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evidence that a NEK1 mutation associated with amyotrophic lateral sclerosis leads to NEK1 haploinsufficiency in human MNs and to increased DNA damage leading to increased vulnerability and motoneuronal death.
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NEK1 kinase domain structure and its dynamic protein interactome after exposure to cisplatin have been reported.
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We provide novel evidence for association of NEK1 with ALS in Chinese, reporting variants in these genes not previously found in Europeans.
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NEK1 variants may modify disease presentation of driving mutations.
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Following DNA damage, addition of the TLK1 inhibitor, THD, or overexpression of NEK1-T141A mutant impaired ATR and Chk1 activation, indicating the existence of a TLK1>NEK1>ATR>Chk1 pathway. Indeed, overexpression of the NEK1-T141A mutant resulted in an altered cell cycle response after exposure of cells to oxidative stress, including bypass of G1 arrest and implementation of an intra S-phase checkpoint.
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This study shown that the NEK1 is a novel in patient with familial amyotrophic lateral sclerosis.
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Mutation in NEK1 gene is associated with amyotrophic lateral sclerosis.
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Nek1 phosphorylates Rad54 and regulates Rad51 removal to orchestrate homologous recombination and replication fork stability.
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Compound heterozygous variants in NEK1 were identified in two brothers with Mohr syndrome. The nonsense variant c.1226G>A, p.(Trp409*), results in nonsense-associated alternative splicing. Ciliation in patient fibroblasts is drastically reduced.
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The skeletal phenotype of our patient was milder than those of previously reported cases with NEK1 mutations and those with axial SMD harboring C21orf2 mutations. Phenotypes associated with NEK1 mutations are variable and the phenotype-genotype corelation in skeletal ciliopathies is challenging
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Nek1 overexpression in gliomas was correlated with the proliferation marker (Ki-67), tumor grade, Karnofsky performance scale (KPS) and more importantly, patients' poor survival. Further studies showed that Nek1 expression level was also increased in multiple glioma cell lines (U251-MG, U87-MG, U118, H4 and U373).
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C21ORF2 functions in the same pathway as NEK1 in DNA damage repair.
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Nek1 may facilitate S-phase progression by interacting with Ku80 and regulating chromatin loading of replication factors.
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Nek1 may suppress cilia by phosphorylating pVHL, which is critical to microtubule stabilization and ciliary stability.
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as an ATR-associated kinase, Nek1 enhances the stability and activity of ATR-ATRIP before DNA damage, priming ATR-ATRIP for a robust DNA damage response
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The present case provides evidence for a correlation of NEK1 mutation with short rib-polydactyly syndrome type II (Majewski.
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This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations.
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results demonstrate that Nek1 is important for proper checkpoint control and characterize for the first time a DNA damage response that does not directly involve one of the known upstream mediator kinases, ATM or ATR
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absence of functional full-length NEK1 severely reduces cilia number and alters ciliar morphology in vivo.
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Nek1 is involved in the beginning of the cellular response to genotoxic stress and plays an important role in preventing cell death induced by DNA damage.
