| ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons. | ALS-associated C21ORF2 variant disrupts DNA damage repair, mitochondrial metabolism, neuronal excitability and NEK1 levels in human motor neurons.
Zelina P, de Ruiter AA, Kolsteeg C, van Ginneken I, Vos HR, Supiot LF, Burgering BMT, Meye FJ, Veldink JH, van den Berg LH, Pasterkamp RJ., Free PMC Article | 10/11/2024 |
| Association between NEK1 gene polymorphisms and the potential risk of sporadic Parkinson's disease in the Chinese Northern Han population: A case-control study. | Association between NEK1 gene polymorphisms and the potential risk of sporadic Parkinson's disease in the Chinese Northern Han population: A case-control study.
He Q, Zhou Y, Jin J, Tian Q, Li H, Hou B, Xie A. | 08/12/2024 |
| A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants. | A case of siblings with juvenile retinitis pigmentosa associated with NEK1 gene variants.
Hikoya A, Hosono K, Ono K, Arai S, Tachibana N, Kurata K, Torii K, Sato M, Saitsu H, Ogata T, Hotta Y. | 09/22/2023 |
| Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases. | Functional characterization of C21ORF2 association with the NEK1 kinase mutated in human in diseases.
Gregorczyk M, Pastore G, Muñoz I, Carroll T, Streubel J, Munro M, Lis P, Lange S, Lamoliatte F, Macartney T, Toth R, Brown F, Hastie J, Pereira G, Durocher D, Rouse J., Free PMC Article | 05/25/2023 |
| Genetic and clinical characteristics of ALS patients with NEK1 gene variants. | Genetic and clinical characteristics of ALS patients with NEK1 gene variants.
Jiang Q, Lin J, Wei Q, Li C, Hou Y, Zhang L, Ou R, Liu K, Yang T, Xiao Y, Hadano S, Shang H. | 02/4/2023 |
| NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk. | NEK1 and STMN2 short tandem repeat lengths are not associated with Australian amyotrophic lateral sclerosis risk.
Grima N, Henden L, Fearnley LG, Rowe DB, D'Silva S, Pamphlett R, Adams L, Kiernan MC, Mazumder S, Timmins HC, Zoing M, Bahlo M, Blair IP, Williams KL. | 06/18/2022 |
| NEK1 deficiency affects mitochondrial functions and the transcriptome of key DNA repair pathways. | NEK1 deficiency affects mitochondrial functions and the transcriptome of key DNA repair pathways.
Martins MB, Perez AM, Bohr VA, Wilson DM 3rd, Kobarg J., Free PMC Article | 12/25/2021 |
| Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis. | Novel variants and cellular studies on patients' primary fibroblasts support a role for NEK1 missense variants in ALS pathogenesis.
Lattante S, Doronzio PN, Conte A, Marangi G, Martello F, Bisogni G, Meleo E, Colavito D, Del Giudice E, Patanella AK, Bernardo D, Romano A, Zollino M, Sabatelli M. | 10/9/2021 |
| NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis. | NEK1 mutations and the risk of amyotrophic lateral sclerosis (ALS): a meta-analysis.
Yao L, He X, Cui B, Zhao F, Zhou C. | 07/24/2021 |
| Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population. | Loss-of-function variants in NEK1 are associated with an increased risk of sporadic ALS in the Japanese population.
Naruse H, Ishiura H, Mitsui J, Takahashi Y, Matsukawa T, Yoshimura J, Doi K, Morishita S, Goto J, Toda T, Tsuji S. | 07/17/2021 |
| Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant. | Hand-onset weakness is a common feature of ALS patients with a NEK1 loss-of-function variant.
Tsai YS, Lin KP, Jih KY, Tsai PC, Liao YC, Lee YC., Free PMC Article | 04/24/2021 |
| Fractionation-Dependent Radiosensitization by Molecular Targeting of Nek1. | Fractionation-Dependent Radiosensitization by Molecular Targeting of Nek1.
Freund I, Hehlgans S, Martin D, Ensminger M, Fokas E, Rödel C, Löbrich M, Rödel F., Free PMC Article | 02/27/2021 |
| The TLK1/Nek1 axis contributes to mitochondrial integrity and apoptosis prevention via phosphorylation of VDAC1. | The TLK1/Nek1 axis contributes to mitochondrial integrity and apoptosis prevention via phosphorylation of VDAC1.
Singh V, Khalil MI, De Benedetti A., Free PMC Article | 11/28/2020 |
| The NEK protein kinases emerge as important proteins in thyroid cancer development and may help to identify malignancy and aggressiveness features during diagnosis. | Expression of the NEK family in normal and cancer tissue: an immunohistochemical study.
Melo-Hanchuk TD, Martins MB, Cunha LL, Soares FA, Ward LS, Vassallo J, Kobarg J., Free PMC Article | 06/20/2020 |
| Authors believe that this TLK1-Nek1 mediated DDR axis is likely to be a common adaptive response during the transition of PCa cells toward androgen-insensitive growth, and hence CRPC progression. | The TLK1-Nek1 axis promotes prostate cancer progression.
Singh V, Jaiswal PK, Ghosh I, Koul HK, Yu X, De Benedetti A. | 03/28/2020 |
| Targeting the TLK1/NEK1 axis might be a novel therapy for PCa. | Targeting the TLK1/NEK1 DDR axis with Thioridazine suppresses outgrowth of androgen independent prostate tumors.
Singh V, Jaiswal PK, Ghosh I, Koul HK, Yu X, De Benedetti A., Free PMC Article | 12/7/2019 |
| These findings showed that VHL regulates NEK1 via both HIF-2alpha pathway and ubiquitin-proteasome pathway in renal cancer cells. | VHL regulates NEK1 via both HIF-2α pathway and ubiquitin-proteasome pathway in renal cancer cell.
Chen G, Zhou J, Chen J, Zhu J, Liu SC, Ding XF, Zhang Q. | 11/9/2019 |
| Study established a NEK1 mutant frequency of 0.8% in Chinese Amyotrophic lateral sclerosis (ALS) patients, further expanded its spectrum of variants, and highlighted the possibility of coexistence with variants in additional ALS genes in NEK1 loss-of-function carriers. | Mutation screening of NEK1 in Chinese ALS patients.
Shu S, Lei X, Liu F, Cui B, Liu Q, Ding Q, Liu MS, Li XG, Cui L, Zhang X. | 09/14/2019 |
| 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. | NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.
Higelin J, Catanese A, Semelink-Sedlacek LL, Oeztuerk S, Lutz AK, Bausinger J, Barbi G, Speit G, Andersen PM, Ludolph AC, Demestre M, Boeckers TM. | 03/16/2019 |
| NEK1 kinase domain structure and its dynamic protein interactome after exposure to cisplatin have been reported. | NEK1 kinase domain structure and its dynamic protein interactome after exposure to Cisplatin.
Melo-Hanchuk TD, Slepicka PF, Meirelles GV, Basei FL, Lovato DV, Granato DC, Pauletti BA, Domingues RR, Leme AFP, Pelegrini AL, Lenz G, Knapp S, Elkins JM, Kobarg J., Free PMC Article | 01/19/2019 |
| We provide novel evidence for association of NEK1 with ALS in Chinese, reporting variants in these genes not previously found in Europeans. | Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese.
Gratten J, Zhao Q, Benyamin B, Garton F, He J, Leo PJ, Mangelsdorf M, Anderson L, Zhang ZH, Chen L, Chen XD, Cremin K, Deng HW, Edson J, Han YY, Harris J, Henders AK, Jin ZB, Li Z, Lin Y, Liu X, Marshall M, Mowry BJ, Ran S, Reutens DC, Song S, Tan LJ, Tang L, Wallace RH, Wheeler L, Wu J, Yang J, Xu H, Visscher PM, Bartlett PF, Brown MA, Wray NR, Fan D., Free PMC Article | 07/14/2018 |
| NEK1 variants may modify disease presentation of driving mutations. | NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.
Nguyen HP, Van Mossevelde S, Dillen L, De Bleecker JL, Moisse M, Van Damme P, Van Broeckhoven C, van der Zee J, BELNEU Consortium. | 06/9/2018 |
| 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. | Identification of the proteome complement of humanTLK1 reveals it binds and phosphorylates NEK1 regulating its activity.
Singh V, Connelly ZM, Shen X, De Benedetti A., Free PMC Article | 03/10/2018 |
| This study shown that the NEK1 is a novel in patient with familial amyotrophic lateral sclerosis. | NEK1 mutations in familial amyotrophic lateral sclerosis.
Brenner D, Müller K, Wieland T, Weydt P, Böhm S, Lulé D, Hübers A, Neuwirth C, Weber M, Borck G, Wahlqvist M, Danzer KM, Volk AE, Meitinger T, Strom TM, Otto M, Kassubek J, Ludolph AC, Andersen PM, Weishaupt JH. | 02/10/2018 |
| Mutation in NEK1 gene is associated with amyotrophic lateral sclerosis. | NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Kenna KP, van Doormaal PT, Dekker AM, Ticozzi N, Kenna BJ, Diekstra FP, van Rheenen W, van Eijk KR, Jones AR, Keagle P, Shatunov A, Sproviero W, Smith BN, van Es MA, Topp SD, Kenna A, Miller JW, Fallini C, Tiloca C, McLaughlin RL, Vance C, Troakes C, Colombrita C, Mora G, Calvo A, Verde F, Al-Sarraj S, King A, Calini D, de Belleroche J, Baas F, van der Kooi AJ, de Visser M, Ten Asbroek AL, Sapp PC, McKenna-Yasek D, Polak M, Asress S, Muñoz-Blanco JL, Strom TM, Meitinger T, Morrison KE, SLAGEN Consortium, Lauria G, Williams KL, Leigh PN, Nicholson GA, Blair IP, Leblond CS, Dion PA, Rouleau GA, Pall H, Shaw PJ, Turner MR, Talbot K, Taroni F, Boylan KB, Van Blitterswijk M, Rademakers R, Esteban-Pérez J, García-Redondo A, Van Damme P, Robberecht W, Chio A, Gellera C, Drepper C, Sendtner M, Ratti A, Glass JD, Mora JS, Basak NA, Hardiman O, Ludolph AC, Andersen PM, Weishaupt JH, Brown RH Jr, Al-Chalabi A, Silani V, Shaw CE, van den Berg LH, Veldink JH, Landers JE., Free PMC Article | 09/9/2017 |