Evidence map›Paper›PMID 31371726›Full record

ArticleNature communications2019

The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour.

Nuria Domínguez-Iturza, Adrian C Lo, Disha Shah, Marcelo Armendáriz, Anna Vannelli, Valentina Mercaldo, Massimo Trusel, Ka Wan Li, Denise Gastaldo, Ana Rita Santos and 7 more

Open access · goldAbstract read
In one paragraph

Article in Nature communications, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.

0numbers the graph read from it
0cells of the map it votes in
52citing papers in PubMed
6.4field-weighted citation impact, top 3% 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

52 citing papers in PubMed, 100 citations in OpenAlex.

  1. Altered Brain Structure in an ATRX-Deficient Mouse Model of Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2026
    Article
  2. Article
  3. Control of microglial dynamics by the Arp2/3 complex and the autism- and schizophrenia-associated protein CYFIP1.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
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  10. Mapping Cerebellar Morphology in 15q11.2 CNV Carriers Using Normative Modeling.medRxiv : the preprint server for health sciences · 2025
    Article
  11. Review
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  18. Adaptive, behavioral, and cognitive outcomes in individuals with fragile X syndrome with varying autism severity.International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience · 2023
    Article
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  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors at 6 institutions in 5 countries.

Nuria Domínguez-IturzaDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.ORCID http://orcid.org/0000-0002-0693-0589
Adrian C LoDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.
Disha ShahDepartment of Biomedical Sciences, Bio-Imaging Laboratory, University of Antwerp, 2610, Antwerp, Belgium.
Marcelo ArmendárizDepartment of Neurosciences, Laboratory of Neuro- and Psychophysiology, KU Leuven, 3000, Leuven, Belgium.ORCID http://orcid.org/0000-0002-7905-1104
Anna VannelliDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.
Valentina MercaldoDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.
Massimo TruselDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.
Ka Wan LiDepartment of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, 1081, Amsterdam, The Netherlands.ORCID http://orcid.org/0000-0001-6983-5055
Denise GastaldoDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.
Ana Rita SantosDepartment of Human Genetics KU Leuven, VIB Center for Brain & Disease Research, 3000, Leuven, Belgium.
Zsuzsanna Callaerts-VeghFaculty of Psychology and Educational Sciences, KU Leuven, Laboratory of Biological Psychology, 3000, Leuven, Belgium.ORCID http://orcid.org/0000-0001-9091-2078
Rudi D'HoogeFaculty of Psychology and Educational Sciences, KU Leuven, Laboratory of Biological Psychology, 3000, Leuven, Belgium.
Manuel MameliDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.ORCID http://orcid.org/0000-0002-0570-6964
Annemie Van der LindenDepartment of Biomedical Sciences, Bio-Imaging Laboratory, University of Antwerp, 2610, Antwerp, Belgium.
August B SmitDepartment of Molecular and Cellular Neurobiology, Center for Neurogenomics and Cognitive Research, VU University Amsterdam, 1081, Amsterdam, The Netherlands.
Tilmann AchselDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland.
Claudia BagniDepartment of Fundamental Neurosciences, University of Lausanne, 1005, Lausanne, Switzerland. Claudia.Bagni@unil.ch.ORCID http://orcid.org/0000-0002-4419-210X
University of Lausanne · CHKU Leuven · BEVIB-KU Leuven Center for Brain & Disease Research · BEAmsterdam Neuroscience · NLUniversity of Antwerp · BEUniversity of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Copy-number variants of the CYFIP1 gene in humans have been linked to autism spectrum disorders (ASD) and schizophrenia (SCZ), two neuropsychiatric disorders characterized by defects in brain connectivity. Here, we show that CYFIP1 plays an important role in brain functional connectivity and callosal functions. We find that Cyfip1-heterozygous mice have reduced functional connectivity and defects in white matter architecture, similar to phenotypes found in patients with ASD, SCZ and other neuropsychiatric disorders. Cyfip1-deficient mice also present decreased myelination in the callosal axons, altered presynaptic function, and impaired bilateral connectivity. Finally, Cyfip1 deficiency leads to abnormalities in motor coordination, sensorimotor gating and sensory perception, which are also known neuropsychiatric disorder-related symptoms. These results show that Cyfip1 haploinsufficiency compromises brain connectivity and function, which might explain its genetic association to neuropsychiatric disorders.

Indexed as

Adaptor Proteins, Signal TransducingAnimalsAutism Spectrum DisorderAxonsBehavior, AnimalBrainDisease Models, AnimalDNA Copy Number VariationsGenetic Association StudiesGenetic Predisposition to DiseaseHaploinsufficiencyHeterozygoteHumansMaleMiceMice, Inbred C57BLAdaptor Proteins, Signal TransducingCyfip1 protein, mouseNerve Tissue Proteins

Identifiers

PMID31371726
PMCPMC6672001
OpenAlexW2965166321

What OpenQuestion holds

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Registered trials

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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.