ArticleCell reports2018
Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.
Article in Cell reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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Who cites it
12 citing papers in PubMed, 22 citations in OpenAlex.
- A human CEP120 gene variant impairs meiotic spindle building causing aneuploidy†.Biology of reproduction · 2026Article
- Critical constituents and assembly principles of centriole biogenesis in human cells.Nature reviews. Molecular cell biology · 2026Review
- Further evidence ofJournal of medical genetics · 2025Article
- Cep120 is essential for kidney stromal progenitor cell growth and differentiation.EMBO reports · 2024Article
- Aberrant centrosome biogenesis disrupts nephron and collecting duct progenitor growth and fate resulting in fibrocystic kidney disease.Development (Cambridge, England) · 2023Article
- Centrosome-dependent microtubule modifications set the conditions for axon formation.Cell reports · 2022Article
- C2cd6-encoded CatSperτ targets sperm calcium channel to CaCell reports · 2022Article
- Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.Structure (London, England : 1993) · 2022Article
- Exome sequencing links CEP120 mutation to maternally derived aneuploid conception risk.Human reproduction (Oxford, England) · 2020Article
- A Proximity Mapping Journey into the Biology of the Mammalian Centrosome/Cilium Complex.Cells · 2020Review
- Centriolar satellites are acentriolar assemblies of centrosomal proteins.The EMBO journal · 2019Article
- CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.Scientific reports · 2019Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Ciliopathies are a group of genetic disorders caused by a failure to form functional cilia. Due to a lack of structural information, it is currently poorly understood how ciliopathic mutations affect protein functionality to give rise to the underlying disease. Using X-ray crystallography, we show that the ciliopathy-associated centriolar protein CEP120 contains three C2 domains. The point mutations V194A and A199P, which cause Joubert syndrome (JS) and Jeune asphyxiating thoracic dystrophy (JATD), respectively, both reduce the thermostability of the second C2 domain by targeting residues that point toward its hydrophobic core. Genome-engineered cells homozygous for these mutations have largely normal centriole numbers but show reduced CEP120 levels, compromised recruitment of distal centriole markers, and deficient cilia formation. Our results provide insight into the disease mechanism of two ciliopathic mutations in CEP120, identify putative binding partners of CEP120 C2B, and suggest a complex genotype-phenotype relation of the CEP120 ciliopathy alleles.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.