ArticleScience advances2023
Loss of function of the ALS-associated NEK1 kinase disrupts microtubule homeostasis and nuclear import.
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Article in Science advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28citing papers in PubMed
6.8field-weighted citation impact, top 2% of its field
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Who cites it
28 citing papers in PubMed, 33 citations in OpenAlex.
- PML as a neuroprotective guardian: Leveraging nuclear protein quality control to mitigate neurotoxicity of an ALS-associated NEK1 variant.The FEBS journal · 2026Article
- Pml loss worsens NEK1-linked ALS and Pml induction drives NEK1 degradation, precluding disease onset.The FEBS journal · 2026Article
- Review
- Nuclear condensates formed by truncated mutant NEK1s impede ribosomal RNA biogenesis and drive motor dysfunction.Nature communications · 2026Article
- A rare missense variant impacting NEK1 kinase function is associated with ALS.Acta neuropathologica communications · 2026Article
- Nek1 defines a branch of centriolar microtubule length control parallel to CP110-Cep97.Nature communications · 2026Article
- Amyotrophic Lateral Sclerosis (ALS) Genetics and Microbiota: A Comprehensive Review.International journal of molecular sciences · 2026Review
- Tailoring treatments: pharmacogenomics in the management of neurodegenerative diseases.Acta neurologica Belgica · 2026Review
- Wild-typemedRxiv : the preprint server for health sciences · 2026Article
- Article
- NEK Family Kinases: Structure, Function, and Role in Disease.Biomolecules · 2025Review
- PolyQ-Expansion of Ataxin-2 Disrupts Microtubule Stability and Impairs Axon Outgrowth.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Machine learning-based proteomics profiling of ALS identifies downregulation of RPS29 that maintains protein homeostasis and STMN2 level.Communications biology · 2025Article
- Mutations in NEK1 cause ciliary dysfunction as a novel pathogenic mechanism in amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Article
- MTFR1 phosphorylation-activated adaptive mitochondrial fusion is essential for colon cancer cell survival during glucose deprivation.Neoplasia (New York, N.Y.) · 2025Article
- Centrosomes and cilia in neurodegeneration: main actors or mere spectators?Open biology · 2025Review
- Gene therapy breakthroughs in ALS: a beacon of hope for 20% of ALS patients.Translational neurodegeneration · 2025Review
- Review
- Drug repurposing candidates for amyotrophic lateral sclerosis using common and rare genetic variants.Brain communications · 2025Article
- Clinicopathological analysis of NEK1 variants in amyotrophic lateral sclerosis.Brain pathology (Zurich, Switzerland) · 2025Article
Corrections and comments
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Authors and funding
15 authors at 3 institutions in 1 country.
Jacob R MannThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0003-2553-6015
Elizabeth D McKennaThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0003-2342-452X
Darilang MawrieDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.
Vasileios PapakisThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0002-0364-2792
Francesco AlessandriniThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0002-8450-848X
Eric N AndersonDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.ORCID 0000-0003-2533-8764
Ryan MayersThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0002-5627-9800
Hannah E BallThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0003-2804-2387
Evan KaspiThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0002-8619-893X
Katherine LubinskiThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.
Desiree M BaronDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Liana TellezThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0001-9452-3504
John E LandersDepartment of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.ORCID 0000-0001-8084-5043
Udai B PandeyDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh School of Medicine, Pittsburgh, PA 15224, USA.ORCID 0000-0002-6267-0179
Evangelos KiskinisThe Ken & Ruth Davee Department of Neurology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA.ORCID 0000-0001-8342-8616
Northwestern University · USUniversity of Pittsburgh · USUniversity of Massachusetts Chan Medical School · US
Funding
Tumor Environment and Metastasis (TEAM) Research ProgramP30CA060553 · NCI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Devalingam Mahalingam · 1993 to 2026
$153.9MTR&D 7: Cell Specific ProteomicsP41GM108569 · NIGMS · NORTHWESTERN UNIVERSITY · PI KELLEHER, NEIL L · 2015 to 2024
$13.6MPREDOCTORAL AND POSTDOCTORAL TRAINING PROGRAM IN AGING AND DEMENTIAT32AG020506 · NIA · NORTHWESTERN UNIVERSITY AT CHICAGO · PI ROBERT J VASSAR, SANDRA WEINTRAUB · 2002 to 2026
$9.9MGeneral Motor Control Mechanisms and Disease Training ProgramT32NS041234 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI BEVAN, MARK D · 2001 to 2022
$6.0MIdentification of genes causative for familial ALS gene using exome sequencingR01NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2011 to 2019
$4.6MInvestigating the Contribution of ALS/FTD-Associated Mutations in the NEK1 Kinase to Disease PathophysiologyR01NS134166 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI Evangelos Kiskinis, Udai B Pandey · 2023 to 2026
$3.0MDetermining How Defective Nucleo-Cytoplasmic Trafficking Leads To Neurodegeneration In C9orf72-Related ALS And FTDR01NS104219 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KISKINIS, EVANGELOS · 2018 to 2022
$2.3MAcquisition of a Thermo Fisher Scientific Q Exactive UHMR mass spectrometerS10OD025194 · OD · NORTHWESTERN UNIVERSITY · PI COMPTON, PHILIP DANIEL · 2018 to 2018
$795kIdentification and Characterization of ALS/FTD Associated Variants Using Whole Genome SequencingR56NS073873 · NINDS · UNIV OF MASSACHUSETTS MED SCH WORCESTER · PI LANDERS, JOHN E · 2020 to 2020
$586kDefining The Impaired Proteostasis Network in ALS Patient Motor NeuronsR21NS107761 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI KISKINIS, EVANGELOS, SAVAS, JEFFREY NICHOLAS · 2018 to 2019
$435kInvestigating ETF1 at the Interface of Translation Repression and Nonsense-Mediated Decay in C9-ALS/FTD NeurotoxicityF31NS117084 · NINDS · NORTHWESTERN UNIVERSITY AT CHICAGO · PI DALEY, ELIZABETH · 2020 to 2021
$72kBLRD VA I01 BX002466NCI NIH HHS P30 CA060553NIA NIH HHS T32 AG020506NIGMS NIH HHS P41 GM108569NIH HHS S10 OD025194NINDS NIH HHS F31 NS117084NINDS NIH HHS R01 NS073873NINDS NIH HHS R01 NS104219NINDS NIH HHS R01 NS134166NINDS NIH HHS R21 NS107761NINDS NIH HHS R56 NS073873NINDS NIH HHS T32 NS041234
Abstract
Loss-of-function variants in NIMA-related kinase 1 (NEK1) constitute a major genetic cause of amyotrophic lateral sclerosis (ALS), accounting for 2 to 3% of all cases. However, how
Indexed as
Amyotrophic Lateral SclerosisActive Transport, Cell NucleusHomeostasisHumansMicrotubulesMotor NeuronsNIMA-Related Kinase 1ProteinsNEK1 protein, humanNIMA-Related Kinase 1Proteins
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.