Article
The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans.
Nature genetics - 1 Mar 2013
Wirschell Maureen, Olbrich Heike, Werner Claudius, Tritschler Douglas, Bower Raqual, Sale Winfield S, Loges Niki T, Pennekamp Petra, Lindberg Sven, Stenram Unne, Carlén Birgitta, Horak Elisabeth, Köhler Gabriele, Nürnberg Peter, Nürnberg Gudrun, Porter Mary E, Omran Heymut
Abstract excerpt
Primary ciliary dyskinesia (PCD) is characterized by dysfunction of respiratory cilia and sperm flagella and random determination of visceral asymmetry. Here, we identify the DRC1 subunit of the nexin-dynein regulatory complex (N-DRC), an axonemal structure critical for the regulation of dynein motors, and show that mutations in the gene encoding DRC1, CCDC164, are involved in PCD pathogenesis. Loss-of-function...
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