Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects

Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy

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De novo mutations in schizophrenia implicate synaptic networks

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PTN activity in quiescent neural stem cells mediates Shank3 overexpression-induced manic behavior

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Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome

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Activity Deprivation Modulates the Shank3/Homer1/mGluR5 Signaling Pathway to Enable Synaptic Upscaling

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Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models

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CaMKIIα phosphorylation of Shank3 modulates ABI1-Shank3 interaction

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes

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Shank promotes action potential repolarization by recruiting BK channels to calcium microdomains

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Autistic Traits in Schizophrenia: Immune Mechanisms and Inflammatory Biomarkers

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Transcriptomic analysis in the striatum reveals the involvement of Nurr1 in the social behavior of prenatally valproic acid-exposed male mice

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VTA DA neuron excitatory synapses in Shank3 Δex4–9 mouse line

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Genetic variants in the transcription regulatory region of MEGF10 are associated with autism in Chinese Han population

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Behavioral decline in Shank3Δex4–22 mice during early adulthood parallels cerebellar granule cell glutamatergic synaptic changes

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Better models for brain disease

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Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes

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Adolescent sleep defects and dopaminergic hyperactivity in mice with a schizophrenia-linked Shank3 mutation

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Clustering of Ca V 1 .3 L‐type calcium channels by Shank3

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Early-onset catatonia associated with SHANK3 mutations: looking at the autism spectrum through the prism of psychomotor phenomena

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Spatial and Temporal Gene Function Studies in Rodents: Towards Gene-Based Therapies for Autism Spectrum Disorder

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Enhanced Glutamatergic Currents at Birth in Shank3 KO Mice

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Signal flow in the NMDA receptor–dependent phosphoproteome regulates postsynaptic plasticity for aversive learning

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Myelin dysfunction in autism spectrum disorder: insights into core symptoms and mechanisms of brain development

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Suv39h1 regulates memory stability by inhibiting the expression of Shank1 in hippocampal newborn neurons

Chen, Q., Ding, X., Guo, X., Zhou, G., & Guan, J. (2022) · European Journal of Neuroscience · doi:10.1111/ejn.15626 · Cited by 6

Shank3 mutations enhance early neural responses to deviant tones in dogs

Wu, L., Mei, S., Yu, S. P., Han, S., & Zhang, Y. (2023) · Cerebral Cortex · doi:10.1093/cercor/bhad302 · Cited by 7

Dynamic Change of Shanks Gene mRNA Expression and DNA Methylation in Epileptic Rat Model and Human Patients

Fu, Y., Du, L., Guo, J., Long, H., Xiao, W., Xiao, W., Feng, L., Luo, Z., & Xiao, B. (2020) · Molecular Neurobiology · doi:10.1007/s12035-020-01968-5 · Cited by 7

The Multifaced Perspectives of Genetic Testing in Pediatric Cardiomyopathies and Channelopathies

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Deletion of Schizophrenia Susceptibility Gene Ulk4 Leads to Abnormal Cognitive Behaviors via Akt-GSK-3 Signaling Pathway in Mice

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Autism-associated Shank3 is essential for homeostatic plasticity and neuronal circuit stabilityPreprint

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SHANK2-AS3: A potential biomarker for Parkinson's disease and its role in neuronal apoptosis via NF-κB signaling in SH-SY5Y cells

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Cntn4 Gene Deficiency Promotes Autism-Like Phenotypes Associated with Gut Microbiota Perturbations and Gut-Brain Axis Metabolomic Alterations in Mice

Wang, M., Liang, Z., Zhuang, H., Cao, X., Ma, G., Sun, Y., Yan, X., Ran, X., Guan, H., & Shen, L. (2025) · Molecular Neurobiology · doi:10.1007/s12035-025-05567-0 · Cited by 5

Clmp Regulates AMPA and Kainate Receptor Responses in the Neonatal Hippocampal CA3 and Kainate Seizure Susceptibility in Mice

Jang, S., Yang, E., Kim, D., Kim, H., & Kim, E. (2020) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2020.567075 · Cited by 5

Altered Light Sensitivity of Circadian Clock in Shank3+/– Mouse

Alamilla, J., Ramiro‐Cortés, Y., Mejía-López, A., Chavez, J.-L., Rivera, D. O., Felipe, V., & Aguilar‐Roblero, R. A. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.604165 · Cited by 7

Sapap4deficiency leads to postsynaptic defects and abnormal behaviors relevant to hyperkinetic neuropsychiatric disorder in mice

Wang, T., Bai, Y., Zheng, X., Liu, X., Xing, S. J., Wang, L., Wang, H., Feng, G., & Li, C. (2022) · Cerebral Cortex · doi:10.1093/cercor/bhac123 · Cited by 5

Enhancement of mediodorsal thalamus rescues aberrant belief dynamics in a mouse model with schizophrenia-associated mutationPreprint

Zhou, T., Ho, Y.-Y., Lee, R. X., Fath, A. B., He, K., Scott, J., Bajwa, N., Hartley, N. D., Wilde, J. J., Gao, X., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.01.08.574745 · Cited by 5

Autism-like phenotype across the lifespan of Shank3B-mutant mice of both sexes

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A Frank Assessment of SHANK : Impacts of Pathogenic Variations in SHANK3 on Preclinical Models of Phelan McDermid Syndrome

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SHANK3 genetic polymorphism and susceptibility to ASD: evidence from molecular, in silico, and meta-analysis approaches

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Loss of neuronal βPix isoforms impairs neuronal morphology in the hippocampus and causes behavioral defects

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Neurobiology of Autism Spectrum Disorders

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Autism-related phenotypes in a heterozygous Scn2aR854Q mouse model and their partial rescue via a potassium channel opener

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The Shank3-InsG3680(+/+) mouse model of autism spectrum disorder displays auditory avoidance in a novel behavioral test

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Distinctive Patterns of 5-Methylcytosine and 5-Hydroxymethylcytosine in Schizophrenia

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The Neurobiological Basis for Social Affiliation in Autism Spectrum Disorder and Schizophrenia

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Maternal stress in Shank3ex4-9 mice increases pup-directed care and alters brain white matter in male offspring

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SHANK3 Genotype Mediates Speech and Language Phenotypes in a Nonclinical Population

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From synaptic dysfunction to atypical emotional processing in autism

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Suppression of Cofilin function in the somatosensory cortex alters social contact behavior in the BTBR mouse inbred line

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Mouse Model Systems of Autism Spectrum Disorder: Replicability and Informatics SignaturePreprint

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Triple-phase VPA administration in Sprague-Dawley rats: A cost-effective ASD model unveiling the synaptic-mitochondrial-inflammatory axis as a therapeutic target

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Environmental context modulates sociability in ube3a zebrafish mutants via alterations in sensory pathways

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Myelin, white matter, and social deficits in autism spectrum disorder

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How copy number variations shape brain developmental disorders: Unraveling the synaptic puzzle

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The Relationship Between Using Cannabis, Consuming Isothiocyanate Rich Broccoli, and HDAC Expression in Schizophrenia: A Research Protocol

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Neuropathological insights from SHANK3 mutant animal models

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Decoding Molecular Bases of Rodent Social Hetero-Grooming Behavior Using in Silico Analyses and Bioinformatics Tools

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Whole-exome sequencing of individuals from an isolated population under extreme conditions implicates rare risk variants of schizophrenia

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UHT Cow’s Milk Supplementation Affects Cell Niches and Functions of the Gut–Brain Axis in BALB/c Mice

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Functional genomics of psychiatric disease risk using genome engineering

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Lack of Vesicular Zinc Does Not Affect the Behavioral Phenotype of Polyinosinic:Polycytidylic Acid-Induced Maternal Immune Activation Mice

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Integrative Analysis Identified Key Schizophrenia Risk Factors from an Abnormal Behavior Mouse Gene Set

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Comparing synaptic proteomes across seven mouse models for autism reveals molecular subtypes and deficits in Rho GTPase signalingPreprint

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Adolescent sleep molds adult social preferences

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Comprehensive behavioral characterization and impaired hippocampal synaptic transmission in R1117X Shank3 mutant mice

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Real-time rodent behavior classifier using color-based body segmentation (R2C2)

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Multiple neural networks from cognition to motivation of prosocial behaviour in rodents: Potential mechanism between empathy and autism spectrum disorder

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Nitric Oxide-S-Nitrosylation and Its Role in Neuroinflammation Associated with Neuropsychiatric Conditions

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Region-specific microglial alterations in the acoustic startle circuit in Shank3 mice

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Prefrontal spine loss in neuropsychiatric disorders: circuit consequences for cognition

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Thalamic reticular impairment underlies attention deficit in Ptchd1Y/− mice

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Comparison of Delta- PCR and Conventional Fragment Analysis for the Detection of FLT3-ITD Mutations in Paired Diagnosis-Relapse Samples of Patients with Acute Myeloid Leukemia

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Is There a Natural, Non-addictive, and Non-anti-reward, Safe, Gene-based Solution to Treat Reward Deficiency Syndrome? KB220 Variants vs GLP-1 Analogs.

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Phelan–McDermid Syndrome

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Expansion microscopy : improving imaging through uniform tissue expansion

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Cell adhesion molecules play subclass-specific roles in electrophysiological response and Schizophrenia riskPreprint

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Targeting Schizophrenia

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Autism Mutations Preferentially Target Distributed Brain Circuits and Cell Types Associated with Sensory Integration and Decision MakingPreprint

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Heightened empathic responses led by imbalanced cortico-amygdala circuit in Shank3 autism mouse modelPreprint

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Unraveling the neurogenin/ngn-1 gene regulatory network of C. elegans using classical genetics and comparative transcriptomics

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Adolescent sleep is critical for the developmental shaping of social novelty preferencePreprint

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Rare variations in the SHANK3 gene confers susceptibility to schizophrenia in Uygur Chinese population

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Postnatal inactivation of Shank3 expression is insufficient to produce behavioral phenotypes associated with germline deficiencyPreprint

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Transcriptomic Analysis in the Striatum Reveals an Involvement of Nurr1 in Social Behavior of Prenatally Valproic Acid-Exposed MicePreprint

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Neurodevelopmental Mechanisms for Psychotic Disorders

Gamo, N. J., Sakurai, T., Jaaro-Peled, H., & Sawa, A. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780190681425.003.0019

Neurobiology of Autism Spectrum Disorder and Intellectual Disability

Costales, J. L., Rubeis, S. D., Foss‐Feig, J. H., Hof, P. R., Buxbaum, J. D., & Kolezvon, A. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780190681425.003.0063

Increased paternal corticosterone exposure preconception shifts offspring social behaviours and expression of urinary pheromonesPreprint

Hoffmann, L. B., McVicar, E. A., Harris, R. V., Collar-Fernández, C., Clark, M. B., Hannan, A. J., & Pang, T. Y. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.06.09.495572

Genetic Engineering of Nonhuman Primate Models for Studying Neurodevelopmental Disorders

Suresh, R., Megagiannis, P., Chen, H., Landman, R., Sharma, J., & Zhou, Y. (2022) · Neuromethods · doi:10.1007/978-1-0716-2569-9_12

Decreased expression of ribosomal protein Rpl3 contributes to behavioral deficits caused by Shank3 deficiencyPreprint

Verpelli, C., Giona, F., Beretta, S., Zippo, A. G., Vicidomini, C., Ponzoni, L., Sala, M., Jones, C. K., Conn, P. J., Böckers, T. M., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-2812308/v1

The Usability of Mouse Models to Study the Neural Circuity in Autism Spectrum Disorder: Regulatory Mechanisms of Core Behavioral Symptoms

Arakawa, H., & Higuchi, Y. (2023) · Springer eBooks · doi:10.1007/978-3-031-42383-3_6

Animal Models of ASD

Denucci, B. L. (2023) · Springer eBooks · doi:10.1007/978-3-031-42383-3_4

Epigenetic factors in the 22q11.2 deletion syndrome in relation to stress and schizophreniaPreprint

Jiao, C., Demars, F., Iftimovici, A., He, Q., Kébir, O., Tripathi, A., Turbé, H., Demily, C., Krebs, M., Jay, T. M., et al. (2024) · medRxiv · doi:10.1101/2024.06.23.24309352

Human Cerebral Organoids in Pillar/Perfusion Plates for Modeling Neurodevelopmental Disorders

Acharya, P. (2024) · University of North Texas Digital Library (University of North Texas) · doi:10.12794/metadc2332637

Cortex-Specific Tmem169 Deficiency Induces Defects in Cortical Neuron Development and Autism-Like Behaviors in Mice

Wang, J., Zhang, J., Li, J., Gao, Q., Chen, J., Jia, C., & Gu, X. (2025) · Journal of Neuroscience · doi:10.1523/jneurosci.1072-24.2024

Neurobiology of Autism Spectrum Disorder and Intellectual Disability

Massa, A. L., Costales, J. L., Rubeis, S. D., Foss‐Feig, J. H., Hof, P. R., & Kolevzon, A. L. (2025) · doi:10.1093/med/9780197640654.003.0063

Shank3 establishes AMPA receptor subunit composition at cerebellar mossy fiber-granule cell synapses and shapes regional microglia activationPreprint

Kshetri, R., & Richardson, B. D. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.08.01.668222

Brain-Wide Subnetworks within and between Naturally Socializing Typical and Autism Model MicePreprint

Marmor, O., Terner, R., Khuory, V., Ginzburg, S., Amal, H., & Gilad, A. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.16.682530

Shank3 establishes AMPA receptor subunit composition at cerebellar mossy fiber-granule cell synapses and is associated with altered regional microglial morphology

Kshetri, R., Aameri, R. F. H. A., & Richardson, B. D. (2025) · Neurobiology of Disease · doi:10.1016/j.nbd.2025.107191

Current and emerging tools for studying animal models of sleep and autism

Kyriakakis, P., & Gonzalez, O. C. (2025) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2025.11.031

Comparing great apes reveals human-specific ZEB2 roles in neural development

Lee, J.-E., Jovanović, V., Fonseca, A. J., Streblow, S., Ettig, K., Berto, S., & Nowick, K. (2025) · Molecular Biology and Evolution · doi:10.1093/molbev/msaf318

Additional file 1 of MEK inhibition ameliorates social behavior phenotypes in a Spred1 knockout mouse model for RASopathy disorders

Borrie, S. C., Plasschaert, E., Callaerts‐Vegh, Z., Yoshimura, A., D’Hooge, R., Elgersma, Y., Kushner, S. A., Legius, E., & Brems, H. (2021) · Figshare · doi:10.6084/m9.figshare.15058089

Additional file 2 of Early life sleep disruption potentiates lasting sex-specific changes in behavior in genetically vulnerable Shank3 heterozygous autism model mice

Lord, J. S., Gay, S. M., Harper, K. M., Nikolova, V. D., Smith, K. M., Moy, S. S., & Diering, G. H. (2022) · Figshare · doi:10.6084/m9.figshare.20727811

Additional file 4 of Early life sleep disruption potentiates lasting sex-specific changes in behavior in genetically vulnerable Shank3 heterozygous autism model mice

Lord, J. S., Gay, S. M., Harper, K. M., Nikolova, V. D., Smith, K. M., Moy, S. S., & Diering, G. H. (2022) · Figshare · doi:10.6084/m9.figshare.20727817

SHANK3 Mutations Associated with Autism and Schizophrenia Lead to Shared and Distinct Changes in Dendritic Spine Dynamics in the Developing Mouse Brain

Huang, C., Voglewede, M. M., Ozsen, E. N., Wang, H., & Zhang, H. (2023) · Neuroscience · doi:10.1016/j.neuroscience.2023.07.024 · Cited by 12

De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia

Gauthier, J., Champagne, N., Lafrenière, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Côté, M., Noreau, A., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906232107 · Cited by 369

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

Wang, X., McCoy, P. A., Rodriguiz, R. M., Pan, Y., Je, H. S., Roberts, A. C., Kim, C. J., Berrios, J., Colvin, J. S., Bousquet-Moore, D., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr212 · Cited by 537

Novel Shank3 mutant exhibits behaviors with face validity for autism and altered striatal and hippocampal function

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Juvenile Shank3b Deficient Mice Present With Behavioral Phenotype Consistent With Autism Spectrum Disorder

Balaan, C. (2017) · ScholarSpace (University of Hawaii at Manoa)