ArticleNeuron2017
Mutant Huntingtin Disrupts the Nuclear Pore Complex.
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Article in Neuron, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 236 papers.
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236citing papers in PubMed
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Who cites it
236 citing papers in PubMed.
- Temporal gating dictates stress-induced transcript export from the nucleus.Genes & development · 2026Article
- Nuclear membrane disruption in neurodegenerative diseases: Emerging perspectives.Neural regeneration research · 2026Article
- O-GlcNAcylation: A molecular switch linking brain health to neurodegeneration.Neural regeneration research · 2026Article
- Importin-8 silencing reduces Ataxin-3 aggregation and alleviates Machado-Joseph disease/spinocerebellar ataxia type 3.iScience · 2026Article
- Proteostasis of organelles in aging and disease.The FEBS journal · 2026Review
- Brain O-GlcNAcylation in Neurodegenerative Diseases: Context-Dependent Mechanisms and Precision Therapeutic Translation.Brain sciences · 2026Review
- Targeted quantification assays for DNA repair and handling proteins and interactions in Huntington's disease models.bioRxiv : the preprint server for biology · 2026Article
- Reconciling the effects of PMS2 in different repeat expansion disease models supports a common expansion mechanism.PNAS nexus · 2026Article
- Article
- Pathologies at the gateway: exploring the link between nucleoporins and inherited diseases.Cellular and molecular life sciences : CMLS · 2026Review
- Temporal gating dictates stress-induced transcript export from the nucleus.bioRxiv : the preprint server for biology · 2026Article
- RanBP2-dependent annulate lamellae drive nuclear pore assembly and nuclear expansion.Nature communications · 2026Article
- ALS and Huntington Disease: Unraveling the Connections between TDP-43 and Huntingtin.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Review
- Nuclear tau aggregates inhibit RNA export and form by secondary seeding from cytosolic tau aggregates.bioRxiv : the preprint server for biology · 2026Article
- Impaired nucleocytoplasmic transport in SOD1-mediated ALS.Molecular neurodegeneration · 2026Article
- Reversible ALKBH5 cytosolic aggregation accelerates cellular senescence.Cell death and differentiation · 2026Article
- Copper Homeostasis and Cuproptosis in Neurological Disorders.Drug design, development and therapy · 2026Review
- Hydrogen Sulfide Signaling in Neurodegenerative Movement Disorders.Handbook of experimental pharmacology · 2026Review
- RBM15 affects mitophagy in intracerebral hemorrhage by promoting E2F1 nuclear translocation via NXF1.Frontiers in immunology · 2026Article
- Pridopidine, a Potent and Selective Therapeutic Sigma-1 Receptor (S1R) Agonist for Treating Neurodegenerative Diseases.Pharmaceuticals (Basel, Switzerland) · 2025Review
176 more citing papers are in PubMed but not listed here.
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Authors and funding
23 authors.
Jonathan C GrimaSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
J Gavin DaigleBrain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Nicolas ArbezSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Kathleen C CunninghamDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Ke ZhangBrain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Joseph OchabaDepartment of Neurobiology and Behavior, University of California, Irvine, Irvine, CA 92697, USA.
Charlene GeaterDepartment of Neurobiology and Behavior, University of California, Irvine, Irvine, CA 92697, USA.
Eva MorozkoDepartment of Neurobiology and Behavior, University of California, Irvine, Irvine, CA 92697, USA.
Jennifer StocksdaleDepartment of Neurobiology and Behavior, University of California, Irvine, Irvine, CA 92697, USA.
Jenna C GlatzerBrain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Jacqueline T PhamBrain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Ishrat AhmedSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Qi PengSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Harsh WadhwaDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Olga PletnikovaDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Juan C TroncosoDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Wenzhen DuanSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Solomon H SnyderSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Laura P W RanumCenter for NeuroGenetics, Departments of Molecular Genetics and Microbiology and Neurology, College of Medicine, Genetics Institute, McKnight Brain Institute, University of Florida, Gainesville, FL 32611, USA.
Leslie M ThompsonDepartment of Neurobiology and Behavior, University of California, Irvine, Irvine, CA 92697, USA.
Thomas E LloydSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Christopher A RossSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Jeffrey D RothsteinSolomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: jrothstein@jhmi.edu.
Funding
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007309 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI COX, ANDREA L · 1985 to 2019
$43.2M'T V ASSESSMENT - MEMORY DISORDERED PATIENTS'P50AG005146 · NIA · JOHNS HOPKINS UNIVERSITY · PI HUGANIR, RICHARD L · 1985 to 2019
$37.6MShared Resource CoresP01HL107153 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI HART, GERALD WARREN · 2011 to 2017
$16.8MTemporal/spatial RNA Expression Effects in DM1 and DM2P01NS058901 · NINDS · UNIVERSITY OF MINNESOTA · PI RANUM, LAURA P.W · 2008 to 2017
$12.3MNeuron and Glial Cellular Signatures from Normal and Diseased iPS Cells-SupplementU54NS091046 · NINDS · UNIVERSITY OF CALIFORNIA-IRVINE · PI FINKBEINER, STEVEN M, FRAENKEL, ERNEST · 2014 to 2020
$11.7MTraining Program in Cellular and Molecular MedicineT32GM008752 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI RAO, RAJINI · 2000 to 2019
$11.7MValidation of Novel Pathogenic Post-Translational Modifications of Huntingtin, and of Modifying Enzymes as Therapeutic Targets for Huntington's DiseaseR01NS086452 · NINDS · JOHNS HOPKINS UNIVERSITY · PI ROSS, CHRISTOPHER A · 2014 to 2023
$6.2MMolecular effects of metformin, PKR and TBI on C9orf72 ALS/FTDR01NS098819 · NINDS · UNIVERSITY OF FLORIDA · PI Laura P.W Ranum, Tao Zu · 2016 to 2026
$5.2MMolecular Genetic Characterization of SCA8R37NS040389 · NINDS · UNIVERSITY OF FLORIDA · PI RANUM, LAURA P.W · 2015 to 2021
$4.5MNucleocytoplasmic transport and nuclear pore disruption in ALS/FTDR01NS094239 · NINDS · JOHNS HOPKINS UNIVERSITY · PI LLOYD, THOMAS E., ROTHSTEIN, JEFFREY D · 2016 to 2020
$3.4MHuntington's Disease biomarkers and therapeuticsR01NS082338 · NINDS · JOHNS HOPKINS UNIVERSITY · PI DUAN, WENZHEN · 2013 to 2017
$2.0MALS/FTD mutant C9orf72-induced genetic and nuclear pathology in iPS cell modelsR01NS085207 · NINDS · JOHNS HOPKINS UNIVERSITY · PI ROTHSTEIN, JEFFREY D, SATTLER, RITA · 2013 to 2017
$1.8MNHLBI NIH HHS P01 HL107153NIA NIH HHS P50 AG005146NIGMS NIH HHS T32 GM007309NIGMS NIH HHS T32 GM008752NINDS NIH HHS F31 NS103360NINDS NIH HHS P01 NS058901NINDS NIH HHS R01 NS082338NINDS NIH HHS R01 NS085207NINDS NIH HHS R01 NS086452NINDS NIH HHS R01 NS090390NINDS NIH HHS R01 NS094239NINDS NIH HHS R01 NS098819NINDS NIH HHS R21 NS094886NINDS NIH HHS R21 NS099670NINDS NIH HHS R37 NS040389NINDS NIH HHS U54 NS091046
Abstract
Huntington's disease (HD) is caused by an expanded CAG repeat in the Huntingtin (HTT) gene. The mechanism(s) by which mutant HTT (mHTT) causes disease is unclear. Nucleocytoplasmic transport, the trafficking of macromolecules between the nucleus and cytoplasm, is tightly regulated by nuclear pore complexes (NPCs) made up of nucleoporins (NUPs). Previous studies offered clues that mHTT may disrupt nucleocytoplasmic transport and a mutation of an NUP can cause HD-like pathology. Therefore, we evaluated the NPC and nucleocytoplasmic transport in multiple models of HD, including mouse and fly models, neurons transfected with mHTT, HD iPSC-derived neurons, and human HD brain regions. These studies revealed severe mislocalization and aggregation of NUPs and defective nucleocytoplasmic transport. HD repeat-associated non-ATG (RAN) translation proteins also disrupted nucleocytoplasmic transport. Additionally, overexpression of NUPs and treatment with drugs that prevent aberrant NUP biology also mitigated this transport defect and neurotoxicity, providing future novel therapy targets.
Indexed as
Active Transport, Cell NucleusAdultAnimalsDisease Models, AnimalDrosophilaDrosophila ProteinsFemaleHumansHuntingtin ProteinHuntington DiseaseInduced Pluripotent Stem CellsMaleMiceMiddle AgedMutationNuclear PoreDrosophila ProteinsHtt protein, DrosophilaHTT protein, humanHtt protein, mouseHuntingtin ProteinNuclear Pore Complex ProteinsC9ORF72Huntington’s diseaseinduced pluripotent stem cellKPT-350neurodegenerationnuclear pore complexnucleocytoplasmic transportO-GlcNAcRAN translationThiamet-G
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