Cited by 1,588Genetic and Kidney Cyst DiseasesCystic Fibrosis Research AdvancesHereditary Neurological Disorders

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Genes and molecular pathways underpinning ciliopathies

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Reiter, Jeremy F., Leroux, Michel R.·2017·Nature Reviews Molecular Cell Biology

DOI 10.1038/nrm.2017.60PMC PMC5851292

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Abstract

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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Authors: Reiter, J. F., & Leroux, M. R.
Affiliations: University of California, San Francisco (US)
Simon Fraser University (CA)
Corresponding author: Leroux, Michel R.
ORCID: Reiter, Jeremy F.
Leroux, Michel R.
Venue: Nature Reviews Molecular Cell Biology
Publisher: Springer Science and Business Media LLC
Published: 2017-07-12
Volume: 18
Issue: 9
Pages: 533-547
ISSN: 1471-0072 (ISSN-L)
1471-0080
DOI: 10.1038/nrm.2017.60
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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