Evidence map›Paper›PMID 26308983›Full record

ArticleNature neuroscience2015

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS.

Ana Jovičić, Jerome Mertens, Steven Boeynaems, Elke Bogaert, Noori Chai, Shizuka B Yamada, Joseph W Paul, Shuying Sun, Joseph R Herdy, Gregor Bieri and 5 more

Abstract read
In one paragraph

Article in Nature neuroscience, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 404 papers.

0numbers the graph read from it
0cells of the map it votes in
404citing papers in PubMed
–field-weighted citation impact
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

404 citing papers in PubMed.

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

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

15 authors.

Ana JovičićDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Jerome MertensSalk Institute for Biological Studies, Sanford Consortium for Regenerative Medicine, La Jolla, California, USA.
Steven BoeynaemsKU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), Leuven, Belgium.
Elke BogaertKU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), Leuven, Belgium.
Noori ChaiDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Shizuka B YamadaDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Joseph W PaulDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Shuying SunLudwig Institute for Cancer Research, Departments of Cellular and Molecular Medicine and of Neurosciences, University of California at San Diego, La Jolla, California, USA.
Joseph R HerdySalk Institute for Biological Studies, Sanford Consortium for Regenerative Medicine, La Jolla, California, USA.
Gregor BieriDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Nicholas J KramerDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.
Fred H GageSalk Institute for Biological Studies, Sanford Consortium for Regenerative Medicine, La Jolla, California, USA.
Ludo Van Den BoschKU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), Leuven, Belgium.
Wim RobberechtKU Leuven-University of Leuven, Department of Neurosciences, Experimental Neurology and Leuven Research Institute for Neuroscience and Disease (LIND), Leuven, Belgium.
Aaron D GitlerDepartment of Genetics, Stanford University School of Medicine, Stanford, California, USA.

Funding

INSTITUTIONAL TRAINING GRANT IN GENOME SCIENCET32HG000044 · NHGRI · STANFORD UNIVERSITY · PI MICHAEL P. SNYDER · 1995 to 2026
$32.2M
VECTOR COREP30NS069375 · NINDS · STANFORD UNIVERSITY · PI STEINBERG, GARY K · 2011 to 2019
$6.3M
Molecular Basis of TDP-43 Proteinopathies: Disease Models and MechanismsR01NS065317 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI GITLER, AARON D. · 2009 to 2016
$2.7M
Ataxin-2 as a genetic risk factor for ALS: New insights into neurodegenerationR01NS073660 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI BONINI, NANCY M, GITLER, AARON D. · 2011 to 2015
$1.7M
C9orf72 hexanucleotide repeat expansion caused neurodegeneration in ALS and FTDR00NS091538 · NINDS · JOHNS HOPKINS UNIVERSITY · PI SUN, SHUYING · 2016 to 2018
$734k
Mechanisms of C9orf72 hexanucleotide repeat expansion caused neurodegeneration in ALS and FTDK99NS091538 · NINDS · LUDWIG INSTITUTE FOR CANCER RES LTD · PI SUN, SHUYING · 2015 to 2016
$186k
NHGRI NIH HHS T32 HG000044NINDS NIH HHS 1R01NS065317NINDS NIH HHS 1R01NS073660NINDS NIH HHS K99 NS091538NINDS NIH HHS NS069375NINDS NIH HHS NS091538NINDS NIH HHS P30 NS069375NINDS NIH HHS R00 NS091538NINDS NIH HHS R01 NS065317NINDS NIH HHS R01 NS073660
6 · The paper itself

Abstract

C9orf72 mutations are the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Dipeptide repeat proteins (DPRs) produced by unconventional translation of the C9orf72 repeat expansions cause neurodegeneration in cell culture and in animal models. We performed two unbiased screens in Saccharomyces cerevisiae and identified potent modifiers of DPR toxicity, including karyopherins and effectors of Ran-mediated nucleocytoplasmic transport, providing insight into potential disease mechanisms and therapeutic targets.

Indexed as

Active Transport, Cell NucleusAmyotrophic Lateral SclerosisAnimalsC9orf72 ProteinCell NucleusCells, CulturedDipeptidesDNA Repeat ExpansionFrontotemporal DementiaGene DeletionHumansMiceProteinsYeastsC9orf72 ProteinC9orf72 protein, humanDipeptidesProteins

Identifiers

PMID26308983
PMCPMC4552077

What OpenQuestion holds

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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.