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Article

Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.

Molecular biology of the cell - 1 Aug 2022

Ishida Yamato, Tasaki Koshi, Katoh Yohei, Nakayama Kazuhisa

Abstract excerpt

Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) machinery, which contains the IFT-A and IFT-B complexes powered by the kinesin-2 and dynein-2 motors. Mutations in genes encoding subunits of the IFT-A and dynein-2 complexes cause skeletal ciliopathies. Some subunits of the IFT-B complex, including IFT52, IFT80, and IFT172, are also mutated in skeletal ciliopathies....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 35704471
DOI: 10.1091/mbc.E22-05-0188
PMCID: PMC9582644

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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Molecular basis underlying the ciliary defects caused by IFT52 variations found in skeletal ciliopathies.PMID 35704471Read ↗

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Architecture of the IFT ciliary trafficking machinery and interplay between its componentsSemantic proximity Read ↗

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A homozygous nonsense variant in IFT52 is associated with a human skeletal ciliopathy.Semantic proximity Read ↗

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype.Semantic proximity Read ↗

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Research Progress on the Pathogenesis and Diagnostic and Therapeutic Potential of Ciliopathies Regulated by IFT172.Semantic proximity Read ↗

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