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Shank3 mutant mice display autistic-like behaviours and striatal dysfunction

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SHANK family on stem cell fate and development

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A Clinically Relevant Selective ERK-Pathway Inhibitor Reverses Core Deficits in a Mouse Model of Autism

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Targeting epigenetic enzymes for autism treatment

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Targeting Shank3 deficiency and paresthesia in autism spectrum disorder: A brief review

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Association of SHANK Family with Neuropsychiatric Disorders: An Update on Genetic and Animal Model Discoveries

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Homer1a regulates Shank3 expression and underlies behavioral vulnerability to stress in a model of Phelan-McDermid syndrome

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A common epigenetic mechanism across different cellular origins underlies systemic immune dysregulation in an idiopathic autism mouse model

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Insulin-like growth factor 1 regulates excitatory synaptic transmission in pyramidal neurons from adult prefrontal cortex

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Diminished social interaction incentive contributes to social deficits in mouse models of autism spectrum disorder

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Impaired synaptic function and hyperexcitability of the pyramidal neurons in the prefrontal cortex of autism-associated Shank3 mutant dogs

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High-throughput sensitive screening of small molecule modulators of microexon alternative splicing using dual Nano and Firefly luciferase reporters

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Endothelial SHANK3 regulates tight junctions in the neonatal mouse blood-brain barrier through β-Catenin signaling

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Sodium phenylbutyrate reduces repetitive self-grooming behavior and rescues social and cognitive deficits in mouse models of autism

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Astrocytic c-Jun N-terminal kinase-histone deacetylase-2 cascade contributes to glutamate transporter-1 decrease and mechanical allodynia following peripheral nerve injury in rats

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Unexpected Compensatory Increase in Shank3 Transcripts in Shank3 Knock-Out Mice Having Partial Deletions of Exons

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Current trends of high-risk gene Cul3 in neurodevelopmental disorders

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The Neomycin Resistance Cassette in the Targeted Allele of Shank3B Knock-Out Mice Has Potential Off-Target Effects to Produce an Unusual Shank3 Isoform

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Cholinergic neurons in the basal forebrain are involved in behavioral abnormalities associated with Cul3 deficiency: Role of prefrontal cortex projections in cognitive deficits

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Histone Deacetylase Inhibition Restores Behavioral and Synaptic Function in a Mouse Model of 16p11.2 Deletion

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Effects of different doses of lithium on the central nervous system in the rat valproic acid model of autism

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Generational synaptic functions of GABAA receptor β3 subunit deteriorations in an animal model of social deficit

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Exploratory analysis of L1 retrotransposons expression in autism

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Identification of a molecular network regulated by multiple ASD high risk genes

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Early Chronic Memantine Treatment-Induced Transcriptomic Changes in Wild-Type and Shank2-Mutant Mice

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Deletion of CHD8 in cerebellar granule neuron progenitors leads to severe cerebellar hypoplasia, ataxia, and psychiatric behavior in mice

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Transcriptome analyses suggest minimal effects of Shank3 dosage on directional gene expression changes in the mouse striatum

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Epigenetic Interface of Autism Spectrum Disorders (ASDs): Implications of Chromosome 15q11–q13 Segment

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Drug Repurposing Patent Applications March–June 2022

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Unravelling the role of SHANK3 mutations in targeted therapies for autism spectrum disorders

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Promising therapeutic aspects in human genetic imprinting disorders

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YBX1‐Mediated DNA Methylation‐Dependent SHANK3 Expression in PBMCs and Developing Cortical Interneurons in Schizophrenia

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Patient-Derived Stem Cells, Another in vitro Model, or the Missing Link Toward Novel Therapies for Autism Spectrum Disorders?

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Epigenetics and Pharmacoepigenetics of Neurodevelopmental and Neuropsychiatric Disorders

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Systemic histone deacetylase inhibition ameliorates the aberrant responses to acute stress in socially isolated male mice

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Sex‐dependent differences in the ability of nicotine to modulate discrimination learning and cognitive flexibility in mice

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

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Inhibition of histone deacetylase 5 ameliorates abnormalities in 16p11.2 duplication mouse model

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HDAC1-mediated regulation of GABA signaling within the lateral septum facilitates long-lasting social fear extinction in male mice

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Spatiotemporal proteomic atlas of multiple brain regions across early fetal to neonatal stages in cynomolgus monkey

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Reduction of Rpd3 suppresses defects in locomotive ability and neuronal morphology induced by the knockdown of Drosophila SLC25A46 via an epigenetic pathway

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Immune Modulatory Treatments for Autism Spectrum Disorder

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Mdga2 deficiency leads to an aberrant activation of BDNF/TrkB signaling that underlies autism-relevant synaptic and behavioral changes in mice

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Synaptic Deficits in Adnp‐ Mutant Mice Are Ameliorated by Histone Demethylase LSD1 Inhibition

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Advancing precision diagnosis in autism: Insights from large-scale genomic studies

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Gene Dosage- and Age-Dependent Differential Transcriptomic Changes in the Prefrontal Cortex of Shank2-Mutant Mice

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From synapses to circuits: What mouse models have taught us about how autism spectrum disorder impacts hippocampal function

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

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Multiple Recurrent Copy Number Variations (CNVs) in Chromosome 22 Including 22q11.2 Associated with Autism Spectrum Disorder

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A perspective on molecular signalling dysfunction, its clinical relevance and therapeutics in autism spectrum disorder

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Prefrontal cortex excitatory neurons show distinct response to heroin-associated cue and social stimulus after prolonged heroin abstinence in mice

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Cancer drug repurposing in autism spectrum disorder

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Inhibition of GSK3α,β rescues cognitive phenotypes in a preclinical mouse model of CTNNB1 syndrome

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Genome-wide patterns of de novo tandem repeat mutations and their contribution to autism spectrum disordersPreprint

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Evaluation of circulating miRNAs and mRNAs expression patterns in autism spectrum disorder

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Hyperthermia elevates brain temperature and improves behavioural signs in animal models of autism spectrum disorder

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Prenatal caffeine exposure induces autism-like behaviors in offspring under a high-fat diet via the gut microbiota-IL-17A-brain axis

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Targeted intestinal deletion of Rho guanine nucleotide exchange factor 7, βPIX, impairs enterocyte proliferation, villus maturation, and mucosal defenses in mice

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Neurodevelopmental Disorders

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Targeting the Zinc-Dependent Histone Deacetylases (HDACs) for Drug Discovery

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Excess folic acid supplementation before and during pregnancy and lactation activates β-catenin in the brain of male mouse offspring

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Butyrate rescues chlorpyrifos-induced social deficits through inhibition of class I histone deacetylasesPreprint

Diaz, L., Kong, A. X., Zhang, P., Chi, J., Pham, K. T., Johnson, M., Eno, A. F., Douglas, I., Mao, Y., MacDonald, J. W., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.10.19.683261 · Cited by 5

Analyses of Conditional Knockout Mice for Pogz, a Gene Responsible for Neurodevelopmental Disorders in Excitatory and Inhibitory Neurons in the Brain

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Early postnatal NMDA receptor ablation in cortical interneurons impairs affective state discrimination and social functioning

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The Effect of Parental Faecal Microbiome Transplantation from Children with Autism Spectrum Disorder on Behavior and Gastrointestinal Manifestations in the Male Offspring of Shank3 Mice

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HISTORY, EPIDEMIOLOGY, AND PUTATIVE MOLECULAR BASIS OF AUTISM SPECTRUM DISORDER

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The mutated cytoplasmic fragile X messenger ribonucleoprotein 1 (FMR1)‐interacting protein 2 (CYFIP2 S968F) regulates cocaine‐induced reward behaviour and plasticity in the nucleus accumbens

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A systems biology approach for defining the potential molecular framework of idiopathic hypereosinophilic syndrome with cutaneous involvement

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An overview of oxytocin integrative mechanisms in autism spectrum disorder

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Chrysin Ameliorates Valproic Acid Induced Autism Spectrum Behavioral Phenotypes Through Corticohippocampal Histone Deacetylase and Translational Modulation of SHANK3 Expression in Juvenile Rats

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Nitric Oxide-Mediated S-Nitrosylation of TSC2 Drives mTOR dysregulation across Shank3 and Cntnap2 Models of Autism Spectrum Disorder

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Expression of SH3 and Multiple Ankyrin Repeat Domains Protein 3 in Mouse Retina

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A sexually dimorphic signature of activity-dependent BDNF signaling on the intrinsic excitability of pyramidal neurons in the prefrontal cortex

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Transient Inhibition of the Mediodorsal Thalamus During Early Adolescence Induces Hypofrontality and Social Memory Deficits in Young Adulthood

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Linking autism risk genes to morphological and pharmaceutical screening by high‐content imaging: Future directions and opinion

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Autism-modifying therapy based on the promotion of a brain enzyme: An introductory case-report

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Effects of Exercise Training on the Phosphoproteomics of the Medial Prefrontal Cortex in Rats With Autism Spectrum Disorder Induced by Valproic Acid

Tu, G., Guo, Y., Xiao, R., Tang, L., Hu, M., & Liao, B. (2023) · Neurorehabilitation and neural repair · doi:10.1177/15459683231152814 · Cited by 4

Paving the way toward treatment solutions for CTNNB1 syndrome: a patient organization perspective

Miroševič, Š., Khandelwal, S., Amerson, E., Parks, E., Parks, M., Cochran, L., Hernández, A. G., Ferraro, M., Lisowski, L., Perez-Iturralde, A., et al. (2025) · Therapeutic Advances in Rare Disease · doi:10.1177/26330040251318355 · Cited by 3

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signalingPreprint

Amar, M., Pramod, A. B., Yu, N., Herrera, V. M., Qiu, L. R., Losada, P. M., Zhang, P., Trujillo, C. A., Ellegood, J., Urresti, J., et al. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.02.07.939256 · Cited by 3

Male sex hormones increase excitatory neuron production in developing human neocortexPreprint

Kelava, I., Chiaradia, I., Pellegrini, L., Kalinka, A. T., & Lancaster, M. A. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.24.353359 · Cited by 3

Deficiency of the histone lysine demethylase KDM5B causes autism-like phenotypes via increased NMDAR signallingPreprint

Pérez‐Sisqués, L., Bhatt, S., Caruso, A., Ahmed, M. U., Gileadi, T. E., Spring, S., Hendy, E., Taylor‐Papadimitriou, J., Cash, D., Clifton, N. E., et al. (2024) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2024.05.28.596232 · Cited by 3

Lasting effect of psilocybin on sociability can be blocked by DNA methyltransferase inhibitionPreprint

Song, C., Chang, T., Buchborn, T., & Knöpfel, T. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.03.10.642385 · Cited by 4

Chemogenetic Inhibition of Prefrontal Cortex Ameliorates Autism-Like Social Deficits and Absence-Like Seizures in a Gene-Trap Ash1l Haploinsufficiency Mouse Model

Ma, K., McDaniel, K., Zhang, D., Webb, M., & Qin, L. (2024) · Genes · doi:10.3390/genes15121619 · Cited by 2

Epigenetic Mechanisms of Autism Spectrum Disorders

Yan, Z. (2025) · Springer eBooks · doi:10.1007/978-3-031-73368-0_103 · Cited by 2

Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant micePreprint

Ferhat, A.-T. L. S., Verpy, E., Biton, A., Forget, B., de Chaumont, F., Mueller, F., Anne-Marie, L. S., Coqueran, S., Schmitt, J., Rochefort, C., et al. (2022) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2022.01.19.476922 · Cited by 2

Epigenetic changes, neuronal dysregulation and metabolomic abnormalities in Zmym2 mutant mice, a genetic model of schizophrenia and neurodevelopmental disordersPreprint

Huang, W.-C., Mandell, K. A. P., Aryal, S., Song, B. J., Valle-Tojeiro, A., Goble, N., Geng, C., Asan, A. S., Liu, X., Dennis, C., et al. (2025) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2025.02.18.638656 · Cited by 2

Genetic etiology and neurobiological mechanisms of autism spectrum disorders

ZHANG, J., XiangBin, J. I. A., Xia, K., Guo, H., & Li, J. (2024) · Scientia Sinica Vitae · doi:10.1360/ssv-2024-0105 · Cited by 1

The Use of Nutraceutical and Pharmacological Strategies in Murine Models of Autism Spectrum Disorder

Bonetti, M., Borsani, E., & Bonomini, F. (2024) · Cells · doi:10.3390/cells13242036 · Cited by 1

CTNNB1 syndrome mouse models

Lainšček, D., Forstnerič, V., & Miroševič, Š. (2025) · Mammalian Genome · doi:10.1007/s00335-025-10105-3 · Cited by 1

Emerging Epigenetic Therapeutics and Diagnostics for Autism Spectrum Disorder

Kao, C., Lim, K. K., & Chen, E. S. (2025) · Current Issues in Molecular Biology · doi:10.3390/cimb47070491 · Cited by 1

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

Gao, J., Wu, S., Yang, J., Ye, T., Yang, J., Shen, W., Chen, X., Huang, L., Pang, R., Lin, P., et al. (2025) · Translational Psychiatry · doi:10.1038/s41398-025-03505-1 · Cited by 3

Derepression of transposable elements in the mouse prefrontal cortex disrupts social behavior

Kim, R. K., Smith, C. A., Truby, N. L., Strandberg, S. R., Bell, J. L., Carwile, N., Silva, G. M., Neve, R. L., Aung, T., Cui, X., et al. (2025) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2510663122 · Cited by 1

Epigenetic treatment of synaptic and behavioral deficits in Dyrk1a-mutant mice

Lin, C.-H., Yu, M., Patel, P. J., Li, P., & Yan, Z. (2026) · Neuropsychopharmacology · doi:10.1038/s41386-026-02353-x · Cited by 1

Computational approaches for the identification of potential HDAC2 inhibitors and histamine H3 receptor antagonists from Berberis vulgaris : a dual mechanistic approach for autism spectrum disorder treatment

Sarwar, T., Alharbi, H. O. A., Alhumaydhi, F. A., Khan, R. M., & Rahmani, A. H. (2026) · Open Life Sciences · doi:10.1515/biol-2025-1272 · Cited by 1

Autism-like phenotypes and increased NMDAR2D expression in mice with KDM5B histone lysine demethylase deficiency

Pérez‐Sisqués, L., Bhatt, S. R., Caruso, A., Robb, J. L., Donovan, A. P. A., Bamford, R. A., Torres-Cano, A., Spring, S., Hendy, E., Gileadi, T. E., et al. (2026) · Science Advances · doi:10.1126/sciadv.adq6577 · Cited by 1

Cognitive and synaptic impairment induced by deficiency of autism risk gene Smarcc2 and its rescue by histone deacetylase inhibition

Li, P., Men, S., Patel, P. J., Saleem, K., Zhong, P., Tam, K. W., Feng, J., & Yan, Z. (2026) · Molecular Psychiatry · doi:10.1038/s41380-026-03848-1 · Cited by 1

Histone deacetylase 4 inhibition ameliorates the social deficits induced by Ephrin-B2 mutation

Ju, P., Chen, J., Ma, L., Cheng, Y., Liu, J., Sun, Y., Zhu, C., Shen, Z., wang, W., Peng, Y., et al. (2022) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2022.110622 · Cited by 1

Rodent Models for ASD Biomarker Development

Lee, H. H. C., & Şahin, M. (2024) · Advances in neurobiology · doi:10.1007/978-3-031-69491-2_8 · Cited by 2

Phenotype and psychometric characterization of Phelan-McDermid syndrome patients: pioneering towards personalized medicine

Nevado, J. B., Ciceri, F., Fenellós, C. B., Tenorio, J. A., Maes, T., Xaus, J., Buesa, C., & Lapunzina, P. D. (2025) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2025.1511962 · Cited by 1

Synergistic inhibition of histone modifiers produces therapeutic effects in adult Shank3-deficient mice

Zhang, F., Rein, B. A., Zhong, P., Shwani, T., Conrow‐Graham, M., Wang, Z., & Yan, Z. (2021) · Translational Psychiatry · doi:10.1038/s41398-021-01233-w · Cited by 32

Histone deacetylase inhibitor MS-275 restores social and synaptic function in a Shank3-deficient mouse model of autism

Ma, K., Qin, L., Matas, E., Duffney, L. J., Liu, A., & Yan, Z. (2018) · Neuropsychopharmacology · doi:10.1038/s41386-018-0073-1 · Cited by 71

Rescue of histone hypoacetylation and social deficits by ketogenic diet in a Shank3 mouse model of autism

Qin, L., Ma, K., & Yan, Z. (2021) · Neuropsychopharmacology · doi:10.1038/s41386-021-01212-1 · Cited by 43

Amelioration of autism-like social deficits by targeting histone methyltransferases EHMT1/2 in Shank3-deficient mice

Wang, Z.-J., Zhong, P., Ma, K., Seo, J.-S., Yang, F., Hu, Z., Zhang, F., Lin, L., Wang, J., Liu, T., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-019-0351-2 · Cited by 82

An epigenetic target for autism

Liston, C. M. (2018) · Science Translational Medicine · doi:10.1126/scitranslmed.aat4476