Genes and molecular pathways underpinning ciliopathies
By Jeremy F. Reiter, M. Leroux. Nature reviews. Molecular cell biology, 2017
1,360 citations recorded by the source corpus.
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.
Subfields: Genetics, Molecular Biology
View Paper: https://www.semanticscholar.org/paper/2ccb3cd98dbf5ba3e7b867dfe1144eaf3ad81c31
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Citations in the corpus
- Integrative modeling reveals the molecular architecture of the intraflagellar transport A (IFT-A) complex (2022, background): “Accordingly, ciliopathies are a broad class of human disorders arising from dysfunction in cilia and affecting almost all organ systems (6).”
- Non‐syndromic retinitis pigmentosa (2018, neutral): “Given the nearly ubiquitous presence of cilia throughout the body, mutations in genes encoding ciliary proteins can lead to so-called ciliopathies, which often involve a syndromic phenotype with multiple affected organs and cellular processes (Hildebrandt et al., 2011; Reiter and Leroux, 2017).”