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Primary cilia in neurodevelopmental disorders

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Valente, Enza Maria, Rosti, Rasim O., Gibbs, Elizabeth, Gleeson, Joseph G.·2014·Nature Reviews Neurology
DOI 10.1038/nrneurol.2013.247PMC PMC3989897
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Abstract

Primary cilia are generally solitary organelles that emanate from the surface of almost all vertebrate cell types. Until recently, details regarding the function of these structures were lacking; however, extensive evidence now suggests that primary cilia have critical roles in sensing the extracellular environment, and in coordinating developmental and homeostatic signalling pathways. Furthermore, disruption of these functions seems to underlie a diverse spectrum of disorders, known as primary ciliopathies. These disorders are characterized by wide-ranging clinical and genetic heterogeneity, but with substantial overlap among distinct conditions. Indeed, ciliopathies are associated with a large variety of manifestations that often include distinctive neurological findings. Herein, we review neurological features associated with primary ciliopathies, highlight genotype-phenotype correlations, and discuss potential mechanisms underlying these findings.

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  • IFT88 is essential for primary cilium formation and maintenance, and its downregulation causes primary cilium loss or shortening.

    “IFT88 is essential for primary cilium formation and maintenance, and its downregulation has been known to cause primary cilium loss or shortening (Fliegauf et al. 2007; Valente et al. 2014).”

    From Astrocyte-specific inhibition of the primary cilium suppresses C3 expression in reactive astrocyte (2024) · cites this paper as Valente et al. 2014

    The Ciliary structure–disease relationships section says that establishing and maintaining primary cilia depends heavily on intraflagellar transport (IFT). It does not identify IFT88 specifically or report that downregulating it causes cilium loss or shortening; searches for IFT88 and downregulation found no such passage in our copy. (LLM, conf=0.84)

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Authors
Valente, E. M., Rosti, R. O., Gibbs, E., & Gleeson, J. G.
Affiliations
  • Casa Sollievo della Sofferenza (IT)
  • Howard Hughes Medical Institute (US)
Corresponding author
Gleeson, Joseph G.
ORCID
Venue
Nature Reviews Neurology
Publisher
Springer Science and Business Media LLC
Published
2013-12-03
Volume
10
Issue
1
Pages
27-36
ISSN
  • 1759-4758 (ISSN-L)
  • 1759-4766
DOI
10.1038/nrneurol.2013.247
PMC
PMC3989897
OpenAlex
W2046743827
Cited by
254
References
6
Citations by year
2026: 22 · 2025: 28 · 2024: 16 · 2023: 28 · 2022: 17 · 2021: 15 · 2020: 21 · 2019: 15 · 2018: 16 · 2017: 16 · 2016: 26 · 2015: 22 · 2014: 12
FWCI
2.43
Type
journal article
Language
en
Open access
Licence
www.springer.com/tdm (tdm)
Locations
  • Nature Reviews 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)
  • National Institute of Arthritis and Musculoskeletal and Skin Diseases (T32AR059033)
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 › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords
primary cilia, ciliopathies, neurodevelopmental disorders, brain malformations, genotype-phenotype correlation, neurological features, signaling pathways, pathogenesis
MeSH terms
Central Nervous System Diseases, Developmental Disabilities, Cilia, Humans, Neurons

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