Cited by 1,168Genetics and Neurodevelopmental DisordersNeuroscience and Neuropharmacology ResearchAutism Spectrum Disorder Research

The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

Open access

Chao, Hsiao-Tuan, Chen, Hongmei, Samaco, Rodney C., Xue, Mingshan, Chahrour, Maria, Yoo, Jong, Neul, Jeffrey L., Gong, Shiaoching, Lu, Hui-Chen, Heintz, Nathaniel, Ekker, Marc, Rubenstein, John L. R., Noebels, Jeffrey L., Rosenmund, Christian, Zoghbi, Huda Y.·2010·Nature

DOI 10.1038/nature09582PMC PMC3057962

Open this paper in CoChat — free account

Abstract

Mutations in the X-linked MECP2 gene, which encodes the transcriptional regulator methyl-CpG-binding protein 2 (MeCP2), cause Rett syndrome and several neurodevelopmental disorders including cognitive disorders, autism, juvenile-onset schizophrenia and encephalopathy with early lethality. Rett syndrome is characterized by apparently normal early development followed by regression, motor abnormalities, seizures and features of autism, especially stereotyped behaviours. The mechanisms mediating these features are poorly understood. Here we show that mice lacking Mecp2 from GABA (γ-aminobutyric acid)-releasing neurons recapitulate numerous Rett syndrome and autistic features, including repetitive behaviours. Loss of MeCP2 from a subset of forebrain GABAergic neurons also recapitulates many features of Rett syndrome. MeCP2-deficient GABAergic neurons show reduced inhibitory quantal size, consistent with a presynaptic reduction in glutamic acid decarboxylase 1 (Gad1) and glutamic acid decarboxylase 2 (Gad2) levels, and GABA immunoreactivity. These data demonstrate that MeCP2 is critical for normal function of GABA-releasing neurons and that subtle dysfunction of GABAergic neurons contributes to numerous neuropsychiatric phenotypes.

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 · 10.1038/nature09582

Cites

51 of 51 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.

Epigenetic Regulations of GABAergic Neurotransmission: Relevance for Neurological Disorders and Epigenetic Therapy
Shrestha, S., & Offer, S. M. (2016) · Medical Epigenetics · doi:10.1159/000444713 · Cited by 8,951
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Self-citation
Cre reporter strains produced by targeted insertion of EYFP and ECFP into the ROSA26 locus
Srinivas, S., Watanabe, T., Lin, C.-S., William, C. M., Tanabe, Y., Jessell, T. M., & Costantini, F. (2001) · BMC Developmental Biology · doi:10.1186/1471-213x-1-4 · Cited by 3,121
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
Guy, J., Hendrich, B., Holmes, M., Martin, J. E., & Bird, A. (2001) · Nature Genetics · doi:10.1038/85899 · Cited by 1,558
A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases
Hagberg, B. A., Aicardi, J. F., Dias, K., & Ramos, O. (1983) · Annals of Neurology · doi:10.1002/ana.410140412 · Cited by 1,515
DNA Methylation-Related Chromatin Remodeling in Activity-Dependent Bdnf Gene Regulation
Martinowich, K., Hattori, D., Wu, H., Fouse, S., He, F., Hu, Y., Fan, G., & Sun, Y. E. (2003) · Science · doi:10.1126/science.1090842 · Cited by 1,405
Subregion- and Cell Type–Restricted Gene Knockout in Mouse Brain
Tsien, J. Z., Chen, D. F., Gerber, D., Tom, C., Mercer, E. H., Anderson, D. J., Mayford, M., Kandel, E. R., & Tonegawa, S. (1996) · Cell · doi:10.1016/s0092-8674(00)81826-7 · Cited by 1,280
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
Chen, R. Z., Akbarian, S., Tudor, M., & Jaenisch, R. (2001) · Nature Genetics · doi:10.1038/85906 · Cited by 1,275
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265
Self-citation
Derepression of BDNF Transcription Involves Calcium-Dependent Phosphorylation of MeCP2
Chen, W. G., Chang, Q., Lin, Y., Meissner, A., West, A. E., Griffith, E. C., Jaenisch, R., & Greenberg, M. E. (2003) · Science · doi:10.1126/science.1086446 · Cited by 1,232

Flagged first, then by citations

Show all 51 references

Sorted by citations

Items 301–400 of 998

GABA and Glutamate Pathways Are Spatially and Developmentally Affected in the Brain of Mecp2-Deficient Mice
Khoury, R. E., Panayotis, N., Matagne, V., Ghata, A. S., Villard, L., & Roux, J. (2014) · PLoS ONE · doi:10.1371/journal.pone.0092169 · Cited by 66
Regulation of mRNA splicing by MeCP2 via epigenetic modifications in the brain
Cheng, T., Chen, J., Wan, H., Tang, B., Tian, W., Liao, L., & Qiu, Z. (2017) · Scientific Reports · doi:10.1038/srep42790 · Cited by 64
Respiratory Network Stability and Modulatory Response to Substance P Require Nalcn
Yeh, S.-Y., Huang, W., Wang, W., Ward, C. S., Chao, E. S., Wu, Z., Tang, B., Tang, J., Sun, J. J., van der Heijden, M. E., et al. (2017) · Neuron · doi:10.1016/j.neuron.2017.03.024 · Cited by 65
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
Mafb and c-Maf Have Prenatal Compensatory and Postnatal Antagonistic Roles in Cortical Interneuron Fate and Function
Pai, E. L.-L., Vogt, D. L., Clemente-Perez, A., McKinsey, G. L., Cho, F. S., Hu, J. S., Wimer, M., Paul, A., Darbandi, S. F., Pla, R., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.01.031 · Cited by 66
Self-citation
Whole brain delivery of an instability-prone Mecp2 transgene improves behavioral and molecular pathological defects in mouse models of Rett syndrome
Luoni, M., Giannelli, S., Indrigo, M. T., Niro, A., Massimino, L., Iannielli, A., Passeri, L., Russo, F., Morabito, G., Calamita, P., et al. (2020) · eLife · doi:10.7554/elife.52629 · Cited by 65
Generating Human Neurons In Vitro and Using Them to Understand Neuropsychiatric Disease
Pașca, S. P., Panagiotakos, G., & Dolmetsch, R. E. (2014) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-062012-170328 · Cited by 68
Genetic Landscape of Rett Syndrome Spectrum: Improvements and Challenges
Vidal, S., Xiol, C., Pascual‐Alonso, A., O’Callaghan, M., Pineda, M., & Armstrong, J. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20163925 · Cited by 65
Hippocampal gamma and sharp-wave ripple oscillations are altered in a Cntnap2 mouse model of autism spectrum disorder
Paternò, R., Marafiga, J. R., Ramsay, H. J., Li, T., Salvati, K. A., & Baraban, S. C. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109970 · Cited by 74
Postsynaptic autism spectrum disorder genes and synaptic dysfunction
Bonsi, P., Jaco, A. D., Fasano, L., & Gubellini, P. (2021) · Neurobiology of Disease · doi:10.1016/j.nbd.2021.105564 · Cited by 68
Local Melatonin Regulates Inflammation Resolution: A Common Factor in Neurodegenerative, Psychiatric and Systemic Inflammatory Disorders
Anderson, G., & Maes, M. H. J. (2014) · CNS & Neurological Disorders - Drug Targets · doi:10.2174/1871527313666140711091400 · Cited by 65
Rett Syndrome: Genes, Synapses, Circuits, and Therapeutics
Banerjee, A., Castro, J. E., & Sur, M. (2012) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2012.00034 · Cited by 66
Epileptogenic Q555X SYN1 mutant triggers imbalances in release dynamics and short-term plasticity
Lignani, G., Raimondi, A., Ferrea, E., Rocchi, A., Paonessa, F., Cesca, F., Orlando, M., Tkatch, T., Valtorta, F., Cossette, P., et al. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt071 · Cited by 63
Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders
Jacob, J. (2015) · Epilepsia · doi:10.1111/epi.13272 · Cited by 65
Language deficits in schizophrenia and autism as related oscillatory connectomopathies: An evolutionary account
Murphy, E., & Benítez‐Burraco, A. (2016) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2016.07.029 · Cited by 66
Concentrations of Cortical GABA and Glutamate in Young Adults With Autism Spectrum Disorder
Kolodny, T., Schallmo, M., Gerdts, J. A., Edden, R. A. E., Bernier, R., & Murray, S. O. (2020) · Autism Research · doi:10.1002/aur.2300 · Cited by 59
Twenty-four hour quantitative-EEG and in-vivo glutamate biosensor detects activity and circadian rhythm dependent biomarkers of pathogenesis in Mecp2 null mice
Johnston, M. V., Ammanuel, S. G., O’Driscoll, C. M., Wozniak, A. W., Naidu, S., & Kadam, S. D. (2014) · Frontiers in Systems Neuroscience · doi:10.3389/fnsys.2014.00118 · Cited by 66
Pharmacotherapy of autism spectrum disorders
Benvenuto, A., Battan, B., Porfirio, M. C., & Curatolo, P. (2012) · Brain and Development · doi:10.1016/j.braindev.2012.03.015 · Cited by 61
When Norepinephrine Becomes a Driver of Breathing Irregularities: How Intermittent Hypoxia Fundamentally Alters the Modulatory Response of the Respiratory Network
Zanella, S., Doi, A., Garcia, A. J., Elsen, F. P., Kirsch, S., Wei, A. D., & Ramirez, J. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.3644-12.2014 · Cited by 61
Loss of MeCP2 in cholinergic neurons causes part of RTT-like phenotypes via α7 receptor in hippocampus
Zhang, Y., Cao, S.-X., Sun, P., He, H.-Y., Yang, C.-H., Chen, X., Shen, C.-J., Wang, X., Chen, Z., Berg, D. K., et al. (2016) · Cell Research · doi:10.1038/cr.2016.48 · Cited by 62
Brain Organoids as Tools for Modeling Human Neurodevelopmental Disorders
Adams, J. W., Cugola, F. R., & Muotri, A. R. (2019) · Physiology · doi:10.1152/physiol.00005.2019 · Cited by 68
KDM5A mutations identified in autism spectrum disorder using forward genetics
Hayek, L. E., Tuncay, İ. O., Nijem, N., Russell, J. L., Ludwig, S. M., Kaur, K. J., Li, X., Anderton, P. D., Tang, M., Gerard, A., et al. (2020) · eLife · doi:10.7554/elife.56883 · Cited by 60
Self-citation
Antisense oligonucleotide therapy in a humanized mouse model of MECP2 duplication syndrome
Shao, Y., Sztainberg, Y., Wang, Q., Bajikar, S. S., Trostle, A. J., Wan, Y., Jafar‐Nejad, P., Rigo, F., Liu, Z., Tang, J., et al. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.aaz7785 · Cited by 61
Self-citation
Development of GABAergic inputs controls the contribution of maturing neurons to the adult hippocampal network
Li, Y., Aimone, J. B., Xu, X., Callaway, E. M., & Gage, F. H. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1120754109 · Cited by 62
Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese
Wong, E., So, H., Li, M., Wang, Q., Butler, A. W., Paul, B., Wu, H.-M., Hui, T. C. K., Choi, S.-C., So, M., et al. (2013) · Schizophrenia Bulletin · doi:10.1093/schbul/sbt104 · Cited by 61
Genetic and environmental modulation of neurodevelopmental disorders: Translational insights from labs to beds
Homberg, J. R., Kyzar, E. J., Scattoni, M. L., Norton, W., Pittman, J. T., Gaikwad, S., Nguyen, M., Poudel, M. K., Ullmann, J. F. P., Diamond, D. M., et al. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.04.015 · Cited by 67
Characterization of Rett Syndrome-like phenotypes in Mecp2-knockout rats
Wu, Y., Zhong, W., Cui, N., Johnson, C. M., Xing, H., Zhang, S., & Jiang, C. L. (2016) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-016-9156-7 · Cited by 61
MeCP2 Modulates Sex Differences in the Postsynaptic Development of the Valproate Animal Model of Autism
Kim, K. C., Choi, C. S., Kim, J.-W., Han, S.-H., Cheong, J. H., Ryu, J. H., & Shin, C. Y. (2016) · Molecular Neurobiology · doi:10.1007/s12035-014-8987-z · Cited by 60
Excitation/Inhibition Modulators in Autism Spectrum Disorder: Current Clinical Research
Canitano, R., & Palumbi, R. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.753274 · Cited by 60
Pharmacological treatment with mirtazapine rescues cortical atrophy and respiratory deficits in MeCP2 null mice
Bittolo, T., Raminelli, C. A., Deiana, C., Baj, G., Vaghi, V., Ferrazzo, S., Bernareggi, A., & Tongiorgi, E. (2016) · Scientific Reports · doi:10.1038/srep19796 · Cited by 59
MeCP2 Deficiency in Neuroglia: New Progress in the Pathogenesis of Rett Syndrome
Jin, X.-R., Chen, X.-S., & Xiao, L. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00316 · Cited by 59
Loss of MeCP2 in the rat models regression, impaired sociability and transcriptional deficits of Rett syndrome
Veeraragavan, S., Wan, Y.-W., Connolly, D. R., Hamilton, S. M., Ward, C. S., Soriano, S., Pitcher, M. R., McGraw, C. M., Huang, S. G., Green, J. R., et al. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw178 · Cited by 59
Self-citation
Cation-Chloride Cotransporters KCC2 and NKCC1 as Therapeutic Targets in Neurological and Neuropsychiatric Disorders
Lam, P., Newland, J., Faull, R. L. M., & Kwakowsky, A. (2023) · Molecules · doi:10.3390/molecules28031344 · Cited by 59
Analysis of the effects of rare variants on splicing identifies alterations in GABAA receptor genes in autism spectrum disorder individuals
Piton, A., Jouan, L., Rochefort, D. L., Dobrzeniecka, S., Lachapelle, K., Dion, P. A., Gauthier, J., & Rouleau, G. A. (2012) · European Journal of Human Genetics · doi:10.1038/ejhg.2012.243 · Cited by 65
Enriched expression of genes associated with autism spectrum disorders in human inhibitory neurons
Wang, P., Zhao, D., Lachman, H. M., & Zheng, D. (2018) · Translational Psychiatry · doi:10.1038/s41398-017-0058-6 · Cited by 61
Distinct Pathogenic Genes Causing Intellectual Disability and Autism Exhibit a Common Neuronal Network Hyperactivity Phenotype
Frega, M., Selten, M. M., Mossink, B., Keller, J. M., Linda, K., Moerschen, R., Qu, J., Koerner, P., Jansen, S. M. J., Bijvank, E., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2019.12.002 · Cited by 59
Treating F ragile X syndrome with the diuretic bumetanide: a case report
Lemonnier, É., Robin, G., Degrez, C., Tyzio, R., Grandgeorge, M., & Ben‐Ari, Y. (2013) · Acta Paediatrica · doi:10.1111/apa.12235 · Cited by 58
Loss of MeCP2 function is associated with distinct gene expression changes in the striatum
Zhao, Y.-T., Goffin, D., Johnson, B. S., & Zhou, Z. (2013) · Neurobiology of Disease · doi:10.1016/j.nbd.2013.08.001 · Cited by 59
Selective degeneration of septal and hippocampal GABAergic neurons in a mouse model of amyloidosis and tauopathy
Loreth, D., Ozmen, L., Revel, F. G., Knoflach, F., Wetzel, P., Frotscher, M., Metzger, F., & Kretz, O. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2012.03.011 · Cited by 58
Cognitive deficits in Rett syndrome: What we know and what we need to know to treat them
Berger-Sweeney, J. E. (2011) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2011.05.006 · Cited by 59
Assortment of GABAergic Plasticity in the Cortical Interneuron Melting Pot
Méndez, P., & Bacci, A. (2011) · Neural Plasticity · doi:10.1155/2011/976856 · Cited by 61
Immune-mediated animal models of Tourette syndrome
Hornig, M., & Lipkin, W. I. (2013) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2013.01.007 · Cited by 56
Magel2 knockout mice manifest altered social phenotypes and a deficit in preference for social novelty
Fountain, M. D., Tao, H., Chen, C. ‐., Yin, J., & Schaaf, C. P. (2017) · Genes Brain & Behavior · doi:10.1111/gbb.12378 · Cited by 57
Progress on the Roles of MEF2C in Neuropsychiatric Diseases
Zhang, Z., & Zhao, Y. (2022) · Molecular Brain · doi:10.1186/s13041-021-00892-6 · Cited by 56
Deficiency of GABAergic synaptic inhibition in the Kölliker–Fuse area underlies respiratory dysrhythmia in a mouse model of Rett syndrome
Abdala, A. P., Toward, M. A., Dutschmann, M., Bissonnette, J. M., & Paton, J. F. R. (2015) · The Journal of Physiology · doi:10.1113/jp270966 · Cited by 55
Mechanisms and therapeutic challenges in autism spectrum disorders
Castro, J. E., Mellios, N., & Sur, M. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835f19a7 · Cited by 53
NINDS epilepsy and autism spectrum disorders workshop report
Tuchman, R. F., Hirtz, D., & Mamounas, L. A. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a9f482 · Cited by 56
Cortical interneuron function in autism spectrum condition
Lunden, J. W., Durens, M., Phillips, A. W., & Nestor, M. W. (2018) · Pediatric Research · doi:10.1038/s41390-018-0214-6 · Cited by 56
Oligodendrocyte dysfunction due to Chd8 mutation gives rise to behavioral deficits in mice
Kawamura, A., Katayama, Y., Nishiyama, M., Shoji, H., Tokuoka, K., Ueta, Y., Miyata, M., Isa, T., Miyakawa, T., Hayashi‐Takagi, A., et al. (2020) · Human Molecular Genetics · doi:10.1093/hmg/ddaa036 · Cited by 58
Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels
Chever, O., Zerimech, S., Scalmani, P., Lemaire, L., Pizzamiglio, L., Loucif, A., Ayrault, M., Крупа, М. М., Desroches, M., Duprat, F., et al. (2021) · Journal of Clinical Investigation · doi:10.1172/jci142203 · Cited by 55
“Brain MR spectroscopy in autism spectrum disorder—the GABA excitatory/inhibitory imbalance theory revisited”
Brix, M. K., Ersland, L., Hugdahl, K., Grüner, R., Posserud, M.-B. R., Hammar, Å., Craven, A. R., Noeske, R., Evans, C. J., Walker, H. B., et al. (2015) · Frontiers in Human Neuroscience · doi:10.3389/fnhum.2015.00365 · Cited by 56
Differential Balance of Prefrontal Synaptic Activity in Successful versus Unsuccessful Cognitive Aging
Bories, C., Husson, Z., Guitton, M. J., & Koninck, Y. D. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.3258-12.2013 · Cited by 53
Cellular and synaptic phenotypes lead to disrupted information processing in Fmr1-KO mouse layer 4 barrel cortex
Domanski, A. P. F., Booker, S. A., Wyllie, D. J. A., Isaac, J. T. R., & Kind, P. C. (2019) · Nature Communications · doi:10.1038/s41467-019-12736-y · Cited by 59
Environmental regulation of the chloride transporter KCC2: switching inflammation off to switch the GABA on?
Pozzi, D., Rasile, M., Corradini, I., & Matteoli, M. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-01027-6 · Cited by 57
SUMO ylation of Me CP 2 is essential for transcriptional repression and hippocampal synapse development
Cheng, J., Huang, M., Zhu, Y. J., Xin, Y., Zhao, Y., Huang, J. J., Yu, J., Zhou, W., & Qiu, Z. (2013) · Journal of Neurochemistry · doi:10.1111/jnc.12523 · Cited by 54
The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions
Ramirez, J., Karlen‐Amarante, M., Wang, J.-D. J., Bush, N. E., Carroll, M. S., Weese‐Mayer, D. E., & Huff, A. D. (2020) · Physiology · doi:10.1152/physiol.00008.2020 · Cited by 53
Interneuron development and dysfunction
Yang, J., Yang, X. W., & Tang, K. (2021) · FEBS Journal · doi:10.1111/febs.15872 · Cited by 54
Isoprostanes and 4-Hydroxy-2-nonenal: Markers or Mediators of Disease? Focus on Rett Syndrome as a Model of Autism Spectrum Disorder
Signorini, C., Felice, C. D., Durand, T., Oger, C., Galano, J., Leoncini, S., Pecorelli, A., Valacchi, G., Ciccoli, L., & Hayek, J. (2013) · Oxidative Medicine and Cellular Longevity · doi:10.1155/2013/343824 · Cited by 54
PX-RICS-deficient mice mimic autism spectrum disorder in Jacobsen syndrome through impaired GABAA receptor trafficking
Nakamura, T., Arima‐Yoshida, F., Sakaue, F., Nasu‐Nishimura, Y., Takeda, Y., Matsuura, K., Akshoomoff, N. A., Mattson, S. N., Grossfeld, P., Manabe, T., et al. (2016) · Nature Communications · doi:10.1038/ncomms10861 · Cited by 58
Shank2 Deletion in Parvalbumin Neurons Leads to Moderate Hyperactivity, Enhanced Self-Grooming and Suppressed Seizure Susceptibility in Mice
Lee, S., Lee, E., Kim, R., Kim, J., Lee, S., Park, H., Yang, E., Kim, H., & Kim, E. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00209 · Cited by 54
Transient Cognitive Impairment in Epilepsy
Landi, S., Petrucco, L., Sicca, F., & Ratto, G. M. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00458 · Cited by 57
Cerebral organoids as tools to identify the developmental roots of autism
Chan, W. K., Griffiths, R., Price, D. J., & Mason, J. O. (2020) · Molecular Autism · doi:10.1186/s13229-020-00360-3 · Cited by 58
Cell-Specific Regulation of N-Methyl-D-Aspartate Receptor Maturation by Mecp2 in Cortical Circuits
Mierau, S. B., Patrizi, A., Hensch, T. K., & Fagiolini, M. (2016) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.05.018 · Cited by 50
Pathways to Drug Development for Autism Spectrum Disorders
Hampson, D. R., Gholizadeh, S., & Pacey, L. K. K. (2011) · Clinical Pharmacology & Therapeutics · doi:10.1038/clpt.2011.245 · Cited by 56
Investigating the Role of GABA in Neural Development and Disease Using Mice Lacking GAD67 or VGAT Genes
Bolneo, E., Chau, P. Y. S., Noakes, P. G., & Bellingham, M. C. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms23147965 · Cited by 58
Chromatin context and ncRNA highlight targets of MeCP2 in brain
Maxwell, S., Pelka, G. J., Tam, P., & El‐Osta, A. (2013) · RNA Biology · doi:10.4161/rna.26921 · Cited by 56
Reversing autism by targeting downstream mTOR signaling
Wang, H., & Doering, L. C. (2013) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2013.00028 · Cited by 55
An NMDA Receptor-Dependent Mechanism Underlies Inhibitory Synapse Development
Gu, X., Zhou, L., & Lü, W. (2016) · Cell Reports · doi:10.1016/j.celrep.2015.12.061 · Cited by 53
Postnatal Loss of Mef2c Results in Dissociation of Effects on Synapse Number and Learning and Memory
Adachi, M., Lin, P.-Y., Pranav, H., & Monteggia, L. M. (2015) · Biological Psychiatry · doi:10.1016/j.biopsych.2015.09.018 · Cited by 55
Loss of MeCP2 disrupts cell autonomous and autocrine BDNF signaling in mouse glutamatergic neurons
Sampathkumar, C., Wu, Y.-J., Vadhvani, M., Trimbuch, T., Eickholt, B. J., & Rosenmund, C. (2016) · eLife · doi:10.7554/elife.19374 · Cited by 53
Self-citation
Histamine H3R receptor activation in the dorsal striatum triggers stereotypies in a mouse model of tic disorders
Rapanelli, M., Frick, L. R., Pogorelov, V. M., Ohtsu, H., Bito, H., & Pittenger, C. (2017) · Translational Psychiatry · doi:10.1038/tp.2016.290 · Cited by 53
Epilepsy as a Network Disorder (1): What can we learn from other network disorders such as autistic spectrum disorder and mood disorders?
Kanner, A. M., Scharfman, H. E., Jetté, N., Anagnostou, E. A., Bernard, C., Camfield, C., CAMFIELD, P. R., Legg, K. T., Dinstein, I., Giacobbe, P., et al. (2017) · Epilepsy & Behavior · doi:10.1016/j.yebeh.2017.09.014 · Cited by 57
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome
Landucci, E., Brindisi, M., Bianciardi, L., Catania, L. M., Daga, S., Croci, S., Frullanti, E., Fallerini, C., Butini, S., Brogi, S., et al. (2018) · Experimental Cell Research · doi:10.1016/j.yexcr.2018.05.001 · Cited by 57
Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic
Kadam, S. D., Sullivan, B. J., Goyal, A., Blue, M. E., & Smith‐Hicks, C. L. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20205098 · Cited by 56
Dlx5 and Dlx6 expression in GABAergic neurons controls behavior, metabolism, healthy aging and lifespan
de Lombares, C., Heude, E., Alfama, G., Fontaine, A., Hassouna, R., Vernochet, C., de Chaumont, F., Olivo-Marin, C., Ey, E., Parnaudeau, S., et al. (2019) · Aging · doi:10.18632/aging.102141 · Cited by 52
The Age of Brain Organoids: Tailoring Cell Identity and Functionality for Normal Brain Development and Disease Modeling
Porciúncula, L. O., Goto‐Silva, L., Ledur, P. F., & Rehen, S. K. (2021) · Frontiers in Neuroscience · doi:10.3389/fnins.2021.674563 · Cited by 54
A brain-to-spinal sensorimotor loop for repetitive self-grooming
Xie, Z., Li, D., Cheng, X., Pei, Q., Gu, H., Tao, T., Huang, M., Shang, C., Geng, D., Zhao, M., et al. (2021) · Neuron · doi:10.1016/j.neuron.2021.11.028 · Cited by 62
Reduced seizure threshold and altered network oscillatory properties in a mouse model of Rett syndrome
McLeod, F., Ganley, R. P., Williams, L., Selfridge, J., Bird, A. P., & Cobb, S. (2012) · Neuroscience · doi:10.1016/j.neuroscience.2012.11.058 · Cited by 52
Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders
Fisher, N. M., Seto, M., Lindsley, C. W., & Niswender, C. M. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00387 · Cited by 52
The Expanding Therapeutic Potential of Neuronal KCC2
Tang, B. L. (2020) · Cells · doi:10.3390/cells9010240 · Cited by 52
FoxG1 regulates the formation of cortical GABAergic circuit during an early postnatal critical period resulting in autism spectrum disorder-like phenotypes
Miyoshi, G., Ueta, Y., Natsubori, A., Hiraga, K., Osaki, H., Yagasaki, Y., Kishi, Y., Yanagawa, Y., Fishell, G., Machold, R. P., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-23987-z · Cited by 56
Sensitive period for rescuing parvalbumin interneurons connectivity and social behavior deficits caused by TSC1 loss
Amegandjin, C. A., Choudhury, M., Jadhav, V., Carriço, J. N., Quintal, A., Berryer, M. H., Snapyan, M., Chattopadhyaya, B., Saghatelyan, A., & Cristo, G. D. (2021) · Nature Communications · doi:10.1038/s41467-021-23939-7 · Cited by 53
Cul3 Regulates Cytoskeleton Protein Homeostasis and Cell Migration During a Critical Window of Brain Development
Morandell, J., Schwarz, L. A., Basilico, B., Tasciyan, S., Dimchev, G. A., Nicolas, A., Sommer, C., Kreuzinger, C., Dotter, C. P., Knaus, L. S., et al. (2020) · Nature Communications · doi:10.1038/s41467-021-23123-x · Cited by 46
Pathophysiological power of improper tonic GABAA conductances in mature and immature models
Egawa, K., & Fukuda, A. (2013) · Frontiers in Neural Circuits · doi:10.3389/fncir.2013.00170 · Cited by 56
GABAergic synaptic inputs of locus coeruleus neurons in wild-type and Mecp2-null mice
Jin, X. K., Cui, N., Zhong, W., Jin, X., & Jiang, C. L. (2013) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00399.2012 · Cited by 51
Compromising the phosphodependent regulation of the GABA A R β3 subunit reproduces the core phenotypes of autism spectrum disorders
Vien, T. N., Modgil, A., Abramian, A. M., Jurd, R., Walker, J., Brandon, N. J., Terunuma, M., Rudolph, U., Maguire, J. L., Davies, P. A., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1514657112 · Cited by 52
Degraded neural and behavioral processing of speech sounds in a rat model of Rett syndrome
Engineer, C. T., Rahebi, K. C., Borland, M. S., Buell, E. P., Centanni, T. M., Fink, M. K., Im, K. W., Wilson, L. G., & Kilgard, M. P. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.08.019 · Cited by 49
The autism-associated protein CHD8 is required for cerebellar development and motor function
Kawamura, A., Katayama, Y., Kakegawa, W., Ino, D., Nishiyama, M., Yuzaki, M., & Nakayama, K. I. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.108932 · Cited by 53
Mutant Mouse Models of Autism Spectrum Disorders
Provenzano, G., Zunino, G., Genovesi, S., Sgadó, P., & Bozzi, Y. (2012) · Disease Markers · doi:10.1155/2012/916082 · Cited by 53
Intergenerational Metabolic Syndrome and Neuronal Network Hyperexcitability in Autism
Rivell, A., & Mattson, M. P. (2019) · Trends in Neurosciences · doi:10.1016/j.tins.2019.08.006 · Cited by 50
Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine
Lemaire, L., Desroches, M., Крупа, М. М., Pizzamiglio, L., Scalmani, P., & Mantegazza, M. (2021) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1009239 · Cited by 48
Importance of the matriline for genomic imprinting, brain development and behaviour
Keverne, E. B. (2012) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.2011.0327 · Cited by 51
Neurobiologically-based treatments in Rett syndrome: opportunities and challenges
Kaufmann, W. E., Stallworth, J. L., Everman, D. B., & Skinner, S. A. (2016) · Expert Opinion on Orphan Drugs · doi:10.1080/21678707.2016.1229181 · Cited by 51
Systematic reconstruction of autism biology from massive genetic mutation profiles
Luo, W., Zhang, C., Jiang, Y., & Brouwer, C. (2018) · Science Advances · doi:10.1126/sciadv.1701799 · Cited by 49
Clustered gamma-protocadherins regulate cortical interneuron programmed cell death
Mancia, W., Spatazza, J., Rakela, B., Chatterjee, A., Pande, V., Maniatis, T., Hasenstaub, A. R., Stryker, M. P., & Álvarez-Buylla, A. (2020) · eLife · doi:10.7554/elife.55374 · Cited by 52
Cognitive impairment in psychiatric diseases: Biomarkers of diagnosis, treatment, and prevention
Wang, Y., Meng, W., Liu, Z., An, Q., & Hu, X. (2022) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2022.1046692 · Cited by 51
Epigenetic Mechanisms in Autism Spectrum Disorder
Zhubi, A., Cook, E. H., Guidotti, A., & Grayson, D. R. (2014) · International review of neurobiology · doi:10.1016/b978-0-12-801311-3.00006-8 · Cited by 56
MeCP2 Phosphorylation Limits Psychostimulant-Induced Behavioral and Neuronal Plasticity
Deng, J. V., Wan, Y., Wang, X., Cohen, S., Wetsel, W. C., Greenberg, M. E., Kenny, P. J., Calakos, N., & West, A. E. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.2821-13.2014 · Cited by 50
Developmental mechanisms for the generation of telencephalic interneurons
Corbin, J. G., & Butt, S. J. B. (2011) · Developmental Neurobiology · doi:10.1002/dneu.20890 · Cited by 58
MeCP2: multifaceted roles in gene regulation and neural development
Cheng, T., & Qiu, Z. (2014) · Neuroscience Bulletin · doi:10.1007/s12264-014-1452-6 · Cited by 55

Authors: Chao, H.-T., Chen, H., Samaco, R. C., Xue, M., Chahrour, M., Yoo, J., Neul, J. L., Gong, S., Lu, H.-C., Heintz, N., Ekker, M., Rubenstein, J. L. R., Noebels, J. L., Rosenmund, C., & Zoghbi, H. Y.
Affiliations: Baylor College of Medicine (US)
Howard Hughes Medical Institute (US)
University of Ottawa (CA)
University of California, San Francisco (US)
Corresponding author: Rosenmund, Christian
Zoghbi, Huda Y.
ORCID: Chao, Hsiao-Tuan
Chen, Hongmei
Samaco, Rodney C.
Xue, Mingshan
Chahrour, Maria
Neul, Jeffrey L.
Gong, Shiaoching
Lu, Hui-Chen
Heintz, Nathaniel
Ekker, Marc
Rubenstein, John L. R.
Noebels, Jeffrey L.
Rosenmund, Christian
Zoghbi, Huda Y.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2010-11
Volume: 468
Issue: 7321
Pages: 263-269
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/nature09582
PMC: PMC3057962
OpenAlex: W2129032286
Cited by: 1,168
References: 51
Citations by year: 2026: 40 · 2025: 43 · 2024: 51 · 2023: 49 · 2022: 68 · 2021: 101 · 2020: 85 · 2019: 80 · 2018: 68 · 2017: 78 · 2016: 89 · 2015: 81 · 2014: 89 · 2013: 84 · 2012: 97
FWCI: 43.27
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
RePEc: Research Papers in Economics (submittedVersion)
eScholarship (California Digital Library) (submittedVersion)
Funders: Howard Hughes Medical Institute
U.S. Public Health Service (29709)
National Institute of Mental Health (F31MH078678)
National Institute of Neurological Disorders and Stroke (K08NS052240, R01NS048884, T32NS043124, R01NS057819)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 024064, R01HD062553, P30HD024064, HD053862)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords: Rett syndrome, MeCP2, GABAergic neurons, GABA signalling, repetitive behavior, inhibitory neurotransmission, glutamic acid decarboxylase, presynaptic inhibition, neuropsychiatric disorders, cell type-specific gene deletion, mouse model
MeSH terms: Animals, Autistic Disorder, Brain, Compulsive Behavior, Disease Models, Animal, Electroencephalography, gamma-Aminobutyric Acid, Genotype, Glutamate Decarboxylase, Hippocampus, Male, Mice, Transgenic, Neural Inhibition, Synaptic Transmission, Neuronal Plasticity, Neurons, Phenotype, Psychomotor Disorders, Respiration, Reflex, Startle, Signal Transduction, Rett Syndrome, Survival Rate, Self-Injurious Behavior, Presynaptic Terminals, Long-Term Potentiation, Homeodomain Proteins, Stereotypic Movement Disorder, Vesicular Inhibitory Amino Acid Transport Proteins, Mice, Methyl-CpG-Binding Protein 2, Inhibitory Postsynaptic Potentials

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

Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

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