Evidence map›Paper›PMID 41279076›Full record

ArticlebioRxiv : the preprint server for biology2025

Disruption of Cell-Type-Specific Molecular Programs of Medium Spiny Neurons in Autism.

Guohua Yuan, Varun Suresh, Emilie Wigdor, Yuhan Hao, Rachel Leonard, Marilyn Steyert, Michael Griffiths, Clements Evans, Narjes Rohani, Jakob Weiss and 6 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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.

Guohua YuanDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Varun SureshDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Emilie WigdorInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Yuhan HaoDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Rachel LeonardDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Marilyn SteyertDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Michael GriffithsInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Clements EvansDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.
Narjes RohaniInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Jakob WeissInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Frederik H LassenCenter for Human Genetics, University of Oxford, Oxford, UK.
Nicole SchaferInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.
Shan DongDepartment of Psychiatry and Behavioral Sciences, University of California San Francisco, San Francisco, CA, USA.
Duncan S PalmerThe Pioneer Centre for SMARTbiomed, Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford, UK.
Stephan J SandersInstitute of Developmental and Regenerative Medicine, Department of Paediatrics, University of Oxford, Oxford, UK.ORCID 0000-0001-9112-5148
Tomasz J NowakowskiDepartment of Neurological Surgery, University of California San Francisco, San Francisco, CA, USA.

Funding

Comprehensive single-cell atlas of the developing mouse brainU01MH130962 · NIMH · HARVARD UNIVERSITY · PI Paola Arlotta, Tomasz Nowakowski · 2022 to 2026
$33.3M
Assessing Genomic, Regulatory and Transcriptional Variation at Single Nuclei Resolution in the Brains of Individuals with Autism Spectrum DisorderR01MH125516 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ARNOLD KRIEGSTEIN, Tomasz Nowakowski · 2021 to 2026
$3.8M
Neurodevelopmental defects of the thalamocortical pathway as a convergent feature of psychiatric disordersR01MH128364 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Tomasz Nowakowski, JOHN L. R. RUBENSTEIN · 2023 to 2026
$3.0M
Developmental Timing During Cortical DevelopmentR01NS123263 · NINDS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Tomasz Nowakowski · 2022 to 2026
$2.1M
4/4 - The Autism Sequencing Consortium: Discovering autism risk genes and how they impact core features of the disorderR01MH129751 · NIMH · UNIVERSITY OF OXFORD · PI Stephan Sanders · 2022 to 2026
$1.4M
2/2 - Identification and Validation of Expression Quantitative Trait Loci (eQTLs) in discrete cell types across human brain developmentU01MH122681 · NIMH · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI SANDERS, STEPHAN · 2021 to 2022
$1.2M
Illumina NovaSeq 6000 Sequencing SystemS10OD028511 · OD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI CHOW, ERIC D · 2020 to 2020
$583k
NIH HHS S10 OD028511NIMH NIH HHS R01 MH125516NIMH NIH HHS R01 MH128364NIMH NIH HHS R01 MH129751NIMH NIH HHS U01 MH122681NIMH NIH HHS U01 MH130962NINDS NIH HHS R01 NS123263
6 · The paper itself

Abstract

Autism spectrum disorders (ASD) are highly heritable neurodevelopmental conditions with major contributions from rare genetic variants. Most studies have focused on cortical mechanisms; even growing evidence implicates subcortical circuits in ASD etiology. To systematically map developmental and molecular alterations beyond the cortex, we profiled lineage relationships across five brain regions in an ASD mouse model. Most prominent changes emerged in the striatum, a hub for learning and motor control. Furthermore, we performed single-nucleus multiomic profiling of human putamen from ASD and neurotypical donors revealed cell-type-specific transcriptomic and regulatory alterations. Differential expression converged on synaptic and energy metabolic dysfunctions in D1 striosome medium spiny neurons (MSNs), coupled with astrocytic remodeling of synaptic support. Gene regulatory network analysis identified EGR3 and EGR1 as key transcriptional regulators of ASD-associated programs of D1 MSNs. Together, these results establish the striatum as a central node of ASD convergence and provide a multiomic resource for dissecting its subcortical mechanisms.

Identifiers

PMID41279076
PMCPMC12637482

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.