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Article

Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.

Human molecular genetics - 1 Feb 2018

Takahara Mariko, Katoh Yohei, Nakamura Kentaro, Hirano Tomoaki, Sugawa Maho, Tsurumi Yuta, Nakayama Kazuhisa

Abstract excerpt

The intraflagellar transport (IFT) machinery containing the IFT-A and IFT-B complexes mediates ciliary protein trafficking. Mutations in the genes encoding the six subunits of the IFT-A complex (IFT43, IFT121, IFT122, IFT139, IFT140, and IFT144) are known to cause skeletal ciliopathies, including cranioectodermal dysplasia (CED). As the IFT122 subunit connects the core and peripheral subcomplexes of the IFT-A...

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PMID: 29220510
DOI: 10.1093/hmg/ddx421

Genes

IFT43

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Ciliopathy-associated mutations of IFT122 impair ciliary protein trafficking but not ciliogenesis.PMID 29220510Read ↗

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