Combinations of deletion and missense variations of the dynein-2 DYNC2LI1 subunit found in skeletal ciliopathies cause ciliary defects
Abstract Cilia play crucial roles in sensing and transducing extracellular signals. Bidirectional protein trafficking within cilia is mediated by the intraflagellar transport (IFT) machinery containing IFT-A and IFT-B complexes, with the aid of kinesin-2 and dynein-2 motors. The dynein-2 complex dri...
Main Authors: | , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Portfolio
2022-01-01
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Series: | Scientific Reports |
Online Access: | https://doi.org/10.1038/s41598-021-03950-0 |