Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex

• Published in: American journal of human genetics Vol. 97; no. 4; pp. 546 - 554
• Main Authors: Olbrich, Heike, Cremers, Carolin, Loges, Niki T., Werner, Claudius, Nielsen, Kim G., Marthin, June K., Philipsen, Maria, Wallmeier, Julia, Pennekamp, Petra, Menchen, Tabea, Edelbusch, Christine, Dougherty, Gerard W., Schwartz, Oliver, Thiele, Holger, Altmüller, Janine, Rommelmann, Frank, Omran, Heymut
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.10.2015; Cell Press; Elsevier
• Subjects: Adult; Animals; Blotting, Western; Cells; Child; Cilia - physiology; Congenital diseases; Cytoskeletal Proteins - genetics; Dyneins - antagonists & inhibitors; Dyneins - genetics; Exome - genetics; Female; Genetic disorders; Humans; Intracellular Signaling Peptides and Proteins - physiology; Kartagener Syndrome - etiology; Kartagener Syndrome - pathology; Male; Mice; Mice, Knockout; Microscopy, Electron, Transmission; Microscopy, Fluorescence; Multiprotein Complexes - antagonists & inhibitors; Multiprotein Complexes - genetics; Mutation - genetics; Nasal Mucosa - cytology; Nasal Mucosa - metabolism; Neoplasm Proteins - genetics; Nitric Oxide - analysis; Pedigree; Phenotype; Prognosis; Protease Nexins - antagonists & inhibitors; Protease Nexins - genetics; Respiratory diseases; Respiratory System; Transmission electron microscopy; Young Adult

Multiciliated epithelial cells protect the upper and lower airways from chronic bacterial infections by moving mucus and debris outward. Congenital disorders of ciliary beating, referred to as primary ciliary dyskinesia (PCD), are characterized by deficient mucociliary clearance and severe, recurren...