CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

doi:10.1016/j.ajhg.2014.08.005

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Article

CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.

American journal of human genetics - 4 Sept 2014

Hjeij Rim, Onoufriadis Alexandros, Watson Christopher M, Slagle Christopher E, Klena Nikolai T, Dougherty Gerard W, Kurkowiak Małgorzata, Loges Niki T, Diggle Christine P, Morante Nicholas F C, Gabriel George C, Lemke Kristi L, Li You, Pennekamp Petra, Menchen Tabea, Konert Franziska, Marthin June Kehlet, Mans Dorus A, Letteboer Stef J F, Werner Claudius, Burgoyne Thomas, Westermann Cordula, Rutman Andrew, Carr Ian M, O'Callaghan Christopher, Moya Eduardo, Chung Eddie M K, Sheridan Eamonn, Nielsen Kim G, Roepman Ronald, Bartscherer Kerstin, Burdine Rebecca D, Lo Cecilia W, Omran Heymut, Mitchison Hannah M

Abstract excerpt

A diverse family of cytoskeletal dynein motors powers various cellular transport systems, including axonemal dyneins generating the force for ciliary and flagellar beating essential to movement of extracellular fluids and of cells through fluid. Multisubunit outer dynein arm (ODA) motor complexes, produced and preassembled in the cytosol, are transported to the ciliary or flagellar compartment and anchored into...

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PMID: 25192045
DOI: 10.1016/j.ajhg.2014.08.005
PMCID: PMC4157146

Genes

DNAH5

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CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation.PMID 25192045Read ↗

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