Article

<i>IFT74</i>variants cause skeletal ciliopathy and motile cilia defects in mice and humans

2023-02-26

Abstract excerpt

Motile and non-motile cilia are critical to mammalian development and health. Assembly of these organelles depends on proteins synthesized in the cell body and transported into the cilium by intraflagellar transport (IFT). A series of human and mouse IFT74 variants were studied to understand the function of this IFT subunit. Humans missing exon 2, which codes for the first 40 residues, presented an unusual combina...

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Literature Corpus work: 1f6237ce-ef31-5543-b1cd-f3f5b578c734
DOI: 10.1101/2023.02.23.23286106

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