TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization

• Published in: American journal of human genetics Vol. 99; no. 2; pp. 460 - 469
• Main Authors: Wallmeier, Julia, Shiratori, Hidetaka, Dougherty, Gerard W., Edelbusch, Christine, Hjeij, Rim, Loges, Niki T., Menchen, Tabea, Olbrich, Heike, Pennekamp, Petra, Raidt, Johanna, Werner, Claudius, Minegishi, Katsura, Shinohara, Kyosuke, Asai, Yasuko, Takaoka, Katsuyoshi, Lee, Chanjae, Griese, Matthias, Memari, Yasin, Durbin, Richard, Kolb-Kokocinski, Anja, Sauer, Sascha, Wallingford, John B., Hamada, Hiroshi, Omran, Heymut
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 04.08.2016; Cell Press; Elsevier
• Subjects: Airway management; Animals; Axoneme - genetics; Axoneme - metabolism; Axoneme - pathology; Axoneme - ultrastructure; Carrier Proteins - genetics; Cilia - metabolism; Cilia - pathology; Cilia - ultrastructure; Congenital diseases; Dyneins - chemistry; Dyneins - genetics; Dyneins - metabolism; Dyneins - ultrastructure; Exome - genetics; Exons - genetics; Fluorescent Antibody Technique; Genes, Recessive; Genomics; Humans; Immunology; Kartagener Syndrome - genetics; Kartagener Syndrome - pathology; Mice; Microscopy, Electron, Transmission; Mutation; Protein Binding; Rodents; Transmission electron microscopy; Xenopus; Xenopus Proteins - deficiency; Xenopus Proteins - genetics

Multiprotein complexes referred to as outer dynein arms (ODAs) develop the main mechanical force to generate the ciliary and flagellar beat. ODA defects are the most common cause of primary ciliary dyskinesia (PCD), a congenital disorder of ciliary beating, characterized by recurrent infections of t...