Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities

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

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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

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Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

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22q11.2 deletion syndrome

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Prevalence of disorders of the autism spectrum in a population cohort of children in South Thames: the Special Needs and Autism Project (SNAP)

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Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

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Advances in autism genetics: on the threshold of a new neurobiology

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Transcutaneous Electrical Acupoint Stimulation in Early Life Changes Synaptic Plasticity and Improves Symptoms in a Valproic Acid-Induced Rat Model of Autism

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Dysregulation of Multiple Signaling Neurodevelopmental Pathways during Embryogenesis: A Possible Cause of Autism Spectrum Disorder

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γ-secretase promotes Drosophila postsynaptic development through the cleavage of a Wnt receptor

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Valproic Acid silencing ofascl1b/ascl1results in the failure of serotonergic differentiation in a zebrafish model of Fetal Valproate Syndrome

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Moving From Research to Practice in the Primary Care of Children With Autism Spectrum Disorders

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Mitochondrial Proteostasis Requires Genes Encoded in a Neurodevelopmental Syndrome Locus

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PTEN Loss Increases the Connectivity of Fast Synaptic Motifs and Functional Connectivity in a Developing Hippocampal Network

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Dopaminergic dysfunction in neurodevelopmental disorders: recent advances and synergistic technologies to aid basic research

Robinson, J. E., & Gradinaru, V. (2017) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2017.08.003 · Cited by 34

Genetics of Autism Spectrum Disorders

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Medial prefrontal cortex circuitry and social behaviour in autism

Mediane, D. H., Basu, S., Cahill, E., & Anastasiades, P. G. (2024) · Neuropharmacology · doi:10.1016/j.neuropharm.2024.110101 · Cited by 36

FMRP Regulates Neurogenesis In Vivo in Xenopus laevis Tadpoles

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Characterization of the Statistical Signatures of Micro-Movements Underlying Natural Gait Patterns in Children with Phelan McDermid Syndrome: Towards Precision-Phenotyping of Behavior in ASD

Torres, E. B., Nguyen, J., Mistry, S., Whyatt, C. P., Kalampratsidou, V., & Kolevzon, A. (2016) · Frontiers in Integrative Neuroscience · doi:10.3389/fnint.2016.00022 · Cited by 31

Cortical interactions during the resolution of information processing demands in autism spectrum disorders

Denisova, K., Zhao, G., Wang, Z., Goh, S., Huo, Y., & Peterson, B. S. (2016) · Brain and Behavior · doi:10.1002/brb3.596 · Cited by 31

Essential role for InSyn1 in dystroglycan complex integrity and cognitive behaviors in mice

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De novo missense variants disrupting protein–protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types

Chen, S., Wang, J., Çiçek, A. E., Roeder, K., Yu, H., & Devlin, B. (2020) · Molecular Autism · doi:10.1186/s13229-020-00386-7 · Cited by 33

Dysfunction of NMDA receptors in neuronal models of an autism spectrum disorder patient with a DSCAM mutation and in Dscam-knockout mice

Lim, C., Kim, M. J., Choi, J. E., Islam, M. A., Lee, Y.-K., Xiong, Y., Shim, K.-W., Yang, J.-E., Lee, R. U., Lee, J., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01216-9 · Cited by 34

Distinct Intracellular Signaling Mediates C-MET Regulation of Dendritic Growth and Synaptogenesis

Eagleson, K., Lane, C., McFadyen-Ketchum, L., Solak, S., Wu, H.-H., & Levitt, P. (2016) · Developmental Neurobiology · doi:10.1002/dneu.22382 · Cited by 26

Action potential-coupled Rho GTPase signaling drives presynaptic plasticityPreprint

Dube, S., Rácz, B., Brown, W. E., Gao, Y., Soderblom, E. J., Yasuda, R., & Soderling, S. H. (2020) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2020.10.07.330126 · Cited by 31

Genetic Testing for Global Developmental Delay in Early Childhood

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Evaluation of Synapse Density in Hippocampal Rodent Brain Slices

McLeod, F., Marzo, A., Podpolny, M., Galli, S., & Salinas, P. C. (2017) · Journal of Visualized Experiments · doi:10.3791/56153 · Cited by 31

Temporal proteomic profiling of postnatal human cortical development

Breen, M. S., Özcan, S., Ramsey, J. M., Wang, Z., Ma’ayan, A., Rustogi, N., Gottschalk, M. G., Webster, M. J., Weickert, C. S., Buxbaum, J. D., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0306-4 · Cited by 29

Dissecting the Genetics of Autism Spectrum Disorders: A Drosophila Perspective

Bellosta, P., & Soldano, A. (2019) · Frontiers in Physiology · doi:10.3389/fphys.2019.00987 · Cited by 32

Neurexophilin4 is a selectively expressed α-neurexin ligand that modulates specific cerebellar synapses and motor functions

Meng, X., McGraw, C. M., Wang, W., Jing, J., Yeh, S.-Y., Wang, L., Lopez, J., Brown, A. M., Lin, T., Chen, W., et al. (2019) · eLife · doi:10.7554/elife.46773 · Cited by 35

Autism Spectrum Disorder Symptom Profile Across the RASopathies

Geoffray, M., Falissard, B., Green, J., Kerr, B., Evans, D. G., Huson, S., Burkitt‐Wright, E., & Garg, S. (2021) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2020.585700 · Cited by 40

A Screen for Synaptic Growth Mutants Reveals Mechanisms That Stabilize Synaptic Strength

Goel, P., Khan, M. N., Howard, S., Kim, G., Kiragasi, B., Kikuma, K., & Dickman, D. K. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.2601-18.2019 · Cited by 30

Motoneuron development influences dorsal root ganglia survival and Schwann cell development in a vertebrate model of spinal muscular atrophy

Hao, L. T., Duy, P. Q., Jontes, J. D., & Beattie, C. E. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu447 · Cited by 29

Social Stimulus Causes Aberrant Activation of the Medial Prefrontal Cortex in a Mouse Model With Autism-Like Behaviors

Pirone, A., Alexander, J., Koenig, J. B., Cook-Snyder, D. R., Palnati, M., Wickham, R. J., Eden, L. W., Shrestha, N., Reijmers, L. G. J. E., Biederer, T., et al. (2018) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2018.00035 · Cited by 28

Combined the GABA-A and GABA-B receptor agonists attenuates autistic behaviors in a prenatal valproic acid-induced mouse model of autism

Yang, J., Yang, C., & Yin, B.-Q. (2021) · Behavioural Brain Research · doi:10.1016/j.bbr.2020.113094 · Cited by 32

Wnt-Frizzled Signaling Regulates Activity-Mediated Synapse Formation

Teo, S., & Salinas, P. C. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.683035 · Cited by 29

Elevated progranulin contributes to synaptic and learning deficit due to loss of fragile X mental retardation protein

Zhang, K., Li, Y., Guo, Y., Zheng, K.-Y., Yang, Q., Yang, L., Wang, X., Song, Q., Chen, T., Zhuo, M., et al. (2017) · Brain · doi:10.1093/brain/awx265 · Cited by 30

High Functioning Autism with Missense Mutations in Synaptotagmin-Like Protein 4 (SYTL4) and Transmembrane Protein 187 (TMEM187) Genes: SYTL4- Protein Modeling, Protein-Protein Interaction, Expression Profiling and MicroRNA Studies

Rafi, S. K., Fernández‐Jaén, A., Álvarez, S., Nadeau, O. W., & Butler, M. G. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20133358 · Cited by 26

Low-Level Brain Somatic Mutations Are Implicated in Schizophrenia

Kim, M.-H., Kim, I. B., Lee, J., Cha, D. H., Park, S. M., Kim, J. H., Kim, R., Park, J. S., An, Y., Kim, K., et al. (2021) · Biological Psychiatry · doi:10.1016/j.biopsych.2021.01.014 · Cited by 28

Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders

Onori, M. P., & van Woerden, G. M. (2021) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2021.03.014 · Cited by 30

CDKL5 Deficiency Augments Inhibitory Input into the Dentate Gyrus That Can Be Reversed by Deep Brain Stimulation

Hao, S., Wang, Q., Tang, B., Wu, Z.-Y., Yang, T.-T., & Tang, J.-R. (2021) · Journal of Neuroscience · doi:10.1523/jneurosci.1010-21.2021 · Cited by 21

Dormant state of quiescent neural stem cells links Shank3 mutation to autism development

Kim, H., Cho, B., Park, H., Kim, J., Kim, S., Shin, J., Lengner, C. J., Won, K., & Kim, J. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01563-1 · Cited by 33

MAPK3 at the Autism-Linked Human 16p11.2 Locus Influences Precise Synaptic Target Selection at Drosophila Larval Neuromuscular Junctions

Park, S. M., Park, H. R., & Lee, J. (2017) · Molecules and Cells · doi:10.14348/molcells.2017.2307 · Cited by 26

SYNGAP1 deficiency disrupts synaptic neoteny in xenotransplanted human cortical neurons in vivo

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Expression and function of circular RNAs in the mammalian brain

Xu, K., Zhang, Y., & Li, J. (2021) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-021-03780-3 · Cited by 29

Loss of P2Y12 Has Behavioral Effects in the Adult Mouse

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Astrocyte‐mediated purinergic signaling is upregulated in a mouse model of Fragile X syndrome

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Reciprocal control of translation and transcription in autism spectrum disorder

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The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population

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Alterations in neuronal cytoskeletal and astrocytic proteins content in the brain of the autistic-like mouse strain C58/J

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Immune dysfunction in Alzheimer disease

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Transcriptomic Studies in Mouse Models of Rett Syndrome: A Review

Sanfeliu, A., Kaufmann, W. E., Gill, M., Guasoni, P., & Tropea, D. (2019) · Neuroscience · doi:10.1016/j.neuroscience.2019.06.013 · Cited by 27

Excessive β-Catenin in Excitatory Neurons Results in Reduced Social and Increased Repetitive Behaviors and Altered Expression of Multiple Genes Linked to Human Autism

Alexander, J., Pirone, A., & Jacob, M. H. (2020) · Frontiers in Synaptic Neuroscience · doi:10.3389/fnsyn.2020.00014 · Cited by 25

Low Doses of Arsenic in a Mouse Model of Human Exposure and in Neuronal Culture Lead to S-Nitrosylation of Synaptic Proteins and Apoptosis via Nitric Oxide

Amal, H., Gong, G., Yang, H., Joughin, B. A., Wang, X., Knutson, C. G., Kartawy, M., Халиулин, И. Г., Wishnok, J. S., & Tannenbaum, S. R. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21113948 · Cited by 26

Neurotrophic Factors in Mouse Models of Autism Spectrum Disorder: Focus on BDNF and IGF-1

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Disregulation of Autophagy in the Transgenerational Cc2d1a Mouse Model of Autism

Dana, H., Bayramov, K. K., Delibaşı, N., Tahtasakal, R., Bayramov, R., Hamurcu, Z., & Şener, E. F. (2019) · NeuroMolecular Medicine · doi:10.1007/s12017-019-08579-x · Cited by 26

Advances in Reprogramming-Based Study of Neurologic Disorders

Nityanandam, A., & Baldwin, K. K. (2015) · Stem Cells and Development · doi:10.1089/scd.2015.0044 · Cited by 25

Targeted pharmacological treatment of autism spectrum disorders: fragile X and Rett syndromes

Wang, H., Pati, S. B. B., Pozzo‐Miller, L. D., & Doering, L. C. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00055 · Cited by 28

Poly(I:C) Challenge Alters Brain Expression of Oligodendroglia-Related Genes of Adult Progeny in a Mouse Model of Maternal Immune Activation

Zhang, X., Chen, T., Yan, A., Xiao, J., Xie, Y., Yuan, J., Chen, P., Wong, A., Zhang, Y., & Wong, N.-K. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.00115 · Cited by 26

Distinct patterns of repetition suppression in Fragile X syndrome, down syndrome, tuberous sclerosis complex and mutations in SYNGAP1

Côté, V., Lalancette, È., Knoth, I. S., Côté, L., Agbogba, K., Vannasing, P., Major, P., Barlaam, F., Michaud, J. L., & Lippé, S. (2020) · Brain Research · doi:10.1016/j.brainres.2020.147205 · Cited by 25

Plasma Levels of Alpha and Gamma Synucleins in Autism Spectrum Disorder: An Indicator of Severity

Al-Mazidi, S. H., & AL-Ayadhi, L. Y. (2020) · Medical Principles and Practice · doi:10.1159/000513935 · Cited by 25

Synaptic Plasticity in Mouse Models of Autism Spectrum Disorders

Chung, L., Bey, A. L., & Jiang, Y. (2012) · Korean Journal of Physiology and Pharmacology · doi:10.4196/kjpp.2012.16.6.369 · Cited by 27

Engrailed2 modulates cerebellar granule neuron precursor proliferation, differentiation and insulin-like growth factor 1 signaling during postnatal development

Rossman, I. T., Lin, L., Morgan, K. M., DiGiovine, M. P., Buskirk, E. K. V., Kamdar, S., Millonig, J. H., & DiCicco-Bloom, E. M. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-9 · Cited by 26

Prenatal minocycline treatment alters synaptic protein expression, and rescues reduced mother call rate in oxytocin receptor-knockout mice

Miyazaki, S., Hiraoka, Y., Hidema, S., & Nishimori, K. (2016) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2016.02.109 · Cited by 25

Hepatocyte Growth Factor Modulates MET Receptor Tyrosine Kinase and β-Catenin Functional Interactions to Enhance Synapse Formation

Xie, Z., Eagleson, K. L., Wu, H., & Levitt, P. R. (2016) · eNeuro · doi:10.1523/eneuro.0074-16.2016 · Cited by 26

Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy

Hor, C. H. H., & Tang, B. L. (2018) · Reviews in the Neurosciences · doi:10.1515/revneuro-2018-0045 · Cited by 23

Disrupted Excitatory Synaptic Contacts and Altered Neuronal Network Activity Underpins the Neurological Phenotype in PCDH19-Clustering Epilepsy (PCDH19-CE)

Mincheva-Tasheva, S., Guil, A. F. N., Homan, C. C., Gécz, J., & Thomas, P. Q. (2021) · Molecular Neurobiology · doi:10.1007/s12035-020-02242-4 · Cited by 25

PTEN Activity Defines an Axis for Plasticity at Cortico-Amygdala Synapses and Influences Social Behavior

Sánchez‐Puelles, C., Calleja-Felipe, M., Ouro, A., Bougamra, G., Arroyo, A., Diez, I. P., Erramuzpe, A., Cortés, J. M., Hernández, J. M., Luján, R., et al. (2019) · Cerebral Cortex · doi:10.1093/cercor/bhz103 · Cited by 26

The role of the endocannabinoid system as a therapeutic target for autism spectrum disorder: Lessons from behavioral studies on mouse models

Pietropaolo, S., & Marsicano, G. (2021) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2021.11.031 · Cited by 23

Impairment in social interaction and hippocampal long-term potentiation at perforant pathway-dentate gyrus synapses in a prenatal valproic acid-induced rat model of autism

Mohammadkhani, R., Ghahremani, R., Salehi, I., Safari, S., Karimi, S. A., & Zarei, M. (2022) · Brain Communications · doi:10.1093/braincomms/fcac221 · Cited by 24

Impaired synaptic plasticity in an animal model of autism exhibiting early hippocampal GABAergic-BDNF/TrkB signaling alterations

Sgritta, M., Vignoli, B., Pimpinella, D., Griguoli, M., Santi, S., Bialowas, A., Wiera, G., Zacchi, P., Malerba, F., Marchetti, C., et al. (2022) · iScience · doi:10.1016/j.isci.2022.105728 · Cited by 24

Modeling Autism Spectrum Disorders with Induced Pluripotent Stem Cell-Derived Brain Organoids

Santos, J. L. D. S., Araújo, C. D. A., Rocha, C. A. G., Costa‐Ferro, Z. S. M., & Souza, B. S. D. F. (2023) · Biomolecules · doi:10.3390/biom13020260 · Cited by 29

Visual systemizing preference in children with autism: A randomized controlled trial of intranasal oxytocin

Strathearn, L., Kim, S., Bastian, D. A., Jung, J., Iyengar, U., Martinez, S. R., Goin‐Kochel, R. P., & Fonagy, P. (2017) · Development and Psychopathology · doi:10.1017/s0954579417001018 · Cited by 26

Mir505–3p regulates axonal development via inhibiting the autophagy pathway by targeting Atg12

Yang, K., Yu, B., Cheng, C., Cheng, T., Yuan, B., Li, K., Xiao, J., Qiu, Z., & Zhou, Y. (2017) · Autophagy · doi:10.1080/15548627.2017.1353841 · Cited by 24

Which characteristics predict writing capabilities among adolescents with dysgraphia?

Hen‐Herbst, L., & Rosenblum, S. (2018) · Pattern Recognition Letters · doi:10.1016/j.patrec.2018.04.021 · Cited by 24

Age-Related Cognitive Impairment: Role of Reduced Synaptobrevin-2 Levels in Deficits of Memory and Synaptic Plasticity

Orock, A. M., Logan, S., & Deák, F. (2019) · The Journals of Gerontology Series A · doi:10.1093/gerona/glz013 · Cited by 25

Brpf1 Haploinsufficiency Impairs Dendritic Arborization and Spine Formation, Leading to Cognitive Deficits

Su, Y., Liu, J., Yu, B., Ba, R., & Zhao, C. (2019) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2019.00249 · Cited by 24

The role of the endocannabinoid system in autism spectrum disorders: Evidence from mouse studies

Pietropaolo, S., Bellocchio, L., Bouzón‐Arnáiz, I., & Yee, B. K. (2020) · Progress in molecular biology and translational science · doi:10.1016/bs.pmbts.2020.04.016 · Cited by 24

Cellular and molecular mechanisms underlying autism spectrum disorders and associated comorbidities: A pathophysiological review

Dera, H. S. A. (2022) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2022.112688 · Cited by 26

Improving treatment of neurodevelopmental disorders: recommendations based on preclinical studies

Homberg, J. R., Kyzar, E. J., Stewart, A., Nguyen, M., Poudel, M. K., Echevarria, D. J., Collier, A. D., Gaikwad, S., Клименко, В. М., Norton, W., et al. (2015) · Expert Opinion on Drug Discovery · doi:10.1517/17460441.2016.1115834 · Cited by 24

Fragile X mental retardation protein: from autism to neurodegenerative disease

Wang, H. (2015) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2015.00043 · Cited by 26

Acsl, the Drosophila ortholog of intellectual-disability-related ACSL4, inhibits synaptic growth by altered lipids

Huang, Y., Huang, S., Lam, S. M., Liu, Z., Shui, G., & Zhang, Y. (2016) · Journal of Cell Science · doi:10.1242/jcs.195032 · Cited by 23

Modeling of Autism Using Organoid Technology

Choi, H. G., Song, J., Park, G., & Kim, J. (2016) · Molecular Neurobiology · doi:10.1007/s12035-016-0274-8 · Cited by 24

Uncovering True Cellular Phenotypes: Using Induced Pluripotent Stem Cell-Derived Neurons to Study Early Insults in Neurodevelopmental Disorders

Fink, J. J., & Levine, E. S. (2018) · Frontiers in Neurology · doi:10.3389/fneur.2018.00237 · Cited by 26

Canonical Wnt Signaling Modulates the Expression of Pre- and Postsynaptic Components in Different Temporal Patterns

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Common EIF4E variants modulate risk for autism spectrum disorders in the high-functioning range

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