Evidence map›Paper›PMID 36950384›Full record

ArticleCell genomics2023

Protein interaction studies in human induced neurons indicate convergent biology underlying autism spectrum disorders.

Greta Pintacuda, Yu-Han H Hsu, Kalliopi Tsafou, Ka Wan Li, Jacqueline M Martín, Jackson Riseman, Julia C Biagini, Joshua K T Ching, Daya Mena, Miguel A Gonzalez-Lozano and 6 more

Open access · goldAbstract read
In one paragraph

Article in Cell genomics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed
10.0field-weighted citation impact, top 1% 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

33 citing papers in PubMed, 50 citations in OpenAlex.

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  16. Functional Neurogenomics to Dissect Disease Mechanisms Across Models.Annual review of genomics and human genetics · 2025
    Review
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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

16 authors at 1 institution in 2 countries.

Greta PintacudaStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Yu-Han H HsuStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Kalliopi TsafouStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Ka Wan LiDepartment of Molecular and Cellular Neurobiology, CNCR, VU University Amsterdam, 1081 HV Amsterdam, The Netherlands.
Jacqueline M MartínStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Jackson RisemanStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Julia C BiaginiStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Joshua K T ChingStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Daya MenaStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Miguel A Gonzalez-LozanoDepartment of Molecular and Cellular Neurobiology, CNCR, VU University Amsterdam, 1081 HV Amsterdam, The Netherlands.
Shawn B EgriProteomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Jake JaffeProteomics Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
August B SmitDepartment of Molecular and Cellular Neurobiology, CNCR, VU University Amsterdam, 1081 HV Amsterdam, The Netherlands.
Nadine FornelosStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Kevin C EgganStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Kasper LageStanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Broad Institute · US

Funding

Rare Sequence Variation and Diabetes Quantitative TraitsU01DK078616 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI MEIGS, JAMES B · 2015 to 2019
$3.6M
2/3 Building Integrative CNS Networks for Genomic Analysis of AutismR01MH109903 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI HANSEN, KASPER LAGE · 2016 to 2020
$1.4M
Harvard Training Program in Bioinformatics Applied to Diabetes, Obesity and Metabolism.T32DK110919 · NIDDK · MASSACHUSETTS GENERAL HOSPITAL · PI FLOREZ, JOSE CARLOS, PATEL, CHIRAG J. · 2017 to 2021
$1.3M
From genetic risk variants to convergent protein networks: an integrative approach to elucidate the causal molecular mechanisms of schizophrenia.U01MH121499 · NIMH · BROAD INSTITUTE, INC. · PI HANSEN, KASPER LAGE · 2020 to 2020
$829k
NIDDK NIH HHS T32 DK110919NIDDK NIH HHS U01 DK078616NIMH NIH HHS R01 MH109903NIMH NIH HHS U01 MH121499
6 · The paper itself

Abstract

Autism spectrum disorders (ASDs) have been linked to genes with enriched expression in the brain, but it is unclear how these genes converge into cell-type-specific networks. We built a protein-protein interaction network for 13 ASD-associated genes in human excitatory neurons derived from induced pluripotent stem cells (iPSCs). The network contains newly reported interactions and is enriched for genetic and transcriptional perturbations observed in individuals with ASDs. We leveraged the network data to show that the ASD-linked brain-specific isoform of ANK2 is important for its interactions with synaptic proteins and to characterize a PTEN-AKAP8L interaction that influences neuronal growth. The IGF2BP1-3 complex emerged as a convergent point in the network that may regulate a transcriptional circuit of ASD-associated genes. Our findings showcase cell-type-specific interactomes as a framework to complement genetic and transcriptomic data and illustrate how both individual and convergent interactions can lead to biological insights into ASDs.

Indexed as

autism spectrum disordersexome sequencinginduced excitatory neuronsIP-MSprotein-protein interactions

Identifiers

PMID36950384
PMCPMC10025425
OpenAlexW4319990318

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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 Socratic graph.