Evidence map›Paper›PMID 41633496›Full record

ArticleBiological psychiatry2026

Loss of Zmiz1 in Mice Leads to Impaired Cortical Development and Autistic-Like Behaviors.

Rajan K C, Nehal R Patel, Abbigail Thurmon, Belle L Kantor, Maryann Grace Lorino, Alina S Tiemroth, Vivianne Morrison, Mauren Akumuo, Anoushka Shenoy, Xabier Blanco-Fernandez and 5 more

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Article in Biological psychiatry, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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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

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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

5 · Who and what money

Authors and funding

15 authors.

Rajan K CDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Nehal R PatelDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Abbigail ThurmonDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Belle L KantorDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Maryann Grace LorinoTulane Brain Institute, Tulane University, New Orleans, Louisiana.
Alina S TiemrothTulane Brain Institute, Tulane University, New Orleans, Louisiana.
Vivianne MorrisonDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Mauren AkumuoDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Anoushka ShenoyDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Xabier Blanco-FernandezTulane Brain Institute, Tulane University, New Orleans, Louisiana.
Victoria BacciniTulane Brain Institute, Tulane University, New Orleans, Louisiana.
Most Ayesha SiddikaDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Cong GuDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana.
Stryder M MeadowsDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana; Tulane Brain Institute, Tulane University, New Orleans, Louisiana.
Maria J GalazoDepartment of Cell and Molecular Biology, Tulane University, New Orleans, Louisiana; Tulane Brain Institute, Tulane University, New Orleans, Louisiana. Electronic address: mgalazo@tulane.edu.

Funding

Angiopoietin-2 Signaling Targeted Therapeutics for Arteriovenous MalformationsR01HL163196 · NHLBI · TULANE UNIVERSITY OF LOUISIANA · PI MARAMBAUD, PHILIPPE, MEADOWS, STRYDER MEDOAH · 2022 to 2025
$2.7M
Molecular Determinants for In vivo Functional Reprogramming of Cortical Output Neurons and CircuitsR01NS128106 · NINDS · TULANE UNIVERSITY OF LOUISIANA · PI Maria J Galazo · 2022 to 2026
$1.9M
Molecular mechanisms underlying Arteriovenous Malformations associated with HHTR01HL139713 · NHLBI · TULANE UNIVERSITY OF LOUISIANA · PI MEADOWS, STRYDER MEDOAH · 2018 to 2022
$1.8M
NHLBI NIH HHS R01 HL139713NHLBI NIH HHS R01 HL163196NINDS NIH HHS R01 NS128106
6 · The paper itself

Abstract

backgroundDe novo mutations in transcriptional regulators are emerging as key risk factors contributing to the etiology of neurodevelopmental disorders. Human genetic studies have recently identified ZMIZ1 and its de novo mutations as a cause of a neurodevelopmental syndrome strongly associated with intellectual disability, autism, attention-deficit/hyperactivity disorder, microcephaly, and other developmental anomalies. However, the role of ZMIZ1 in brain development or how ZMIZ1 mutations cause neurological phenotypes is unknown.

methodsWe generated forebrain-specific Zmiz1 mutant mice (Zmiz1-knockout) to assess ZMIZ1 function in cortical development. Neural progenitors, excitatory neurons, and glia were assessed using immunolabeling. Neuron-specific reconstruction was applied to callosal projection neurons to analyze dendritic arborization and projection through the corpus callosum. Behavioral tests assessed motor activity, anxiety, communication, and social interactions. RNA sequencing at multiple developmental stages and chromatin immunoprecipitation sequencing (ChIP-seq) revealed molecular pathways and targets regulated by ZMIZ1.

resultsLoss of ZMIZ1 led to cortical microcephaly, corpus callosum dysgenesis, and abnormal differentiation of upper-layer cortical neurons. Zmiz1-knockout mice showed alterations in motor activity, anxiety, communication, and social interactions with strong sex differences, resembling phenotypes associated with autism. Zmiz1 mutation led to transcriptomic changes disrupting neurogenesis, neuron differentiation programs, and synaptic signaling. We identified Zmiz1-mediated downstream regulation of key neurodevelopmental genes, including Lhx2, Auts2, and EfnB2. Importantly, reactivation of the ephrin-B2 pathway rescued the dendritic outgrowth deficits in Zmiz1 mutant cortical neurons.

conclusionsOur in vivo findings provide insight into Zmiz1 function in cortical development and reveal mechanistic underpinnings of ZMIZ1 syndrome, thereby providing valuable information for future studies on this neurodevelopmental disorder.

Indexed as

Autistic DisorderCerebral CortexTranscription FactorsAnimalsCorpus CallosumFemaleMaleMiceMice, KnockoutMicrocephalyNeurodevelopmentNeuronsTranscription FactorsAutismChIP-seqCortical developmentNeurodevelopmental disordersRNA-seqZmiz1

Identifiers

PMID41633496
PMCPMC13474620

What Socratic 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 Socratic graph.