Mutation of CFAP57 causes primary ciliary dyskinesia by disrupting theasymmetric targeting of a subset of ciliary inner dynein arms
Ximena Minerva Bustamante-Marin, Amjad Horani, Mihaela Stoyanova, Wu‐Lin Charng, Mathieu Bottier, Patrick R. Sears, Weining Yin, M. Leigh Anne Daniels, Hailey Bowen, Donald F. Conrad, Michael R. Knowles, Lawrence E. Ostrowski, Maimoona A. Zariwala, Susan K. Dutcher
This study identifies mutations in CFAP57 as a cause of primary ciliary dyskinesia by showing they disrupt asymmetric inner dynein arm assembly in cilia.
PLoS Genetics · Aug 7, 2020Peer-reviewedGenetics