The role of SPAG1 in the assembly of axonemal dyneins in human airway epithelia

• Published in: Journal of cell science Vol. 135; no. 6
• Main Authors: Smith, Amanda J., Bustamante-Marin, Ximena M., Yin, Weining, Sears, Patrick R., Herring, Laura E., Dicheva, Nedyalka N., López-Giráldez, Francesc, Mane, Shrikant, Tarran, Robert, Leigh, Margaret W., Knowles, Michael R., Zariwala, Maimoona A., Ostrowski, Lawrence E.
• Format: Journal Article
• Language: English
• Published: England The Company of Biologists Ltd 15.03.2022
• Subjects: Antigens, Surface - metabolism; Axonemal Dyneins - genetics; Axonemal Dyneins - metabolism; Axoneme - metabolism; Cilia - metabolism; Dyneins - genetics; Dyneins - metabolism; GTP-Binding Proteins - metabolism; Humans; Mutation - genetics; Respiratory System - metabolism; SPAG1; Motile cilia; Primary ciliary dyskinesia; Dynein arm assembly; R2TP complex
• ISSN: 0021-9533; 1477-9137; 1477-9137
• DOI: 10.1242/jcs.259512

Mutations in SPAG1, a dynein axonemal assembly factor (DNAAF) that facilitates the assembly of dynein arms in the cytoplasm before their transport into the cilium, result in primary ciliary dyskinesia (PCD), a genetically heterogenous disorder characterized by chronic oto-sino-pulmonary disease, inf...