Evidence map›Paper›PMID 30327473›Full record

ArticleNature communications2018

Haploinsufficiency of autism spectrum disorder candidate gene NUAK1 impairs cortical development and behavior in mice.

Virginie Courchet, Amanda J Roberts, Géraldine Meyer-Dilhet, Peggy Del Carmine, Tommy L Lewis, Franck Polleux, Julien Courchet

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
2.4field-weighted citation impact, top 11% 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

23 citing papers in PubMed, 34 citations in OpenAlex.

  1. Asymmetric distribution of mitochondrial CaExperimental & molecular medicine · 2026
    Article
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  6. Mitochondrial Microproteins: Emerging Regulators in Neurodevelopment and Neurodegeneration.BioEssays : news and reviews in molecular, cellular and developmental biology · 2025
    Review
  7. Article
  8. Development of the Pyrido[2,3-ACS medicinal chemistry letters · 2025
    Article
  9. A fetal oncogene NUAK2 is an emerging therapeutic target in glioblastoma.bioRxiv : the preprint server for biology · 2025
    Article
  10. Article
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  14. HeterozygousHeliyon · 2024
    Article
  15. Article
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  18. Role of ARK5 in cancer and other diseases (Review).Experimental and therapeutic medicine · 2021
    Review
  19. Article
  20. Article
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

7 authors at 3 institutions in 2 countries.

Virginie CourchetUniv Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, F-69008, Lyon, France.
Amanda J RobertsDepartment of Neurosciences, The Scripps Research Institute, La Jolla, CA, 92037, USA.
Géraldine Meyer-DilhetUniv Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, F-69008, Lyon, France.
Peggy Del CarmineUniv Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, F-69008, Lyon, France.
Tommy L LewisDepartment of Neuroscience, Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, NY, 10032, USA.ORCID http://orcid.org/0000-0001-7033-7010
Franck PolleuxDepartment of Neuroscience, Zuckerman Mind Brain Behavior Institute and Kavli Institute for Brain Science, Columbia University, New York, NY, 10032, USA. fp2304@cumc.columbia.edu.ORCID http://orcid.org/0000-0003-4313-0481
Julien CourchetUniv Lyon, Université Claude Bernard Lyon 1, CNRS UMR-5310, INSERM U-1217, Institut NeuroMyoGène, F-69008, Lyon, France. julien.courchet@univ-lyon1.fr.ORCID http://orcid.org/0000-0002-1199-9329
Université Claude Bernard Lyon 1 · FRAllen Institute for Brain Science · USScripps Research Institute · US

Funding

KOMP2-Phase3 Production and Phenotyping by the DTCC Consortium TCP Transfer to UC DavisUM1OD023221 · OD · UNIVERSITY OF CALIFORNIA AT DAVIS · PI KC KENT LLOYD · 2016 to 2026
$45.7M
A kinase pathway required for terminal axon branching and presynaptic functionR01NS089456 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI POLLEUX, FRANCK · 2014 to 2017
$1.6M
In vivo investigation of mitochondrial dynamics in the mouse brainK99NS091526 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEWIS, TOMMY L · 2015 to 2016
$190k
LKB1 function in axon development through regulation of mitochondrial traffickingF32NS080464 · NINDS · SCRIPPS RESEARCH INSTITUTE, THE · PI LEWIS, TOMMY L · 2012 to 2014
$156k
EC | European Research Council (ERC) 678302-NEUROMETNIH HHS UM1 OD023221NINDS NIH HHS F32 NS080464NINDS NIH HHS K99 NS091526NINDS NIH HHS R01 NS089456U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) F32NS080464U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) K99NS091526U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R01NS089456
6 · The paper itself

Abstract

Recently, numerous rare de novo mutations have been identified in patients diagnosed with autism spectrum disorders (ASD). However, despite the predicted loss-of-function nature of some of these de novo mutations, the affected individuals are heterozygous carriers, which would suggest that most of these candidate genes are haploinsufficient and/or lead to expression of dominant-negative forms of the protein. Here, we tested this hypothesis with the candidate ASD gene Nuak1 that we previously identified for its role in the development of cortical connectivity. We report that Nuak1 is haploinsufficient in mice with regard to its function in cortical development. Furthermore Nuak1

Indexed as

HaploinsufficiencyMutationAnimalsAutism Spectrum DisorderAxonsCerebral CortexCognitionFemaleGene Expression Regulation, DevelopmentalHeterozygoteHumansMaleMice, KnockoutProtein KinasesRepressor ProteinsSensory GatingNUAK1 protein, humanNUAK1 protein, mouseProtein KinasesRepressor Proteins

Identifiers

PMID30327473
PMCPMC6191442
OpenAlexW2897327209

What OpenQuestion holds

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LicenceCC BY
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.