systems outside of the brain, causing a clinical syndrome of recurrent respiratory infections and situs inversus, symptoms that do not typically accompany most cases of human hydrocephalus. Finally, we postulate that certain cases of hydrocephalus associated with ciliary gene mutations may arise not necessarily just from loss of cilia-generated CSF flow but also from altered neurodevelopment, given the potential functions of ciliary genes in signaling and neural stem cell fate beyond generating fluid flow. Further investigations are needed to clarify the link between motile cilia, CSF physiology, and brain development, the understanding of which has implications for the care of patients with hydrocephalus and other related neurodevelopmental disorders.
Language	English
Publishing date	2022-10-29
Publishing country	United States
Document type	Journal Article
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2022.105913
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Article ; Online: Regulatory role of primary cilia in oral and maxillofacial development and disease.

Liu, Zhan / Sa, Guoliang / Zhang, Zhuoyu / Wu, Qingwei / Zhou, Jing / Yang, Xuewen

Tissue & cell

2024 Volume 88, Page(s) 102389

Abstract: ... several ideas for the treatment of primary cilia-related diseases. ... craniofacial malformations. For example, mice with mutations in the cilia-related genes Kif3a and IFT88 exhibit ... summarize the regulatory mechanisms of primary cilia in oral and maxillofacial development and related ...

Abstract	Primary cilia have versatile functions, such as receiving signals from the extracellular microenvironment, mediating signaling transduction, and transporting ciliary substances, in tissue and organ development and clinical disease pathogenesis. During early development (embryos within 10 weeks) in the oral and maxillofacial region, defects in the structure and function of primary cilia can result in severe craniofacial malformations. For example, mice with mutations in the cilia-related genes Kif3a and IFT88 exhibit midline expansion and cleft lip/palate, which occur due to abnormalities in the fusion of the single frontonasal prominence and maxillary prominences. In the subsequent development of the oral and maxillofacial region, we discussed the regulatory role of primary cilia in the development of the maxilla, mandible, Meckel cartilage, condylar cartilage, lip, tongue, and tooth, among others. Moreover, primary cilia are promising regulators in some oral and maxillofacial diseases, such as tumors and malocclusion. We also summarize the regulatory mechanisms of primary cilia in oral and maxillofacial development and related diseases, including their role in various signaling transduction pathways. For example, aplasia of submandibular glands in the Kif3a mutant mice is associated with a decrease in SHH signaling within the glands. This review summarizes the similarities and specificities of the role of primary cilia in tissue and organ development and disease progression in the oral and maxillofacial region, which is expected to contribute several ideas for the treatment of primary cilia-related diseases.
Language	English
Publishing date	2024-04-25
Publishing country	Scotland
Document type	Journal Article ; Review
ZDB-ID	204424-9
ISSN	1532-3072 ; 0040-8166
ISSN (online)	1532-3072
ISSN	0040-8166
DOI	10.1016/j.tice.2024.102389
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Article ; Online: Primary cilia shape hallmarks of health and aging.

Silva, Diana Filipa / Cavadas, Cláudia

Trends in molecular medicine

2023 Volume 29, Issue 7, Page(s) 567–579

Abstract: ... or treat age-related diseases. ... Primary cilia are specialized organelles that sense changes in extracellular milieu, and ... their malfunction is responsible for several disorders (ciliopathies). Increasing evidence shows that primary cilia ...

Abstract	Primary cilia are specialized organelles that sense changes in extracellular milieu, and their malfunction is responsible for several disorders (ciliopathies). Increasing evidence shows that primary cilia regulate tissue and cellular aging related features, which led us to review the evidence on their role in potentiating and/or accelerating the aging process. Primary cilia malfunction is associated with some age-related disorders, from cancer to neurodegenerative and metabolic disorders. However, there is limited understanding of molecular pathways underlying primary cilia dysfunction, resulting in scarce ciliary-targeted therapies available. Here, we discuss the findings on primary cilia dysfunction as modulators of the health and aging hallmarks, and the pertinence of ciliary pharmacological targeting to promote healthy aging or treat age-related diseases.
MeSH term(s)	Humans ; Cilia/metabolism ; Ciliopathies/metabolism ; Organelles ; Aging
Language	English
Publishing date	2023-05-01
Publishing country	England
Document type	Journal Article ; Review
ZDB-ID	2036490-8
ISSN	1471-499X ; 1471-4914
ISSN (online)	1471-499X
ISSN	1471-4914
DOI	10.1016/j.molmed.2023.04.001
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