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Genes and molecular pathways underpinning ciliopathies
Open accessAbstract
Motile and non-motile (primary) cilia are nearly ubiquitous cellular organelles. The dysfunction of cilia causes diseases known as ciliopathies. The number of reported ciliopathies (currently 35) is increasing, as is the number of established (187) and candidate (241) ciliopathy-associated genes. The characterization of ciliopathy-associated proteins and phenotypes has improved our knowledge of ciliary functions. In particular, investigating ciliopathies has helped us to understand the molecular mechanisms by which the cilium-associated basal body functions in early ciliogenesis, as well as how the transition zone functions in ciliary gating, and how intraflagellar transport enables cargo trafficking and signalling. Both basic biological and clinical studies are uncovering novel ciliopathies and the ciliary proteins involved. The assignment of these proteins to different ciliary structures, processes and ciliopathy subclasses (first order and second order) provides insights into how this versatile organelle is built, compartmentalized and functions in diverse ways that are essential for human health.
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“In conclusion, our work challenges the prevailing view that functional defects in either motile or non-motile cilia stem from mutations in distinct groups of proteins and cause clinically separable disorders12,13.”
From The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision (2022) · cites this paper as [12]
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“Retinal dystrophy represents a common clinical phenotype in several non-motile ciliopathies12,73,74.”
From The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision (2022) · cites this paper as [12]
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Self-citation
Metadata
- Authors
- Reiter, J. F., & Leroux, M. R.
- Affiliations
- University of California, San Francisco (US)
- Simon Fraser University (CA)
- Corresponding author
- Leroux, Michel R.
- Venue
- Nature Reviews Molecular Cell Biology
- Published
- 2017-07-12
- Volume
- 18
- Issue
- 9
- Pages
- 533-547
- ISSN
- 1471-0072 (ISSN-L)
- 1471-0080
- PMC
- PMC5851292
- OpenAlex
- W2734540391
- Cited by
- 1,588
- References
- 202
- Citations by year
- 2026: 127 · 2025: 212 · 2024: 198 · 2023: 219 · 2022: 199 · 2021: 201 · 2020: 178 · 2019: 134 · 2018: 103 · 2017: 15
- FWCI
- 15.08
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Reviews Molecular Cell Biology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- Michael Smith Health Research BC
- National Institutes of Health
- Canadian Institutes of Health Research
- National Institute of General Medical Sciences (R01GM095941)
- National Institute of Diabetes and Digestive and Kidney Diseases (P30DK098722, R01DK106404)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR054396)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD089918)
- 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
- ciliopathies, primary cilia, motile cilia, ciliogenesis, basal bodies, ciliary transition zone, intraflagellar transport
- MeSH terms
- Ciliopathies, Animals, Cilia, Humans, Microtubule-Associated Proteins, Signal Transduction, Basal Bodies
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