Evidence map›Paper›PMID 32673563›Full record

ArticleNeuron2020

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Alyssa N Coyne, Benjamin L Zaepfel, Lindsey Hayes, Boris Fitchman, Yuval Salzberg, En-Ching Luo, Kelly Bowen, Hannah Trost, Stefan Aigner, Frank Rigo and 5 more

Open access · bronzeAbstract read
In one paragraph

Article in Neuron, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 116 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
116citing papers in PubMed, 1 pooled it
7.7field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

116 citing papers in PubMed, 1 synthesis or guideline pooled it, 160 citations in OpenAlex.

  1. Exploring dysregulated miRNAs in ALS: implications for disease pathogenesis and early diagnosis.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Pooled it
  2. Article
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  4. Article
  5. Article
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  16. Brain communications · 2026
    Article
  17. Review
  18. Article
  19. Review
  20. Review

56 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 7 institutions in 2 countries.

Alyssa N CoyneBrain 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.
Benjamin L ZaepfelBiochemistry, Cellular, and Molecular Biology Graduate Program, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Lindsey HayesDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Boris FitchmanAzrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.
Yuval SalzbergAzrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.
En-Ching LuoBioengineering Graduate Program, University of California San Diego College of Engineering, La Jolla, CA 92037, USA.
Kelly BowenBrain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Hannah TrostThe Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Stefan AignerSanford Consortium for Regenerative Medicine, University of California San Diego, La Jolla, CA 92037, USA.
Frank RigoIonis Pharmaceuticals, Carlsbad, CA 92010, USA.
Gene W YeoSanford Consortium for Regenerative Medicine, University of California San Diego, La Jolla, CA 92037, USA; Department of Cellular and Molecular Medicine, University of California San Diego, La Jolla, CA 92037, USA.
Amnon HarelAzrieli Faculty of Medicine, Bar-Ilan University, Safed 1311502, Israel.
Clive N SvendsenThe Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Dhruv SareenThe Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Jeffrey D RothsteinBrain 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. Electronic address: jrothstein@jhmi.edu.
Bar-Ilan University · ILCedars-Sinai Medical Center · USJohns Hopkins University · USJohns Hopkins Medicine · USUniversity of California, San Diego · USIonis Pharmaceuticals (United States) · USSanford Consortium for Regenerative Medicine · US

Funding

The Emory Alzheimer's Disease CenterP50AG025688 · NIA · EMORY UNIVERSITY · PI WALKER, LARY C · 2005 to 2019
$25.7M
Project 3: Neuropathology of the multi-proteinopathy of c9FTD/ALS.P01NS084974 · NINDS · MAYO CLINIC JACKSONVILLE · PI PETRUCELLI, LEONARD · 2014 to 2024
$17.6M
Neuron 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
$11.7M
Validation of r(G4C2)exp-binding small molecules in vivo and c9FTD/ALS biomarker developmentP01NS099114 · NINDS · UNIVERSITY OF FLORIDA · PI ROTHSTEIN, JEFFREY D · 2017 to 2021
$6.5M
Nuclear pore complex quality control in ALS/FTDR01NS122236 · NINDS · JOHNS HOPKINS UNIVERSITY · PI LUSK, CHARLES PATRICK, ROTHSTEIN, JEFFREY D · 2021 to 2025
$4.0M
Nuclear Pore Complex and as a Contributor to Tau Associated DementiaRF1AG062171 · NIA · JOHNS HOPKINS UNIVERSITY · PI PETRUCELLI, LEONARD, ROTHSTEIN, JEFFREY D · 2019 to 2019
$3.8M
Nucleocytoplasmic transport and nuclear pore disruption in ALS/FTDR01NS094239 · NINDS · JOHNS HOPKINS UNIVERSITY · PI LLOYD, THOMAS E., ROTHSTEIN, JEFFREY D · 2016 to 2020
$3.4M
ALS/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
$1.8M
FG-nucleoporins and nuclear transport disruption in C9ORF72-ALS/FTDK08NS104273 · NINDS · JOHNS HOPKINS UNIVERSITY · PI HAYES, LINDSEY RENAE · 2017 to 2021
$999k
Acquisition of a PicoQuant FLIM SystemS10OD020007 · OD · JOHNS HOPKINS UNIVERSITY · PI MCCAFFERY, J. MICHAEL · 2016 to 2016
$231k
NIA NIH HHS P50 AG025688NIA NIH HHS RF1 AG062171NIH HHS S10 OD020007NINDS NIH HHS K08 NS104273NINDS NIH HHS P01 NS084974NINDS NIH HHS P01 NS099114NINDS NIH HHS R01 NS085207NINDS NIH HHS R01 NS094239NINDS NIH HHS R01 NS122236NINDS NIH HHS U54 NS091046
6 · The paper itself

Abstract

Through mechanisms that remain poorly defined, defects in nucleocytoplasmic transport and accumulations of specific nuclear-pore-complex-associated proteins have been reported in multiple neurodegenerative diseases, including C9orf72 Amyotrophic Lateral Sclerosis and Frontotemporal Dementia (ALS/FTD). Using super-resolution structured illumination microscopy, we have explored the mechanism by which nucleoporins are altered in nuclei isolated from C9orf72 induced pluripotent stem-cell-derived neurons (iPSNs). Of the 23 nucleoporins evaluated, we observed a reduction in a subset of 8, including key components of the nuclear pore complex scaffold and the transmembrane nucleoporin POM121. Reduction in POM121 appears to initiate a decrease in the expression of seven additional nucleoporins, ultimately affecting the localization of Ran GTPase and subsequent cellular toxicity in C9orf72 iPSNs. Collectively, our data suggest that the expression of expanded C9orf72 ALS/FTD repeat RNA alone affects nuclear POM121 expression in the initiation of a pathological cascade affecting nucleoporin levels within neuronal nuclei and ultimately downstream neuronal survival.

Indexed as

Active Transport, Cell NucleusAmyotrophic Lateral SclerosisC9orf72 ProteinCells, CulturedFrontotemporal DementiaHEK293 CellsHumansInduced Pluripotent Stem CellsMembrane GlycoproteinsNeural Stem CellsNuclear PoreNuclear Pore Complex ProteinsC9orf72 ProteinC9orf72 protein, humanMembrane GlycoproteinsNuclear Pore Complex ProteinsPOM121 protein, humanALSC9orf72FTDneurodegenerationnuclear pore complexPOM121

Identifiers

PMID32673563
PMCPMC8077944
OpenAlexW3043174733

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.