Article

The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture

2024-09-26

Abstract excerpt

Cilia are essential organelles and variants in genes governing ciliary function result in ciliopathic diseases. The Ciliogenesis and PLANar polarity Effectors (CPLANE) protein complex is essential for ciliogenesis in animals models but remains poorly defined. Notably, all but one subunit of the CPLANE complex have been implicated in human ciliopathy. Here, we identify three families in which variants in the remain...

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Literature Corpus work: ddd773d6-dfa0-57ca-bff2-b9e3048379a2
DOI: 10.1101/2024.09.25.614984

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