{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n DNAAF1, formerly known as LRRC50, is a cytoplasmic dynein axonemal assembly factor that plays a pivotal role in the pre‐assembly of the axonemal dynein motors required for motile cilia function. In the cytoplasm, DNAAF1 facilitates the stabilization and proper assembly of both outer and inner dynein arm (ODA and IDA) components before they are transported into the ciliary axoneme. Through its interactions with molecular chaperones and key assembly partners—including the intraflagellar transport protein IFT88 and AAA+ ATPases such as RUVBL1—DNAAF1 helps to coordinate the formation of functional dynein complexes. Consequently, loss‐of‐function mutations in DNAAF1 disrupt dynein arm pre‐assembly, resulting in the absence or instability of these motor complexes within cilia. This defect underlies the clinical manifestations of primary ciliary dyskinesia (PCD), which include chronic respiratory infections, laterality (situs) defects, and infertility. Recent findings also suggest that DNAAF1, along with other dynein assembly factors, concentrates within specialized cytoplasmic condensates—sometimes referred to as DynAPs—to mediate the phase‐separation events that are critical for efficient dynein arm assembly."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": "\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Verity L Hartill, Glenn van de Hoek, Mitali P Patel, et al. "}, {"type": "b", "children": [{"type": "t", "text": "DNAAF1 links heart laterality with the AAA+ ATPase RUVBL1 and ciliary intraflagellar transport."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddx422"}], "href": "https://doi.org/10.1093/hmg/ddx422"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29228333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29228333"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Ryan L Huizar, Chanjae Lee, Alexander A Boulgakov, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A liquid-like organelle at the root of motile ciliopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.38497"}], "href": "https://doi.org/10.7554/eLife.38497"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30561330"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30561330"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Merel C Postema, Amaia Carrion-Castillo, Simon E Fisher, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The genetics of situs inversus without primary ciliary dyskinesia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-020-60589-z"}], "href": "https://doi.org/10.1038/s41598-020-60589-z"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32111882"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32111882"}]}]}]}