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

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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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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
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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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