Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition

Davenport, Elizabeth C.; Szulc, Blanka R.; Drew, James; Taylor, James; Morgan, Toby; Higgs, Nathalie F.; López-Doménech, Guillermo; Kittler, Josef T.

doi:10.1016/j.celrep.2019.01.092

Cited by 125Neuroscience and Neuropharmacology ResearchGenetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition

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Davenport, Elizabeth C., Szulc, Blanka R., Drew, James, Taylor, James, Morgan, Toby, Higgs, Nathalie F., López-Doménech, Guillermo, Kittler, Josef T.·2019·Cell Reports

DOI 10.1016/j.celrep.2019.01.092PMC PMC6381785

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Abstract

Altered excitatory/inhibitory balance is implicated in neuropsychiatric disorders but the genetic aetiology of this is still poorly understood. Copy number variations in CYFIP1 are associated with autism, schizophrenia and intellectual disability but the role of CYFIP1 in regulating synaptic inhibition or excitatory/inhibitory balance remains unclear. We show, CYFIP1, and its paralogue CYFIP2, are enriched at inhibitory postsynaptic sites. While upregulation of CYFIP1 or CYFIP2 increased excitatory synapse number and the frequency of miniature excitatory postsynaptic currents (mEPSCs), it had the opposite effect at inhibitory synapses, decreasing their size and the amplitude of miniature inhibitory postsynaptic currents (mIPSCs). Contrary to CYFIP1 upregulation, its loss in vivo, upon conditional knockout in neocortical principal cells, increased expression of postsynaptic GABA A receptor β2/3-subunits and neuroligin 3 and enhanced synaptic inhibition. Thus, CYFIP1 dosage can bi-directionally impact inhibitory synaptic structure and function, potentially leading to altered excitatory/inhibitory balance and circuit dysfunction in CYFIP1-associated neurodevelopmental disorders.

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CYFIP1 haploinsufficiency is likely to be a significant contributor to the 15q11.2(BP1-BP2)del psychiatric phenotype.
“CYFIP1 haploinsufficiency is likely to be a significant contributor to the 15q11.2(BP1–BP2)del psychiatric phenotype due to its known involvement in several key brain plasticity-related functions such as dendritic spine morphology and branching [7, 8], and the interaction between CYFIP1 and fragile X mental retardation 1 (FMR1) [9].”
From Linking haploinsufficiency of the autism- and schizophrenia-associated gene Cyfip1 with striatal-limbic-cortical network dysfunction and cognitive inflexibility (2024) · cites this paper as [8]
The Introduction and Discussion (page unavailable) link altered CYFIP1 dosage to synaptic changes and suggest that CYFIP1 deletion could contribute to cognitive changes in people with 15q11.2 microdeletions. The paper does not establish that CYFIP1 haploinsufficiency is likely to be a significant contributor to the deletion’s psychiatric phenotype; its conclusion is more tentative. (LLM, conf=0.84)
Experimental — accuracy not yet measured
The overexpression of CYFIP1 in cultured hippocampal neurons increases the mEPSC frequency and decreases the mIPSC amplitude.
“The overexpression of CYFIP1 in cultured hippocampal neurons increases the mEPSC frequency and decreases the mIPSC amplitude.”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [67]
Excitatory neuron-specific CYFIP1 deletion in mice increases the levels of neuroligin 3 and GABAA receptor β2/3 subunits and increases inhibitory postsynaptic clustering and mIPSC.
“In contrast, excitatory neuron-specific CYFIP1 deletion in mice increases the levels of the neuroligin 3 and GABAA receptor β2/3 subunits and increases inhibitory postsynaptic clustering and mIPSC67.”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [67]
CYFIP1-overexpressing neurons and transgenic mice overexpressing CYFIP1 display immature dendritic spines.
“CYFIP1-overexpressing neurons and transgenic mice overexpressing CYFIP1 display immature dendritic spines67,68.”
From The WAVE complex in developmental and adulthood brain disorders (2025) · cites this paper as [67]

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Miro1‐dependent mitochondrial positioning drives the rescaling of presynaptic Ca2+ signals during homeostatic plasticity
Vaccaro, V., Devine, M. J., Higgs, N., & Kittler, J. T. (2016) · EMBO Reports · doi:10.15252/embr.201642710 · Cited by 131 · see citing works
Self-citation
15q11.2 microdeletion (BP1–BP2) and developmental delay, behaviour issues, epilepsy and congenital heart disease: A series of 52 patients
Vanlerberghe, C., Petit, F., Malan, V., Vincent‐Delorme, C., Bouquillon, S., Boute, O., Holder‐Espinasse, M., Delobel, B., Duban‐Bedu, B., Vallée, L., et al. (2015) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2015.01.002 · Cited by 123 · see citing works
Increased CYFIP1 dosage alters cellular and dendritic morphology and dysregulates mTor
Oguro-Ando, A., Rosensweig, C., Herman, E., Nishimura, Y., Werling, D., Bill, B. R., Berg, J. M., Gao, F., Coppola, G., Abrahams, B. S., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.124 · Cited by 117 · see citing works
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
Toma, C., Torrico, B., Hervás, A., Valdés-Mas, R., Tristán-Noguero, A., Padillo, V, Maristany, M., Salgado, M., Arenas, C., Puente, X. S., et al. (2014) · Molecular Psychiatry · doi:10.1038/mp.2013.106 · Cited by 114 · see citing works
A co-segregating microduplication of chromosome 15q11.2 pinpoints two risk genes for autism spectrum disorder.
van der Zwaag, B., Staal, W. G., Hochstenbach, R., Poot, M., Spierenburg, H. A., de Jonge, M. V., Verbeek, N. E., van 't Slot, R., van Es, M. A., Staal, F. J., et al. (2010) · American Journal of Medical Genetics Part B: Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31055 · Cited by 108 · see citing works
Unique versus Redundant Functions of Neuroligin Genes in Shaping Excitatory and Inhibitory Synapse Properties
Chanda, S., Hale, W. D., Zhang, B., Wernig, M., & Südhof, T. C. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.0125-17.2017 · Cited by 106 · see citing works
DISC1-dependent Regulation of Mitochondrial Dynamics Controls the Morphogenesis of Complex Neuronal Dendrites
Norkett, R., Modi, S., Birsa, N., Atkin, T. A., Ivankovic, D., Pathania, M., Trossbach, S. V., Korth, C., Hirst, W. D., & Kittler, J. T. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.699447 · Cited by 102 · see citing works
Self-citation
Protein complexes containing CYFIP/Sra/PIR121 coordinate Arf1 and Rac1 signalling during clathrin–AP-1-coated carrier biogenesis at the TGN
Anitei, M., Stange, C., Parshina, I., Baust, T., Schenck, A., Raposo, G., Kirchhausen, T., & Hoflack, B. (2010) · Nature Cell Biology · doi:10.1038/ncb2034 · Cited by 102 · see citing works
Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice
Bozdagi, O., Sakurai, T., Dorr, N., Pilorge, M., Takahashi, N., & Buxbaum, J. D. (2012) · PLoS ONE · doi:10.1371/journal.pone.0042422 · Cited by 97 · see citing works
The adhesion protein IgSF9b is coupled to neuroligin 2 via S-SCAM to promote inhibitory synapse development
Woo, J., Kwon, S., Nam, J., Choi, S., Takahashi, H., Krueger‐Burg, D., Park, J., Lee, Y., Bae, J. Y., Lee, D., et al. (2013) · The Journal of Cell Biology · doi:10.1083/jcb.201209132 · Cited by 95 · see citing works
The Small GTPase Arf1 Modulates Arp2/3-Mediated Actin Polymerization via PICK1 to Regulate Synaptic Plasticity
Rocca, D. L., Amici, M., Antoniou, A., Blanco Suarez, E., Halemani, N., Murk, K., McGarvey, J., Jaafari, N., Mellor, J. R., Collingridge, G. L., et al. (2013) · Neuron · doi:10.1016/j.neuron.2013.05.003 · Cited by 90 · see citing works
The role of drebrin in neurons
Shirao, T., Hanamura, K., Koganezawa, N., Ishizuka, Y., Yamazaki, H., & Sekino, Y. (2017) · Journal of Neurochemistry · doi:10.1111/jnc.13988 · Cited by 82 · see citing works
Developmental maturation of synaptic and extrasynaptic GABAAreceptors in mouse thalamic ventrobasal neurones
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An Essential Role for the Tetraspanin LHFPL4 in the Cell-Type-Specific Targeting and Clustering of Synaptic GABAA Receptors
Davenport, E. C., Pendolino, V., Kontou, G., McGee, T. P., Sheehan, D. F., López‐Doménech, G., Farrant, M., & Kittler, J. T. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.09.025 · Cited by 81 · see citing works
Self-citation
De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy
Nakashima, M., Kato, M., Aoto, K., Shiina, M., Belal, H., Mukaida, S., Kumada, S., Sato, A., Zerem, A., Lerman‐Sagie, T., et al. (2018) · Annals of Neurology · doi:10.1002/ana.25208 · Cited by 80 · see citing works
Somatostatin and parvalbumin inhibitory synapses onto hippocampal pyramidal neurons are regulated by distinct mechanisms
Horn, M. E., & Nicoll, R. A. (2018) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1719523115 · Cited by 74 · see citing works
Fragile X-like behaviors and abnormal cortical dendritic spines in cytoplasmic FMR1-interacting protein 2-mutant mice
Han, K., Chen, H., Gennarino, V. A., Richman, R., Lu, H.-C., & Zoghbi, H. Y. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu595 · Cited by 72 · see citing works
Cytoplasmic FMR1-Interacting Protein 2 Is a Major Genetic Factor Underlying Binge Eating
Kirkpatrick, S. L., Goldberg, L. R., Yazdani, N., Babbs, R. K., Wu, J., Reed, E. R., Jenkins, D. F., Bolgioni, A. F., Landaverde, K. I., Luttik, K. P., et al. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.10.021 · Cited by 71 · see citing works
Alzheimer-related decrease in CYFIP2 links amyloid production to tau hyperphosphorylation and memory loss
Tiwari, S. S., Mizuno, K., Ghosh, A., Aziz, W., Troakes, C., Daoud, J., Golash, V., Noble, W., Hortobágyi, T., & Giese, K. P. (2016) · Brain · doi:10.1093/brain/aww205 · Cited by 65 · see citing works
GIT1 and βPIX Are Essential for GABAA Receptor Synaptic Stability and Inhibitory Neurotransmission
Smith, K. R., Davenport, E. C., Wei, J., Li, X., Pathania, M., Vaccaro, V., Yan, Z., & Kittler, J. T. (2014) · Cell Reports · doi:10.1016/j.celrep.2014.08.061 · Cited by 65 · see citing works
Self-citation
Cyfip1 Regulates Presynaptic Activity during Development
Hsiao, K., Harony-Nicolas, H., Buxbaum, J. D., Bozdagi-Gunal, O., & Benson, D. L. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.0511-15.2016 · Cited by 64 · see citing works
New insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes
Abekhoukh, S., Sahin, H. B., Grossi, M., Zongaro, S., Maurin, T., Madrigal, I., Kazue-Sugioka, D., Raas-Rothschild, A., Doulazmi, M., Carrera, P., et al. (2017) · Disease Models & Mechanisms · doi:10.1242/dmm.025809 · Cited by 59 · cited 1× · see citing works
“, 2014) and the development and plasticity of dendritic spines (Abekhoukh et al., 2017; Pathania et al., 2014; De Rubeis et al., 2013), the role of CYFIP1 at inhibitory synapses and in regulating the E/I balance remains undetermined.”
Background
Autism-associated mutation inhibits protein kinase C-mediated neuroligin-4X enhancement of excitatory synapses
Bemben, M. A., Nguyen, Q.-A., Wang, T., Li, Y., Nicoll, R. A., & Roche, K. W. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1500501112 · Cited by 56 · see citing works
Recurrent 15q11.2 BP1‐BP2 microdeletions and microduplications in the etiology of neurodevelopmental disorders
Picinelli, C., Lintas, C., Piras, I. S., Gabriele, S., Sacco, R., Brogna, C., & Persico, A. M. (2016) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32480 · Cited by 51 · see citing works
Developmental plasticity shapes synaptic phenotypes of autism-associated neuroligin-3 mutations in the calyx of Held
Zhang, B., Seigneur, E. M., Wei, P., Gökçe, Ö., Morgan, J., & Südhof, T. C. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.157 · Cited by 49 · see citing works
Common Regulatory Variants ofCYFIP1Contribute to Susceptibility for Autism Spectrum Disorder (ASD) and Classical Autism
Wang, J., Tao, Y., Song, F., Sun, Y., Ott, J., & Saffen, D. (2015) · Annals of Human Genetics · doi:10.1111/ahg.12121 · Cited by 45 · see citing works
Cellular Functions of the Autism Risk Factor PTCHD1 in Mice
Tora, D., Gomez, A. M., Michaud, J.-F., Yam, P. T., Charron, F., & Scheiffele, P. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.1393-17.2017 · Cited by 36 · see citing works
Reduced CYFIP1 in Human Neural Progenitors Results in Dysregulation of Schizophrenia and Epilepsy Gene Networks
Nebel, R. A., Zhao, D., Pedrosa, E., Kirschen, J., Lachman, H. M., Zheng, D., & Abrahams, B. S. (2016) · PLoS ONE · doi:10.1371/journal.pone.0148039 · Cited by 33 · see citing works
Cadherin-10 Maintains Excitatory/Inhibitory Ratio through Interactions with Synaptic Proteins
Smith, K. R., Jones, K. A., Kopeikina, K. J., Burette, A. C., Copits, B. A., Yoon, S., Forrest, M. P., Fawcett‐Patel, J. M., Hanley, J. G., Weinberg, R. J., et al. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.1153-17.2017 · Cited by 29 · see citing works
Retrolinkin recruits the WAVE1 protein complex to facilitate BDNF-induced TrkB endocytosis and dendrite outgrowth
Xu, C., Fu, X., Zhu, S., & Liu, J.-J. (2016) · Molecular Biology of the Cell · doi:10.1091/mbc.e16-05-0326 · Cited by 27 · see citing works
In vivo clonal overexpression of neuroligin 3 and neuroligin 2 in neurons of the rat cerebral cortex: Differential effects on GABAergic synapses and neuronal migration
Fekete, C. D., Chiou, T., Miralles, C. P., Harris, R., Fiondella, C. G., LoTurco, J. J., & Blas, A. L. D. (2015) · The Journal of Comparative Neurology · doi:10.1002/cne.23740 · Cited by 21 · see citing works
The Small GTPase Rac1 Contributes to Extinction of Aversive Memories of Drug Withdrawal by Facilitating GABAA Receptor Endocytosis in the vmPFC
Wang, W., Ju, Y., Zhou, Q., Tang, J.-X., Li, M., Zhang, L., Kang, S., Chen, Z.-G., Wang, Y., Ji, H., et al. (2017) · Journal of Neuroscience · doi:10.1523/jneurosci.3859-16.2017 · Cited by 20 · see citing works
Up-regulated cytoplasmic FMRP-interacting protein 1 in intractable temporal lobe epilepsy patients and a rat model
Huang, Y. (2015) · International Journal of Neuroscience · doi:10.3109/00207454.2015.1038711 · Cited by 13 · see citing works
C57BL/6N Mutation in Cytoplasmic FMRP interacting protein 2 Regulates Cocaine Response
Yoo, S.-H., Kourrich, S., Kumar, V., Huang, H. C., Churchill, G., Kim, K., Joseph, C., Bonci, A., Takahashi, J. S., Vitaterna, M. H., et al. (2020) · Carolina Digital Repository (University of North Carolina at Chapel Hill) · doi:10.17615/rdkb-n146 · Cited by 10 · see citing works

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Neurodevelopmental Disorders: From Genetics to Functional Pathways
Parenti, I., Rabaneda, L. G., Schoen, H., & Novarino, G. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.05.004 · Cited by 628 · see citing works
The synaptic hypothesis of schizophrenia version III: a master mechanism
Howes, O. D., & Onwordi, E. C. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02043-w · Cited by 236 · see citing works
Transcriptomic profiling of microglia and astrocytes throughout aging
Pan, J., Ma, N., Yu, B., Zhang, W., & Wan, J. (2020) · Journal of Neuroinflammation · doi:10.1186/s12974-020-01774-9 · Cited by 188 · see citing works
Miro clusters regulate ER-mitochondria contact sites and link cristae organization to the mitochondrial transport machinery
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Self-citation
A Selective Review of the Excitatory-Inhibitory Imbalance in Schizophrenia: Underlying Biology, Genetics, Microcircuits, and Symptoms
Liu, Y., Ouyang, P., Zheng, Y., Mi, L., Zhao, J., Ning, Y., & Guo, W. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.664535 · Cited by 129 · see citing works
Aralar Sequesters GABA into Hyperactive Mitochondria, Causing Social Behavior Deficits
Kanellopoulos, A. K., Mariano, V., Spinazzi, M., Woo, Y. J., Mclean, C., Pech, U., Li, K. W., Armstrong, J. D., Giangrande, A., Callaerts, P., et al. (2020) · Cell · doi:10.1016/j.cell.2020.02.044 · Cited by 114 · see citing works
Autism spectrum disorder: pathogenesis, biomarker, and intervention therapy
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The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour
Domínguez-Iturza, N., Lo, A. C., Shah, D., Armendáriz, M., Vannelli, A., Mercaldo, V., Trusel, M., Li, K. W., Gastaldo, D., Santos, A. R., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11203-y · Cited by 96 · see citing works
Presynaptic dysfunction in neurodevelopmental disorders: Insights from the synaptic vesicle life cycle
Bonnycastle, K., Davenport, E. C., & Cousin, M. A. (2020) · Journal of Neurochemistry · doi:10.1111/jnc.15035 · Cited by 74 · see citing works
Self-citation
Alzheimer’s disease-related dysregulation of mRNA translation causes key pathological features with ageing
Ghosh, A., Mizuno, K., Tiwari, S. S., Proitsi, P., Gomez Perez-Nievas, B., Glennon, E., Martinez-Nunez, R. T., & Giese, K. P. (2020) · Translational Psychiatry · doi:10.1038/s41398-020-00882-7 · Cited by 78 · see citing works
Rho GTPase Regulators and Effectors in Autism Spectrum Disorders: Animal Models and Insights for Therapeutics
Guo, D., Yang, X., & Shi, L. (2020) · Cells · doi:10.3390/cells9040835 · Cited by 73 · see citing works
New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Begemann, A., Sticht, H., Begtrup, A., Vitobello, A., Faivre, L., Banka, S., Alhaddad, B., Asadollahi, R., Becker, J., Bierhals, T., et al. (2021) · Genetics in Medicine · doi:10.1038/s41436-020-01011-x · Cited by 61 · see citing works
Dysregulation of protein synthesis and dendritic spine morphogenesis in ASD: studies in human pluripotent stem cells
Lo, L. H.-Y., & Lai, K. (2020) · Molecular Autism · doi:10.1186/s13229-020-00349-y · Cited by 45 · see citing works
Modelling Learning and Memory in Drosophila to Understand Intellectual Disabilities
Mariano, V., Achsel, T., Bagni, C., & Kanellopoulos, A. K. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.07.034 · Cited by 46 · see citing works
Hypothalamic neuropeptides and neurocircuitries in Prader Willi syndrome
Corrêa‐da‐Silva, F., Fliers, E., Swaab, D. F., & Yi, C. (2021) · Journal of Neuroendocrinology · doi:10.1111/jne.12994 · Cited by 39 · see citing works
Neuronal Cytoskeleton in Intellectual Disability: From Systems Biology and Modeling to Therapeutic Opportunities
Liaci, C., Camera, M., Caslini, G., Rando, S., Contino, S., Romano, V., & Merlo, G. R. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22116167 · Cited by 40 · see citing works
TMS-EEG Research to Elucidate the Pathophysiological Neural Bases in Patients with Schizophrenia: A Systematic Review
Li, X., Honda, S., Nakajima, S., Wada, M., Yoshida, K., Daskalakis, Z. J., Mimura, M., & Noda, Y. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11050388 · Cited by 36 · see citing works
Neural circuit function redundancy in brain disorders
Mizusaki, B. E. P., & O'Donnell, C. (2021) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2021.07.008 · Cited by 31 · see citing works
Cytokine Signalling at the Microglial Penta-Partite Synapse
Aramideh, J. A., Vidal-Itriago, A., Morsch, M., & Graeber, M. B. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms222413186 · Cited by 35 · see citing works
Dopamine D2 receptors in pyramidal neurons in the medial prefrontal cortex regulate social behavior
Chen, H. H., Xiong, X.-X., Jin, S.-Y., He, X., He, X., Yang, J.-M., Gao, T., & Chen, Y. (2023) · Pharmacological Research · doi:10.1016/j.phrs.2023.107042 · Cited by 36 · see citing works
The potential involvement of inhaled iron (Fe) in the neurotoxic effects of ultrafine particulate matter air pollution exposure on brain development in mice
Sobolewski, M., Conrad, K., Marvin, E., Eckard, M. L., Goeke, C. M., Merrill, A. K., Welle, K. A., Jackson, B. P., Gelein, R. M., Chalupa, D., et al. (2022) · Particle and Fibre Toxicology · doi:10.1186/s12989-022-00496-5 · Cited by 36 · see citing works
Isolation and Characterization of Multi-Protein Complexes Enriched in the K-Cl Co-transporter 2 From Brain Plasma Membranes
Smalley, J. L., Kontou, G., Choi, C., Ren, Q., Albrecht, D., Abiraman, K., Santos, M. A. R., Bope, C. E., Deeb, T. Z., Davies, P. A., et al. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.563091 · Cited by 34 · see citing works
Synapse-Enriched m6A-Modified Malat1 Interacts with the Novel m6A Reader, DPYSL2, and Is Required for Fear-Extinction Memory
Madugalle, S. U., Liau, W., Zhao, Q., Li, X., Gong, H., Marshall, P. R., Periyakaruppiah, A., Zajaczkowski, E. L., Leighton, L. J., Ren, H., et al. (2023) · Journal of Neuroscience · doi:10.1523/jneurosci.0943-23.2023 · Cited by 32 · see citing works
Inhibitory Plasticity: From Molecules to Computation and Beyond
Gandolfi, D., Bigiani, A., Porro, C. A., & Mapelli, J. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21051805 · Cited by 34 · see citing works
Psychosocial functioning in the balance between autism and psychosis: evidence from three populations
Abu-Akel, A. M., Wood, S. J., Upthegrove, R., Chisholm, K., Lin, A. P., Hansen, P., Gillespie, S. M., Apperly, I. A., & Montag, C. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01543-5 · Cited by 32 · see citing works
Inhibitory dysfunction and social processing difficulties in autism: A comprehensive narrative review
Parrella, N.-F., Hill, A. T., Dipnall, L. M., Loke, Y. J., Enticott, P. G., & Ford, T. C. (2023) · Journal of Psychiatric Research · doi:10.1016/j.jpsychires.2023.11.014 · Cited by 32 · see citing works
Overlapping Molecular Pathways Leading to Autism Spectrum Disorders, Fragile X Syndrome, and Targeted Treatments
Salcedo‐Arellano, M. J., Cabal-Herrera, A. M., Punatar, R., Clark, C. J., Romney, C. A., & Hagerman, R. J. (2020) · Neurotherapeutics · doi:10.1007/s13311-020-00968-6 · Cited by 30 · see citing works
Orchestration of synaptic functions by WAVE regulatory complex‐mediated actin reorganization
Han, K. A., & Ko, J. (2023) · Experimental & Molecular Medicine · doi:10.1038/s12276-023-01004-1 · Cited by 31 · see citing works
Epilepsy- and intellectual disability-associated CYFIP2 interacts with both actin regulators and RNA-binding proteins in the neonatal mouse forebrain
Lee, Y., Zhang, Y., Kang, H., Bang, G., Kim, Y., Kang, H. R., Ma, R., Jin, C., Kim, J. Y., & Han, K. (2020) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2020.05.221 · Cited by 28 · see citing works
Quantity as a Fish Views It: Behavior and Neurobiology
Messina, A., Potrich, D., Perrino, M., Sheardown, E., Petrazzini, M. E. M., Luu, P., Nadtochiy, A., Truong, T. V., Sovrano, V. A., Fraser, S. E., et al. (2022) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2022.943504 · Cited by 28 · see citing works
SNX27-Mediated Recycling of Neuroligin-2 Regulates Inhibitory Signaling
Halff, E. F., Szulc, B. R., Lesept, F., & Kittler, J. T. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.10.096 · Cited by 28 · see citing works
Self-citation
FMRP and CYFIP1 at the Synapse and Their Role in Psychiatric Vulnerability
Clifton, N. E., Thomas, K. L., Wilkinson, L. S., Hall, J., & Trent, S. (2020) · Complex Psychiatry · doi:10.1159/000506858 · Cited by 28 · see citing works
CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes
Fricano-Kugler, C. J., Gordon, A., Shin, G. S., Gao, K., Nguyen, J., Berg, J. M., Starks, M., & Geschwind, D. H. (2019) · Molecular Autism · doi:10.1186/s13229-019-0278-0 · Cited by 27 · see citing works
Increasing astrogenesis in the developing hippocampus induces autistic‐like behavior in mice via enhancing inhibitory synaptic transmission
Chen, J., Ma, X., Zhao, H., Wang, X., Xu, M., Wang, H., Yang, T., Peng, C., Liu, S., Huang, M., et al. (2021) · Glia · doi:10.1002/glia.24091 · Cited by 23 · see citing works
Dysregulated translational control in brain disorders: from genes to behavior.
Wiebe, S., Nagpal, A., & Sonenberg, N. (2020) · Current Opinion in Genetics and Development · doi:10.1016/j.gde.2020.05.005 · Cited by 18 · see citing works
Haploinsufficiency of Cyfip2 Causes Lithium‐Responsive Prefrontal Dysfunction
Lee, S., Zhang, Y., Park, J.-A., Kim, B., Kim, Y., Lee, S., Kim, G. H., Huh, Y. H., Lee, B., Kim, Y., et al. (2020) · Annals of Neurology · doi:10.1002/ana.25827 · Cited by 22 · see citing works
TRESK channel contributes to depolarization-induced shunting inhibition and modulates epileptic seizures
Huang, W., Ke, Y., Zhu, J., Liu, S., Cong, J., Ye, H., Guo, Y., Wang, K., Zhang, Z., Meng, W., et al. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.109404 · Cited by 21 · see citing works
Enhanced Prefrontal Neuronal Activity and Social Dominance Behavior in Postnatal Forebrain Excitatory Neuron-Specific Cyfip2 Knock-Out Mice
Zhang, Y., Hyae, R. K., Lee, S.-H., Kim, Y., Ma, R., Jin, C., Lim, J.-E., Kim, S., Kang, Y., Kang, H., et al. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.574947 · Cited by 19 · see citing works
Evidence for a Contribution of the Nlgn3/Cyfip1/Fmr1 Pathway in the Pathophysiology of Autism Spectrum Disorders
Śledziowska, M., Galloway, J., & Baudouin, S. J. (2019) · Neuroscience · doi:10.1016/j.neuroscience.2019.10.011 · Cited by 16 · see citing works
Interacting effects of the MAM model of schizophrenia and antipsychotic treatment: Untargeted proteomics approach in adipose tissue.
Kučera, J., Horska, K., Hruska, P., Kuruczova, D., Micale, V., Ruda-Kucerova, J., & Bienertová-Vašků, J. (2020) · Progress in Neuro-psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2020.110165 · Cited by 14 · see citing works
CYFIP1 Dosages Exhibit Divergent Behavioral Impact via Diametric Regulation of NMDA Receptor Complex Translation in Mouse Models of Psychiatric Disorders
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Intellectual Disability and Behavioral Deficits Linked to CYFIP1 Missense Variants Disrupting Actin Polymerization
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“The Cyfip1 f/f mouse line (MDCK; EPD0555_2_B11; Allele: Cyfip1 tm2a(EUCOMM)Wtsi) was generated previously (31).”
Self-citation
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“While CYFIP1 has been shown to regulate the growth of retinal axons in zebra ﬁ sh 33 , and its role in post-synaptic development and transmission has been previously studied 17,34,35 , very little is known about how CYFIP1 regulates axonal development and circuit formation.”
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The autism and schizophrenia associated genes CYFIP1 and Ahi1 in synaptic signalling and neuronal development
Davenport, E. C. (2016) · UCL Discovery (University College London)
Self-citation
The autism and schizophrenia associated gene CYFIP1 is critical for the maintenance of dendritic complexity and the stabilization of mature spines
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Self-citation
The autism- and schizophrenia-associated protein CYFIP1 regulates bilateral brain connectivity and behaviour
Domínguez-Iturza, N., Lo, A. C., Shah, D., Armendáriz, M., Vannelli, A., Mercaldo, V., Trusel, M., Li, K. W., Gastaldo, D., Santos, A. R., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11203-y · Cited by 96 · see citing works
CYFIP1 Dosages Exhibit Divergent Behavioral Impact via Diametric Regulation of NMDA Receptor Complex Translation in Mouse Models of Psychiatric Disorders
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Cyfip1 Regulates Presynaptic Activity during Development
Hsiao, K., Harony-Nicolas, H., Buxbaum, J. D., Bozdagi-Gunal, O., & Benson, D. L. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.0511-15.2016 · Cited by 64 · see citing works

Authors: Davenport, E. C., Szulc, B. R., Drew, J., Taylor, J., Morgan, T., Higgs, N. F., López-Doménech, G., & Kittler, J. T.
Affiliations: University College London (GB)
Corresponding author: Kittler, Josef T.
ORCID: Davenport, Elizabeth C.
Drew, James
Taylor, James
Morgan, Toby
Higgs, Nathalie F.
Kittler, Josef T.
Venue: Cell Reports
Publisher: Elsevier BV
Published: 2019-02
Volume: 26
Issue: 8
Pages: 2037-2051.e6
ISSN: 2211-1247 (ISSN-L)
DOI: 10.1016/j.celrep.2019.01.092
PMC: PMC6381785
OpenAlex: W2915805767
Cited by: 125
References: 101
Citations by year: 2026: 6 · 2025: 15 · 2024: 14 · 2023: 16 · 2022: 15 · 2021: 17 · 2020: 32 · 2019: 10
FWCI: 8.84
Type: journal article
Language: en
Open access: gold
doi.org
Licence: cc-by
www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
creativecommons.org/licenses/by/4.0/ (vor)
Locations: Cell Reports (publishedVersion, cc-by)
bioRxiv (Cold Spring Harbor Laboratory) (acceptedVersion, cc-by-nc-nd)
Europe PMC (PubMed Central) (publishedVersion, cc-by)
PubMed Central (publishedVersion, cc-by)
PubMed (publishedVersion)
DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
UCL Discovery (University College London) (submittedVersion)
Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, cc-by)
Funders: Medical Research Council (G0802377, MR/N025644/1)
European Research Council (282430)
MRC
Lister Institute for Preventive Medicine
Topics: Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
Keywords: CYFIP1, CYFIP2, excitation-inhibition balance, synaptic inhibition, copy number variation, autism spectrum disorder, schizophrenia, intellectual disability, miniature postsynaptic currents, neuroligin-3, conditional knockout, dosage effect
MeSH terms: Animals, Autistic Disorder, Brain, Cells, Cultured, Chlorocebus aethiops, Female, Male, Membrane Proteins, Mice, Inbred C57BL, Nerve Tissue Proteins, Schizophrenia, Synapses, Cell Adhesion Molecules, Neuronal, Rats, Sprague-Dawley, Gene Deletion, Receptors, GABA, COS Cells, Excitatory Postsynaptic Potentials, Adaptor Proteins, Signal Transducing, Mice, Rats, Inhibitory Postsynaptic Potentials, Miniature Postsynaptic Potentials

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Autism and Schizophrenia-Associated CYFIP1 Regulates the Balance of Synaptic Excitation and Inhibition

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