Cited by 333Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental DisordersNeurotransmitter Receptor Influence on Behavior

The DOI matches its Crossref record; 76 of the 76 references it cites were found in a registry or an index.

Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

Open access

Veenstra-VanderWeele, Jeremy, Muller, Christopher L., Iwamoto, Hideki, Sauer, Jennifer E., Owens, W. Anthony, Shah, Charisma R., Cohen, Jordan, Mannangatti, Padmanabhan, Jessen, Tammy, Thompson, Brent J., Ye, Ran, Kerr, Travis M., Carneiro, Ana M., Crawley, Jacqueline N., Sanders-Bush, Elaine, McMahon, Douglas G., Ramamoorthy, Sammanda, Daws, Lynette C., Sutcliffe, James S., Blakely, Randy D.·2012·Proceedings of the National Academy of Sciences

DOI 10.1073/pnas.1112345109PMC PMC3325657

Open this paper in CoChat — free account Open PDF

Abstract

Fifty years ago, increased whole-blood serotonin levels, or hyperserotonemia, first linked disrupted 5-HT homeostasis to Autism Spectrum Disorders (ASDs). The 5-HT transporter (SERT) gene ( SLC6A4 ) has been associated with whole blood 5-HT levels and ASD susceptibility. Previously, we identified multiple gain-of-function SERT coding variants in children with ASD. Here we establish that transgenic mice expressing the most common of these variants, SERT Ala56, exhibit elevated, p38 MAPK-dependent transporter phosphorylation, enhanced 5-HT clearance rates and hyperserotonemia. These effects are accompanied by altered basal firing of raphe 5-HT neurons, as well as 5HT 1A and 5HT 2A receptor hypersensitivity. Strikingly, SERT Ala56 mice display alterations in social function, communication, and repetitive behavior. Our efforts provide strong support for the hypothesis that altered 5-HT homeostasis can impact risk for ASD traits and provide a model with construct and face validity that can support further analysis of ASD mechanisms and potentially novel treatments.

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Integrity signals

Registry

Crossref · 10.1073/pnas.1112345109

Cites

76 of 76 references verified0 citation errors · 0 not checkable

Statistics

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

The Mouse Brain in Stereotaxic Coordinates
Paxinos, G. (2001) · Cited by 12,859
Image processing with ImageJ
Abràmoff, M. D., Magalhães, P. J., & Ram, S. J. (2004) · Utrecht University Repository (Utrecht University) · Cited by 11,816
Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision (DSM-IV-TR)
American Psychiatric Association (2000) · doi:10.1176/appi.books.9780890423349 · Cited by 11,069
mouse brain in stereotaxic coordinates
Franklin, K. B. J., & Paxinos, G. (1997) · Cited by 3,258
Crystal structure of a bacterial homologue of Na+/Cl--dependent neurotransmitter transporters
Yamashita, A., Singh, S. K., Kawate, T., Jin, Y., & Gouaux, E. (2005) · Nature · doi:10.1038/nature03978 · Cited by 1,660
Shank3 mutant mice display autistic-like behaviours and striatal dysfunction
Peça, J., Feliciano, C., Ting, J. T., Wang, W., Wells, M. F., Venkatraman, T. N., Lascola, C. D., Fu, Z., & Feng, G. (2011) · Nature · doi:10.1038/nature09965 · Cited by 1,570
Sociability and preference for social novelty in five inbred strains: an approach to assess autistic‐like behavior in mice
Moy, S. S., Nadler, J. J., Perez, A., Barbaro, R. P., Johns, J. M., Magnuson, T. R., Piven, J., & Crawley, J. N. (2004) · Genes, Brain and Behavior · doi:10.1111/j.1601-1848.2004.00076.x · Cited by 1,522
Self-citation
Behavioural phenotyping assays for mouse models of autism
Silverman, J. L., Yang, M., Lord, C., & Crawley, J. N. (2010) · Nature Reviews Neuroscience · doi:10.1038/nrn2851 · Cited by 1,462
Self-citation
Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits
Peñagarikano, O., Abrahams, B. S., Herman, E. I., Winden, K. D., Gdalyahu, A., Dong, H., Sonnenblick, L. I., Gruver, R., Almajano, J., Bragin, A., et al. (2011) · Cell · doi:10.1016/j.cell.2011.08.040 · Cited by 1,075
A Neuroligin-3 Mutation Implicated in Autism Increases Inhibitory Synaptic Transmission in Mice
Tabuchi, K., Blundell, J., Etherton, M. R., Hammer, R. E., Liu, X., Powell, C. M., & Südhof, T. C. (2007) · Science · doi:10.1126/science.1146221 · Cited by 997

Show all 76 references

Sorted by citations

The bowel and beyond: The enteric nervous system in neurological disorders
Rao, M., & Gershon, M. D. (2016) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2016.107 · Cited by 629
The serotonin system in autism spectrum disorder: From biomarker to animal models
Muller, C. L., Anacker, A. M. J., & Veenstra-VanderWeele, J. (2016) · Neuroscience · doi:10.1016/j.neuroscience.2015.11.010 · Cited by 531
Self-citation
The Gut Microbiota and Autism Spectrum Disorders
Li, Q., Han, Y., Dy, A. B. C., & Hagerman, R. J. (2017) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2017.00120 · Cited by 462
cAMP Response Element-Binding Protein (CREB): A Possible Signaling Molecule Link in the Pathophysiology of Schizophrenia
Wang, H., Xu, J., Lazarovici, P., Quirion, R., & Zheng, W. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00255 · Cited by 451
In utero exposure to valproic acid and autism — A current review of clinical and animal studies
Roullet, F., Lai, J., & Foster, J. A. (2013) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2013.01.004 · Cited by 444
Behavioral, Perceptual, and Neural Alterations in Sensory and Multisensory Function in Autism Spectrum Disorder
Baum, S. H., Stevenson, R. A., & Wallace, M. T. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.09.007 · Cited by 370
Blood serotonin levels in autism spectrum disorder: A systematic review and meta-analysis
Gabriele, S., Sacco, R., & Persico, A. M. (2014) · European Neuropsychopharmacology · doi:10.1016/j.euroneuro.2014.02.004 · Cited by 346
Autism spectrum disorder: Consensus guidelines on assessment, treatment and research from the British Association for Psychopharmacology
Howes, O. D., Rogdaki, M., Findon, J. L., Wichers, R. H., Charman, T., King, B. H., Loth, E., McAlonan, G. M., McCracken, J. T., Parr, J. R., et al. (2018) · Journal of Psychopharmacology · doi:10.1177/0269881117741766 · Cited by 342
Serotonin-prefrontal cortical circuitry in anxiety and depression phenotypes: pivotal role of pre- and post-synaptic 5-HT1A receptor expression
Albert, P. R., Vahid-Ansari, F., & Luckhart, C. (2014) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2014.00199 · Cited by 321
A Dialogue between the Immune System and Brain, Spoken in the Language of Serotonin
Baganz, N. L., & Blakely, R. (2012) · ACS Chemical Neuroscience · doi:10.1021/cn300186b · Cited by 316
Self-citation
Altered brain-gut axis in autism: comorbidity or causative mechanisms
Mayer, E. A., Padua, D., & Tillisch, K. (2014) · BioEssays · doi:10.1002/bies.201400075 · Cited by 304
Glyphosate’s Suppression of Cytochrome P450 Enzymes and Amino Acid Biosynthesis by the Gut Microbiome: Pathways to Modern Diseases
Samsel, A., & Seneff, S. (2013) · Entropy · doi:10.3390/e15041416 · Cited by 307
Current Enlightenment About Etiology and Pharmacological Treatment of Autism Spectrum Disorder
Eissa, N., Al‐Houqani, M., Sadeq, A. S., Ojha, S. K., Sasse, A., & Sadek, B. S. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00304 · Cited by 276
5-HT release in nucleus accumbens rescues social deficits in mouse autism model
Walsh, J. J., Christoffel, D. J., Heifets, B. D., Ben-Dor, G. A., Selimbeyoglu, A., Hung, L. W., Deisseroth, K., & Malenka, R. C. (2018) · Nature · doi:10.1038/s41586-018-0416-4 · Cited by 256
The Emerging Picture of Autism Spectrum Disorder: Genetics and Pathology
Chen, J. A., Peñagarikano, O., Belgard, T. G., Swarup, V., & Geschwind, D. H. (2015) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-012414-040405 · Cited by 254
Gastrointestinal issues in autism spectrum disorder
Hsiao, E. Y. (2014) · Harvard Review of Psychiatry · doi:10.1097/hrp.0000000000000029 · Cited by 209
Disorders of the enteric nervous system — a holistic view
Niesler, B., Küerten, S., Demir, İ. E., & Schäfer, K. (2021) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-020-00385-2 · Cited by 209
Serotonergic Mechanisms Regulating the GI Tract: Experimental Evidence and Therapeutic Relevance
Terry, N. A., & Margolis, K. G. (2016) · Handbook of experimental pharmacology · doi:10.1007/164_2016_103 · Cited by 212
Largely typical patterns of resting-state functional connectivity in high-functioning adults with autism
Tyszka, J. M., Kennedy, D. P., Paul, L. K., & Adolphs, R. (2014) · Cerebral Cortex · doi:10.1093/cercor/bht040 · Cited by 187
Behavioral phenotypes of genetic mouse models of autism
Kazdoba, T. M., Leach, P. T., & Crawley, J. N. (2015) · Genes Brain & Behavior · doi:10.1111/gbb.12256 · Cited by 187
Self-citation
Characterizing the interplay between autism spectrum disorder and comorbid medical conditions: an integrative review
Tye, C., Runicles, A. K., Whitehouse, A. J. O., & Alvares, G. A. (2019) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2018.00751 · Cited by 177
The SLC6 transporters: perspectives on structure, functions, regulation, and models for transporter dysfunction
Rudnick, G., Krämer, R., Blakely, R., Murphy, D. L., & Verrey, F. (2013) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-013-1410-1 · Cited by 162
Self-citation
Autism-Relevant Social Abnormalities and Cognitive Deficits in Engrailed-2 Knockout Mice
Brielmaier, J. M., Matteson, P. G., Silverman, J. L., Senerth, J. M., Kelly, S., Genestine, M., Millonig, J. H., DiCicco-Bloom, E. M., & Crawley, J. N. (2012) · PLoS ONE · doi:10.1371/journal.pone.0040914 · Cited by 162
Self-citation
Developing zebrafish models of autism spectrum disorder (ASD)
Stewart, A., Nguyen, M., Wong, K., Poudel, M. K., & Kalueff, A. V. (2013) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2013.11.014 · Cited by 160
Effects of cannabidiol on brain excitation and inhibition systems; a randomised placebo-controlled single dose trial during magnetic resonance spectroscopy in adults with and without autism spectrum disorder
Pretzsch, C. M., Freyberg, J., Voinescu, B., Lythgoe, D. J., Horder, J., Méndez, M. A., Wichers, R., Ajram, L. A., Ivin, G., Heasman, M., et al. (2019) · Neuropsychopharmacology · doi:10.1038/s41386-019-0333-8 · Cited by 161
Neuronal mechanisms and circuits underlying repetitive behaviors in mouse models of autism spectrum disorder
Kim, H., Lim, C., & Kaang, B. (2016) · Behavioral and Brain Functions · doi:10.1186/s12993-016-0087-y · Cited by 162
Mice Genetically Depleted of Brain Serotonin Display Social Impairments, Communication Deficits and Repetitive Behaviors: Possible Relevance to Autism
Kane, M. J., Angoa‐Pérez, M., Briggs, D. I., Sykes, C. E., Francescutti, D. M., Rosenberg, D. R., & Kuhn, D. M. (2012) · PLoS ONE · doi:10.1371/journal.pone.0048975 · Cited by 145
Serotonin transporter variant drives preventable gastrointestinal abnormalities in development and function
Margolis, K. G., Li, Z., Stevanovic, K., Saurman, V., Israelyan, N., Anderson, G. M., Snyder, I., Veenstra-VanderWeele, J., Blakely, R. D., & Gershon, M. D. (2016) · Journal of Clinical Investigation · doi:10.1172/jci84877 · Cited by 139
Self-citation
Exploring sleep quality of young children with autism spectrum disorder and disruptive behaviors
Johnson, C. R., Smith, T. H., DeMand, A., Lecavalier, L., Evans, V., Gurka, M. J., Swiezy, N. B., Bearss, K. E., & Scahill, L. D. (2018) · Sleep Medicine · doi:10.1016/j.sleep.2018.01.008 · Cited by 140
Thalamocortical Dysconnectivity in Autism Spectrum Disorder: An Analysis of the Autism Brain Imaging Data Exchange
Woodward, N. D., Giraldo‐Chica, M., Rogers, B. P., & Cascio, C. J. (2016) · Biological Psychiatry Cognitive Neuroscience and Neuroimaging · doi:10.1016/j.bpsc.2016.09.002 · Cited by 136
The developmental disruptions of serotonin signaling may involved in autism during early brain development
Yang, C.-J., Tan, H.-P., & Du, Y.-J. (2014) · Neuroscience · doi:10.1016/j.neuroscience.2014.02.021 · Cited by 132
The Pro-inflammatory Cytokine TNF-α Regulates the Activity and Expression of the Serotonin Transporter (SERT) in Astrocytes
Malynn, S., Campos‐Torres, A., Moynagh, P. N., & Haase, J. K. (2013) · Neurochemical Research · doi:10.1007/s11064-012-0967-y · Cited by 129
Serotonin as a link between the gut-brain-microbiome axis in autism spectrum disorders
Israelyan, N., & Margolis, K. G. (2018) · Pharmacological Research · doi:10.1016/j.phrs.2018.03.020 · Cited by 122
A descriptive review on the prevalence of gastrointestinal disturbances and their multiple associations in autism spectrum disorder
Lefter, R., Ciobica, A., Timofte, D., Stanciu, C., & Trifan, A. (2019) · Medicina · doi:10.3390/medicina56010011 · Cited by 120
Genetic and non-genetic animal models for autism spectrum disorders (ASD)
Ergaz, Z., Weinstein‐Fudim, L., & Ornoy, A. (2016) · Reproductive Toxicology · doi:10.1016/j.reprotox.2016.04.024 · Cited by 121
Monoamine oxidase A and A/B knockout mice display autistic-like features
Bortolato, M., Godar, S. C., Alzghoul, L., Zhang, J., Darling, R. D., Simpson, K. L., Bini, V., Chen, K., Wellman, C. L., Lin, R. C. S., et al. (2012) · The International Journal of Neuropsychopharmacology · doi:10.1017/s1461145712000715 · Cited by 124
Sleep in Autism Spectrum Disorders
Veatch, O. J., Maxwell-Horn, A. C., & Malow, B. A. (2015) · Current Sleep Medicine Reports · doi:10.1007/s40675-015-0012-1 · Cited by 119
Drosophila melanogaster as a genetic model system to study neurotransmitter transporters
Martin, C. A., & Krantz, D. E. (2014) · Neurochemistry International · doi:10.1016/j.neuint.2014.03.015 · Cited by 112
Functional significance of rare neuroligin 1 variants found in autism
Nakanishi, M., Nomura, J., Ji, X., Tamada, K., Arai, T., Takahashi, E., Bućan, M., & Takumi, T. (2017) · PLoS Genetics · doi:10.1371/journal.pgen.1006940 · Cited by 115
5-HT7 receptors as modulators of neuronal excitability, synaptic transmission and plasticity: physiological role and possible implications in autism spectrum disorders
Ciranna, L., & Catania, M. V. (2014) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2014.00250 · Cited by 109
Enteric Neuronal Regulation of Intestinal Inflammation
Margolis, K. G., & Gershon, M. D. (2016) · Trends in Neurosciences · doi:10.1016/j.tins.2016.06.007 · Cited by 110
Repetitive Restricted Behaviors in Autism Spectrum Disorder: From Mechanism to Development of Therapeutics
Tian, J., Gao, X., & Yang, L. (2022) · Frontiers in Neuroscience · doi:10.3389/fnins.2022.780407 · Cited by 136
The effect of cannabidiol (CBD) on low-frequency activity and functional connectivity in the brain of adults with and without autism spectrum disorder (ASD)
Pretzsch, C. M., Voinescu, B., Méndez, M. A., Wichers, R., Ajram, L. A., Ivin, G., Heasman, M., Williams, S., Murphy, D., Daly, E., et al. (2019) · Journal of Psychopharmacology · doi:10.1177/0269881119858306 · Cited by 108
Serotonin neuron development: shaping molecular and structural identities
Deneris, E. S., & Gaspar, P. (2017) · Wiley Interdisciplinary Reviews Developmental Biology · doi:10.1002/wdev.301 · Cited by 120
Intestinal inflammation in a murine model of autism spectrum disorders
de Theije, C. G. M., Koelink, P. J., Korte-Bouws, G. A. H., da Silva, S. L., Korte, S. M., Olivier, B., Garssen, J., & Kraneveld, A. D. (2013) · Brain Behavior and Immunity · doi:10.1016/j.bbi.2013.12.004 · Cited by 103
Kinase-dependent Regulation of Monoamine Neurotransmitter Transporters
Bermingham, D. P., & Blakely, R. D. (2016) · Pharmacological Reviews · doi:10.1124/pr.115.012260 · Cited by 97
Self-citation
Vitamin A improves the symptoms of autism spectrum disorders and decreases 5-hydroxytryptamine (5-HT): A pilot study
Guo, M., Zhu, J., Yang, T., Lai, X., Liu, X., Liu, J., Chen, J., & Li, T. (2017) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2017.11.001 · Cited by 107
Autism Spectrum Disorders and the Gastrointestinal Tract: Insights into Mechanisms and Clinical Relevance
Hung, L. Y., & Margolis, K. G. (2024) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/s41575-023-00857-1 · Cited by 96
Immune System Activation and Depression: Roles of Serotonin in the Central Nervous System and Periphery
Robson, M. J., Quinlan, M. A., & Blakely, R. (2017) · ACS Chemical Neuroscience · doi:10.1021/acschemneuro.6b00412 · Cited by 96
Self-citation
Wnt/β‐catenin signaling in brain development and mental disorders: keeping TCF7L2 in mind
Bem, J., Brożko, N., Chakraborty, C., Lipiec, M. A., Koziński, K., Nagalski, A., Szewczyk, Ł. M., & Wisniewska, M. B. (2019) · FEBS Letters · doi:10.1002/1873-3468.13502 · Cited by 96
Neural Mechanisms Underlying Repetitive Behaviors in Rodent Models of Autism Spectrum Disorders
Gandhi, T., & Lee, C. C. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2020.592710 · Cited by 97
Trophoblast Inclusions Are Significantly Increased in the Placentas of Children in Families at Risk for Autism
Walker, C. K., Anderson, K. W., Milano, K. M., Ye, S., Tancredi, D. J., Pessah, I. N., Hertz‐Picciotto, I., & Kliman, H. J. (2013) · Biological Psychiatry · doi:10.1016/j.biopsych.2013.03.006 · Cited by 94
Of mice and monkeys: using non-human primate models to bridge mouse- and human-based investigations of autism spectrum disorders
Watson, K. K., & Platt, M. L. (2012) · Journal of Neurodevelopmental Disorders · doi:10.1186/1866-1955-4-21 · Cited by 91
The Disruption ofCelf6, a Gene Identified by Translational Profiling of Serotonergic Neurons, Results in Autism-Related Behaviors
Dougherty, J. D., Maloney, S. E., Wozniak, D. F., Rieger, M. A., Sonnenblick, L. I., Coppola, G., Mahieu, N. G., Zhang, J., Cai, J., Patti, G. J., et al. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.4762-12.2013 · Cited by 88
Ultrasonic vocalizations as a fundamental tool for early and adult behavioral phenotyping of Autism Spectrum Disorder rodent models
Caruso, A., Ricceri, L., & Scattoni, M. L. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.06.011 · Cited by 87
Reprint of: Serotonin as a link between the gut-brain-microbiome axis in autism spectrum disorders
Israelyan, N., & Margolis, K. G. (2019) · Pharmacological Research · doi:10.1016/j.phrs.2018.12.023 · Cited by 87
Gestational Factors throughout Fetal Neurodevelopment: The Serotonin Link
Hanswijk, S. I., Spoelder, M., Shan, L., Verheij, M. M. M., Muilwijk, O. G., Li, W., Liu, C., Kolk, S. M., & Homberg, J. R. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21165850 · Cited by 86
Modeling environmental risk factors of autism in mice induces IBD-related gut microbial dysbiosis and hyperserotonemia
Lim, J. S., Lim, M. Y., Choi, Y., & Ko, G. (2017) · Molecular Brain · doi:10.1186/s13041-017-0292-0 · Cited by 89
The Brain-Gut-Microbiome System: Pathways and Implications for Autism Spectrum Disorder
Chernikova, M. A., Flores, G. D., Kilroy, E., Labus, J. S., Mayer, E. A., & Aziz‐Zadeh, L. (2021) · Nutrients · doi:10.3390/nu13124497 · Cited by 93
Bipolar disorder in adults with Asperger׳s Syndrome: A systematic review
Vannucchi, G., Masi, G., Toni, C., Dell’Osso, L., Erfurth, A., & Perugi, G. (2014) · Journal of Affective Disorders · doi:10.1016/j.jad.2014.06.042 · Cited by 96
Extreme enhancement or depletion of serotonin transporter function and serotonin availability in autism spectrum disorder
Garbarino, V. R., Gilman, T. L., Daws, L. C., & Gould, G. G. (2018) · Pharmacological Research · doi:10.1016/j.phrs.2018.07.010 · Cited by 85
Self-citation
Autism Biomarkers: Challenges, Pitfalls and Possibilities
Anderson, G. M. (2014) · Journal of Autism and Developmental Disorders · doi:10.1007/s10803-014-2225-4 · Cited by 86
Understanding autism and other neurodevelopmental disorders through experimental translational neurobehavioral models
Homberg, J. R., Kyzar, E. J., Nguyen, M., Norton, W., Pittman, J. T., Poudel, M. K., Gaikwad, S., Nakamura, S., Koshiba, M., Yamanouchi, H., et al. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.03.013 · Cited by 86
The combined role of serotonin and interleukin-6 as biomarker for autism
Yang, C.-J., Liu, C.-L., Sang, B., Zhu, X.-M., & Du, Y.-J. (2015) · Neuroscience · doi:10.1016/j.neuroscience.2014.10.011 · Cited by 80
Serotonin and serotonin transporter levels in autistic children
Abdulamir, H. A., Abdul‐Rasheed, O. F., & Abdulghani, E. A. (2018) · Saudi Medical Journal · doi:10.15537/smj.2018.5.21751 · Cited by 84
Risperidone and the 5‐ HT2A Receptor Antagonist M 100907 Improve Probabilistic Reversal Learning in BTBR T + tf / J Mice
Amodeo, D. A., Jones, J. H., Sweeney, J. A., & Ragozzino, M. E. (2014) · Autism Research · doi:10.1002/aur.1395 · Cited by 79
Combined prenatal and postnatal butyl paraben exposure produces autism-like symptoms in offspring: Comparison with valproic acid autistic model
Ali, E. H. A., & Elgoly, A. H. M. (2013) · Pharmacology Biochemistry and Behavior · doi:10.1016/j.pbb.2013.08.016 · Cited by 81
Reduced isolation-induced pup ultrasonic communication in mouse pups lacking brain serotonin
Mosienko, V., Beis, D. M., Alenina, N. V., & Wöhr, M. (2015) · Molecular Autism · doi:10.1186/s13229-015-0003-6 · Cited by 76
Single Molecule Analysis of Serotonin Transporter Regulation Using Antagonist-Conjugated Quantum Dots Reveals Restricted, p38 MAPK-Dependent Mobilization Underlying Uptake Activation
Chang, J. C., Tomlinson, I. D., Warnement, M. R., Ustione, A., Carneiro, A. M. D., Piston, D. W., Blakely, R., & Rosenthal, S. J. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.0048-12.2012 · Cited by 78
Self-citation
Photoperiod Programs Dorsal Raphe Serotonergic Neurons and Affective Behaviors
Green, N. H., Jackson, C. R., Iwamoto, H., Tackenberg, M. C., & McMahon, D. G. (2015) · Current Biology · doi:10.1016/j.cub.2015.03.050 · Cited by 73
Self-citation
Impact of Maternal Serotonin Transporter Genotype on Placental Serotonin, Fetal Forebrain Serotonin, and Neurodevelopment
Muller, C. L., Anacker, A. M. J., Rogers, T. D., Goeden, N., Keller, E. H., Forsberg, C. G., Kerr, T. M., Wender, C. L. A., Anderson, G. M., Stanwood, G. D., et al. (2016) · Neuropsychopharmacology · doi:10.1038/npp.2016.166 · Cited by 80
Self-citation
The rare DAT coding variant Val559 perturbs DA neuron function, changes behavior, and alters in vivo responses to psychostimulants
Mergy, M. A., Gowrishankar, R., Gresch, P. J., Gantz, S. C., Williams, J. T., Davis, G. L., Wheeler, C. A., Stanwood, G. D., Hahn, M. K., & Blakely, R. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1417294111 · Cited by 71
Self-citation
Neural circuits regulating prosocial behaviors
Walsh, J. J., Christoffel, D. J., & Malenka, R. C. (2023) · Neuropsychopharmacology · doi:10.1038/s41386-022-01348-8 · Cited by 72
Biomarkers for Psychiatric Disorders: Where Are We Standing?
Martins‐de‐Souza, D. (2013) · Disease Markers · doi:10.1155/2013/321071 · Cited by 78
Differential regulation of observational fear and neural oscillations by serotonin and dopamine in the mouse anterior cingulate cortex
Kim, B. S., Lee, J., Bang, M., Seo, B. A., Khalid, A., Jung, M. W., & Jeon, D. (2014) · Psychopharmacology · doi:10.1007/s00213-014-3581-7 · Cited by 65
Disruption of Transient Serotonin Accumulation by Non-Serotonin-Producing Neurons Impairs Cortical Map Development
Chen, X., Ye, R., Gargus, J. J., Blakely, R., Dobrenis, K., & Sze, J. Y. (2015) · Cell Reports · doi:10.1016/j.celrep.2014.12.033 · Cited by 67
Self-citation
Targets for Drug Therapy for Autism Spectrum Disorder: Challenges and Future Directions
Lacivita, E., Perrone, R., Margari, L., & Leopoldo, M. (2017) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.7b00965 · Cited by 66
Serotonin transporter availability in adults with autism—a positron emission tomography study
Andersson, M., Tangen, Ä., Farde, L., Bölte, S., Halldin, C., Borg, J., & Lundberg, J. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-00868-3 · Cited by 64
Biological Timing and Neurodevelopmental Disorders: A Role for Circadian Dysfunction in Autism Spectrum Disorders
Lorsung, E., Ramanujam, K., & Cao, R. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.642745 · Cited by 67
Novel aspects of enteric serotonergic signaling in health and brain-gut disease
Colle, A. D., Israelyan, N., & Margolis, K. G. (2019) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00173.2019 · Cited by 69
Progranulin haploinsufficiency causes biphasic social dominance abnormalities in the tube test
Arrant, A. E., Filiano, A. J., Warmus, B. A., Hall, A. M., & Roberson, E. D. (2016) · Genes Brain & Behavior · doi:10.1111/gbb.12300 · Cited by 61
The Impact of Gut Microbiota-Derived Metabolites in Autism Spectrum Disorders
Marzal, L. N. P., Prince, N., Bajić, D., Roussin, L., Naudon, L., Rabot, S., Garssen, J., Kraneveld, A. D., & Perez‐Pardo, P. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms221810052 · Cited by 67
Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette's disorder
Moya, P. R., Wendland, J. R., Rubenstein, L. M., Timpano, K. R., Heiman, G. A., Tischfield, J. A., King, R. A., Andrews, A. M., Ramamoorthy, S., McMahon, F. J., et al. (2013) · Movement Disorders · doi:10.1002/mds.25460 · Cited by 58
Self-citation
Leveraging blood serotonin as an endophenotype to identify de novo and rare variants involved in autism
Chen, R., Davis, L. K., Guter, S. J., Wei, Q., Jacob, S., Potter, M. H., Cox, N. J., Cook, E. H., Sutcliffe, J. S., & Li, B. (2017) · Molecular Autism · doi:10.1186/s13229-017-0130-3 · Cited by 59
Self-citation
Enhanced Aggressive Behaviour in a Mouse Model of Depression
Yang, C., Bai, Y., Ruan, C., Zhou, H., Liu, D., Wang, X., Shen, L., Zheng, H. Y., & Zhou, X. (2014) · Neurotoxicity Research · doi:10.1007/s12640-014-9498-4 · Cited by 61
p38α MAPK signaling drives pharmacologically reversible brain and gastrointestinal phenotypes in the SERT Ala56 mouse
Robson, M. J., Quinlan, M. A., Margolis, K. G., Gajewski-Kurdziel, P. A., Veenstra-VanderWeele, J. M., Gershon, M. D., Watterson, D. M., & Blakely, R. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1809137115 · Cited by 58
Self-citation
Gastrointestinal dysfunction in autism displayed by altered motility and achalasia in Foxp1 +/− mice
Fröhlich, H., Kollmeyer, M. L., Linz, V. C., Stuhlinger, M., Groneberg, D., Reigl, A., Zizer, E., Friebe, A., Niesler, B., & Rappold, G. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1911429116 · Cited by 57
Systemic enhancement of serotonin signaling reverses social deficits in multiple mouse models for ASD
Walsh, J. J., Llorach, P., Cardozo Pinto, D. F., Wenderski, W., Christoffel, D. J., Salgado, J. S., Heifets, B. D., Crabtree, G. R., & Malenka, R. C. (2021) · Neuropsychopharmacology · doi:10.1038/s41386-021-01091-6 · Cited by 56
Acute dietary tryptophan manipulation differentially alters social behavior, brain serotonin and plasma corticosterone in three inbred mouse strains
Zhang, W. Q., Smolik, C. M., Barba-Escobedo, P. A., Gamez, M., Sanchez, J. J., Javors, M. A., Daws, L. C., & Gould, G. G. (2014) · Neuropharmacology · doi:10.1016/j.neuropharm.2014.10.024 · Cited by 56
Self-citation
Mechanism of Paroxetine (Paxil) Inhibition of the Serotonin Transporter
Davis, B. A., Nagarajan, A., Forrest, L. R., & Singh, S. K. (2016) · Scientific Reports · doi:10.1038/srep23789 · Cited by 56
A review of the serotonin transporter and prenatal cortisol in the development of autism spectrum disorders
Rose’Meyer, R. B. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-37 · Cited by 58
5HT2A receptor blockade in dorsomedial striatum reduces repetitive behaviors in BTBR mice
Amodeo, D. A., Rivera, E., Cook, E. H., Sweeney, J. A., & Ragozzino, M. E. (2016) · Genes Brain & Behavior · doi:10.1111/gbb.12343 · Cited by 56
Early Behavioral Abnormalities and Perinatal Alterations of PTEN/AKT Pathway in Valproic Acid Autism Model Mice
Yang, E.-J., Ahn, S., Lee, K., Mahmood, U., & Kim, H. (2016) · PLoS ONE · doi:10.1371/journal.pone.0153298 · Cited by 56
Toward manipulating serotonin signaling via the microbiota–gut–brain axis
Everett, B. A., Tran, P., & Prindle, A. B. (2022) · Current Opinion in Biotechnology · doi:10.1016/j.copbio.2022.102826 · Cited by 52
An autism-associated serotonin transporter variant disrupts multisensory processing
Siemann, J. K., Muller, C. L., Forsberg, C. G., Blakely, R., Veenstra-VanderWeele, J. M., & Wallace, M. T. (2017) · Translational Psychiatry · doi:10.1038/tp.2017.17 · Cited by 54
Self-citation
Functional and Biochemical Consequences of Disease Variants in Neurotransmitter Transporters: A Special Emphasis on Folding and Trafficking Deficits
Bhat, S., El‐Kasaby, A., Freissmuth, M., & Sučić, S. (2020) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2020.107785 · Cited by 53
Serotonin neuron abnormalities in the BTBR mouse model of autism
Guo, Y., & Commons, K. G. (2017) · Autism Research · doi:10.1002/aur.1665 · Cited by 51
Altered Serotonin, Dopamine and Norepinepherine Levels in 15q Duplication and Angelman Syndrome Mouse Models
Farook, M. F., DeCuypere, M. G., Hyland, Κ., Takumi, T., LeDoux, M. S., & Reiter, L. T. (2012) · PLoS ONE · doi:10.1371/journal.pone.0043030 · Cited by 50
Dendritic spine anomalies and PTEN alterations in a mouse model of VPA-induced autism spectrum disorder
Mahmood, U., Ahn, S., Yang, E.-J., Choi, M., Kim, H.-J., Regan, P. L., Cho, K., & Kim, H.-S. (2017) · Pharmacological Research · doi:10.1016/j.phrs.2017.08.006 · Cited by 54
Diagnostic and Severity-Tracking Biomarkers for Autism Spectrum Disorder
Bjørklund, G., Meguid, N. A., El-Ansary, A. K., El‐Bana, M. A., Dadar, M., Aaseth, J., Hemimi, M., Osredkar, J., & Chirumbolo, S. (2018) · Journal of Molecular Neuroscience · doi:10.1007/s12031-018-1192-1 · Cited by 54

Authors: Veenstra-VanderWeele, J., Muller, C. L., Iwamoto, H., Sauer, J. E., Owens, W. A., Shah, C. R., Cohen, J., Mannangatti, P., Jessen, T., Thompson, B. J., Ye, R., Kerr, T. M., Carneiro, A. M., Crawley, J. N., Sanders-Bush, E., McMahon, D. G., Ramamoorthy, S., Daws, L. C., Sutcliffe, J. S., & Blakely, R. D.
Affiliations: Vanderbilt University (US)
The University of Texas at San Antonio Health Science Center (US)
National Institutes of Health (US)
Departments of aPsychiatry,
ORCID: Veenstra-VanderWeele, Jeremy
Cohen, Jordan
Mannangatti, Padmanabhan
Jessen, Tammy
Thompson, Brent J.
Carneiro, Ana M.
Crawley, Jacqueline N.
McMahon, Douglas G.
Ramamoorthy, Sammanda
Daws, Lynette C.
Sutcliffe, James S.
Blakely, Randy D.
Venue: Proceedings of the National Academy of Sciences
Publisher: National Academy of Sciences
Published: 2012-03-19
Volume: 109
Issue: 14
Pages: 5469-5474
ISSN: 0027-8424 (ISSN-L)
1091-6490
DOI: 10.1073/pnas.1112345109
PMC: PMC3325657
OpenAlex: W2104220482
Cited by: 333
References: 76
Citations by year: 2026: 11 · 2025: 9 · 2024: 18 · 2023: 17 · 2022: 21 · 2021: 26 · 2020: 20 · 2019: 25 · 2018: 23 · 2017: 27 · 2016: 33 · 2015: 23 · 2014: 29 · 2013: 33 · 2012: 18
FWCI: 16.85
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Proceedings of the National Academy of Sciences (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Funders: Autism Speaks (AS2429)
Vanderbilt University (HD15052)
Vanderbilt Institute for Clinical and Translational Research (RR024975)
H. Lundbeck A/S
National Institutes of Health (HD-15052, RR024975)
Vanderbilt Kennedy Center, Vanderbilt University Medical Center
National Institute of Mental Health (R01MH094527, K08MH081066, MH081066, MH078098, R01MH062612, MH094604, MH-62612, R01MH094604, R03MH078098)
National Institute on Drug Abuse (DA-07390, R01DA007390)
National Center for Research Resources (RR024975, KL2RR024977, TL1RR024978, UL1RR024975)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P30HD015052, HD 15052, HD065278, R01HD065278)
Topics: Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neurotransmitter Receptor Influence on Behavior
Keywords: autism spectrum disorder, hyperserotonemia, serotonin transporter, gain-of-function mutations, p38 MAPK, serotonin clearance, raphe neurons, 5-HT1A receptor, 5-HT2A receptor, receptor hypersensitivity, social dysfunction, repetitive behavior, transgenic mouse model
MeSH terms: Animals, Autistic Disorder, Disease Models, Animal, Homeostasis, Receptors, Serotonin, Serotonin, Social Behavior, Stereotyped Behavior, Mice

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

Autism gene variant causes hyperserotonemia, serotonin receptor hypersensitivity, social impairment and repetitive behavior

Abstract

Overview

Integrity signals

Verification

Claims the paper makes

Claims other papers make about this one

Self-check

Citations

Cites

Cited by

Related

Metadata

Record

About these checks