{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nNEK1 is a multifunctional serine/threonine kinase that is pivotal for maintaining genomic integrity. It is rapidly activated upon DNA damage and recruited to double‐strand break sites where it facilitates efficient cell cycle checkpoint activation and DNA repair. Through phosphorylation of key substrates such as Rad54 during homologous recombination and by modulating checkpoint kinases (e.g., Chk1 and Chk2), NEK1 orchestrates the early DNA damage response independently as well as in cooperation with canonical DDR mediators. These functions ensure proper G1/S and G2/M arrest, enabling effective repair of DNA lesions."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in DNA repair, NEK1 is integral to the regulation of ciliogenesis and centrosomal dynamics. It contributes to proper primary cilium formation and morphology—a process whose disruption is implicated in a spectrum of ciliopathies such as skeletal dysplasias and polycystic kidney disease. Moreover, NEK1 modulates mitochondrial function by phosphorylating targets like VDAC1; this phosphorylation promotes conformational changes that close the channel, limiting cytochrome c release and thereby preventing excessive apoptotic cell death. NEK1 also forms complexes with centrosomal proteins (for example, via interactions with FEZ1 and coiled‐coil domains) and partners such as VHL, highlighting its role in coordinating organellar integrity and cell cycle progression."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "17"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nGenetic and clinical studies have implicated NEK1 variants in a broad spectrum of human diseases. Loss‐of‐function and missense mutations in NEK1 are associated with an increased risk of amyotrophic lateral sclerosis (ALS) and can modulate disease onset and progression. Altered NEK1 activity has also been observed in various cancers—including prostate, thyroid, and gliomas—as well as in other neurodegenerative disorders such as Parkinson’s disease and retinal dystrophies. Furthermore, regulatory mechanisms such as TLK1-mediated phosphorylation (e.g., phosphorylation at T141), the stability of ATR–ATRIP complexes, and partnering with proteins like C21ORF2 not only underscore NEK1’s diverse cellular functions but also reveal potential therapeutic targets to overcome resistance to genotoxic stress."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "18", "end_ref": "36"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Kevin P Kenna, Perry T C van Doormaal, Annelot M Dekker, et al. 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