{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Recent genetic and molecular studies have shed light on distinct mechanisms that underlie congenital heart defects and motile ciliopathies. In one study evaluating hypoplastic left heart syndrome (HLHS), mutations in developmental regulators – particularly in NOTCH1 – were implicated in disease pathogenesis, whereas somatic alterations in other examined genes (such as HAND1) were not found to be major contributors."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " In contrast, another line of work has focused on the molecular machinery governing ciliary motility. In this context, axonemal dyneins, the force‐generating motors required for effective ciliary beating, must first be assembled in the cytoplasm. This pre‐assembly is orchestrated by a set of specialized chaperones and dedicated assembly factors that concentrate within dynamic, liquid‐like organelles known as DynAPs. Among these factors is DNAAF8, a dynein axonemal assembly factor that plays a critical role in the proper cytoplasmic construction of dynein arms prior to their deployment into the ciliary axoneme."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "\n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n Thus, DNAAF8 functions as an essential mediator of dynein motor assembly, a process crucial for ensuring effective ciliary motility. While congenital heart defects such as HLHS may be driven by mutations in developmental regulators independent of ciliary pre‐assembly, the critical role of assembly factors like DNAAF8 in the formation of functional axonemal dyneins underscores their importance in maintaining normal ciliary function and, by extension, proper cardiogenesis and laterality during development.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Matthew D Durbin, Adrian G Cadar, Charles H Williams, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hypoplastic Left Heart Syndrome Sequencing Reveals a Novel NOTCH1 Mutation in a Family with Single Ventricle Defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Cardiol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00246-017-1650-5"}], "href": "https://doi.org/10.1007/s00246-017-1650-5"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28608148"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28608148"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Chanjae Lee, Rachael M Cox, Ophelia Papoulas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional partitioning of a liquid-like organelle during assembly of axonemal dyneins."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Elife (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.7554/eLife.58662"}], "href": "https://doi.org/10.7554/eLife.58662"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33263282"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33263282"}]}]}]}