CLK2 inhibition ameliorates autistic features associated with SHANK3 deficiency

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders

Durand, C. M., Betancur, C., Boeckers, T. M., Bockmann, J., Chaste, P., Fauchereau, F., Nygren, G., Rastam, M., Gillberg, I. C., Anckarsäter, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1933 · Cited by 1,602 · see citing works

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 · see citing works

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

Bozdagi, O., Sakurai, T., Papapetrou, D., Wang, X., Dickstein, D. L., Takahashi, N., Kajiwara, Y., Yang, M., Katz, A. M., Scattoni, M. L., et al. (2010) · Molecular Autism · doi:10.1186/2040-2392-1-15 · Cited by 584 · see citing works

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3

Wang, X., McCoy, P. A., Rodriguiz, R. M., Pan, Y., Je, H. S., Roberts, A. C., Kim, C. J., Berrios, J., Colvin, J. S., Bousquet-Moore, D., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddr212 · Cited by 537 · see citing works

Autism and tuberous sclerosis

Smalley, S. L., Tanguay, P. E., Smith, M., & Gutierrez, G. (1992) · Journal of Autism and Developmental Disorders · doi:10.1007/bf01048239 · Cited by 518 · see citing works

Modeling Autism by SHANK Gene Mutations in Mice

Jiang, Y.-H., & Ehlers, M. D. (2013) · Neuron · doi:10.1016/j.neuron.2013.03.016 · Cited by 488 · see citing works

SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients

Shcheglovitov, A., Shcheglovitova, O., Yazawa, M., Portmann, T., Shu, R., Sebastiano, V., Krawisz, A., Froehlich, W., Bernstein, J. A., Hallmayer, J. F., et al. (2013) · Nature · doi:10.1038/nature12618 · Cited by 470 · see citing works

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Phelan, K., & McDermid, H. E. (2011) · Molecular Syndromology · doi:10.1159/000334260 · Cited by 460 · see citing works

De novo mutations in the gene encoding the synaptic scaffolding protein <i>SHANK3</i> in patients ascertained for schizophrenia

Gauthier, J., Champagne, N., Lafrenière, R. G., Xiong, L., Spiegelman, D., Brustein, E., Lapointe, M., Peng, H., Côté, M., Noreau, A., et al. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0906232107 · Cited by 369 · see citing works

Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent <i>Shank3</i> Null Mutant Mice

Yang, M., Bozdagi, O., Scattoni, M. L., Wöhr, M., Roullet, F. I., Katz, A. M., Abrams, D. N., Kalikhman, D., Simon, H., Woldeyohannes, L., et al. (2012) · The Journal of Neuroscience · doi:10.1523/jneurosci.6107-11.2012 · Cited by 369 · see citing works

Small molecule-induced cytosolic activation of protein kinase Akt rescues ischemia-elicited neuronal death

Jo, H., Mondal, S., Tan, D. J., Nagata, E., Takizawa, S., Sharma, A. K., Hou, Q., Shanmugasundaram, K., Prasad, A., Tung, J. K., et al. (2012) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1202810109 · Cited by 368 · see citing works

SHANK3 overexpression causes manic-like behaviour with unique pharmacogenetic properties

Han, K., Holder, J. L., Schaaf, C. P., Lu, H., Chen, H., Kang, H., Tang, J., Wu, Z., Hao, S., Cheung, S. W., et al. (2013) · Nature · doi:10.1038/nature12630 · Cited by 351 · see citing works

Shank Expression Is Sufficient to Induce Functional Dendritic Spine Synapses in Aspiny Neurons

Roussignol, G., Ango, F., Romorini, S., Tu, J. C., Sala, C., Worley, P. F., Bockaert, J., & Fagni, L. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.4354-04.2005 · Cited by 293 · see citing works

Loss of Predominant Shank3 Isoforms Results in Hippocampus-Dependent Impairments in Behavior and Synaptic Transmission

Kouser, M., Speed, H. E., Dewey, C. M., Reimers, J. M., Widman, A. J., Gupta, N., Liu, S., Jaramillo, T. C., Bangash, M. A., Xiao, B., et al. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.3017-13.2013 · Cited by 283 · see citing works

Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators

Duffney, L. J., Zhong, P., Wei, J., Matas, E., Cheng, J., Qin, L., Ma, K., Dietz, D. M., Kajiwara, Y., Buxbaum, J. D., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.04.064 · Cited by 281 · see citing works

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Redin, C. E., Gérard, B., Lauer, J., Herenger, Y., Muller, J., Quartier, A., Masurel, A., Willems, M., Lesca, G., Chehadeh, S. E., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2014-102554 · Cited by 262 · see citing works

Reduced AKT/mTOR signaling and protein synthesis dysregulation in a Rett syndrome animal model

Ricciardi, S., Boggio, E. M., Grosso, S., Lonetti, G., Forlani, G., Stefanelli, G., Calcagno, E., Morello, N., Landsberger, N., Biffo, S., et al. (2011) · Human Molecular Genetics · doi:10.1093/hmg/ddq563 · Cited by 223 · see citing works

Identification of a New Family of Protein Phosphatase 2A Regulatory Subunits

McCright, B., & Virshup, D. M. (1995) · Journal of Biological Chemistry · doi:10.1074/jbc.270.44.26123 · Cited by 222 · see citing works

PTEN mutation in a family with Cowden syndrome and autism

Goffin, A., Hoefsloot, L. H., Bosgoed, E., Swillen, A., & Fryns, J. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1477 · Cited by 215 · see citing works

Importance of Shank3 Protein in Regulating Metabotropic Glutamate Receptor 5 (mGluR5) Expression and Signaling at Synapses

Verpelli, C., Dvoretskova, E., Vicidomini, C., Rossi, F., Chiappalone, M., Schoen, M., Di Stefano, B., Mantegazza, R., Broccoli, V., Böckers, T. M., et al. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m111.258384 · Cited by 197 · see citing works

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

Bozdagi, O., Tavassoli, T., & Buxbaum, J. D. (2013) · Molecular Autism · doi:10.1186/2040-2392-4-9 · Cited by 176 · see citing works

Impairment of TrkB-PSD-95 Signaling in Angelman Syndrome

Cao, C., Rioult-Pedotti, M. S., Migani, P., Yu, C. J., Tiwari, R. K., Parang, K., Spaller, M. R., Goebel, D. J., & Marshall, J. J. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001478 · Cited by 170 · see citing works

A PP2A Regulatory Subunit Regulates C. elegans Insulin/IGF-1 Signaling by Modulating AKT-1 Phosphorylation

Padmanabhan, S., Mukhopadhyay, A., Narasimhan, S. D., Tesz, G. J., Czech, M., & Tissenbaum, H. A. (2009) · Cell · doi:10.1016/j.cell.2009.01.025 · Cited by 170 · see citing works

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome

Kolevzon, A. L., Bush, L., Wang, A. A., Halpern, D. B., Frank, Y., Grodberg, D., Rapaport, R., Tavassoli, T., Chaplin, W. F., Soorya, L. V., et al. (2014) · Molecular Autism · doi:10.1186/2040-2392-5-54 · Cited by 141 · see citing works

Cdc2-like Kinase 2 Is an Insulin-Regulated Suppressor of Hepatic Gluconeogenesis

Rodgers, J. T., Haas, W., Gygi, S. P., & Puigserver, P. (2010) · Cell Metabolism · doi:10.1016/j.cmet.2009.11.006 · Cited by 132 · see citing works

Clk2 and B56β mediate insulin-regulated assembly of the PP2A phosphatase holoenzyme complex on Akt

Rodgers, J. T., Vogel, R. O., & Puigserver, P. (2011) · Molecular Cell · doi:10.1016/j.molcel.2011.02.007 · Cited by 99 · see citing works

Conversion of a Single Polypharmacological Agent into Selective Bivalent Inhibitors of Intracellular Kinase Activity

Gower, C. M., Thomas, J. R., Harrington, E. M., Murphy, J., Chang, M. E. K., Cornella‐Taracido, I., Jain, R. K., Schirle, M., & Maly, D. J. (2015) · ACS Chemical Biology · doi:10.1021/acschembio.5b00847 · Cited by 26 · see citing works

p53 inhibits CRISPR–Cas9 engineering in human pluripotent stem cells

Ihry, R. J., Worringer, K. A., Salick, M. R., Frias, E., Ho, D., Theriault, K., Kommineni, S., Chen, J., Sondey, M., Ye, C., et al. (2018) · Nature Medicine · doi:10.1038/s41591-018-0050-6 · Cited by 978 · see citing works

SHANK proteins: roles at the synapse and in autism spectrum disorder

Monteiro, P., & Feng, G. (2017) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.183 · Cited by 681 · see citing works

Social deficits in Shank3-deficient mouse models of autism are rescued by histone deacetylase (HDAC) inhibition

Qin, L., Ma, K., Wang, Z.-J., Hu, Z., Matas, E., Wei, J., & Yan, Z. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0110-8 · Cited by 240 · see citing works

A standardized social preference protocol for measuring social deficits in mouse models of autism

Rein, B. A., Ma, K., & Yan, Z. (2020) · Nature Protocols · doi:10.1038/s41596-020-0382-9 · Cited by 238 · see citing works

Abnormal mTOR Activation in Autism

Winden, K. D., Ebrahimi‐Fakhari, D., & Şahin, M. (2018) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-080317-061747 · Cited by 222 · see citing works

Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling

Richter, M., Murtaza, N., Scharrenberg, R., White, S. H., Johanns, O., Walker, S., Yuen, R. K. C., Schwanke, B., Bedürftig, B., Henis, M., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0025-5 · Cited by 169 · see citing works

Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

Harony-Nicolas, H., Kay, M., Hoffmann, J. D., Klein, M. E., Bozdagi-Gunal, O., Riad, M., Daskalakis, N. P., Sonar, S., Castillo, P. E., Hof, P. R., et al. (2017) · eLife · doi:10.7554/elife.18904 · Cited by 168 · see citing works

SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons

Zaslavsky, K., Zhang, W.-B., McCready, F. P., Rodrigues, D. C., Deneault, E., Loo, C., Zhao, M., Ross, P. J., El Hajjar, J., Romm, A., et al. (2019) · Nature Neuroscience · doi:10.1038/s41593-019-0365-8 · Cited by 174 · see citing works

Glutamatergic synapses in neurodevelopmental disorders

Moretto, E., Murru, L., Martano, G., Sassone, J., & Passafaro, M. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.09.014 · Cited by 136 · see citing works

SHANK proteins limit integrin activation by directly interacting with Rap1 and R-Ras

Lilja, J., Zacharchenko, T., Γεωργιάδου, Μ., Jacquemet, G., Franceschi, N. D., Peuhu, E., Hamidi, H., Pouwels, J., Martens, V., Nia, F. H., et al. (2017) · Nature Cell Biology · doi:10.1038/ncb3487 · Cited by 125 · see citing works

Dual-Specificity, Tyrosine Phosphorylation-Regulated Kinases (DYRKs) and cdc2-Like Kinases (CLKs) in Human Disease, an Overview

Lindberg, M. F., & Meijer, L. (2021) · International Journal of Molecular Sciences · doi:10.3390/ijms22116047 · Cited by 123 · see citing works

Autism-Associated Shank3 Is Essential for Homeostatic Compensation in Rodent V1

Tatavarty, V., Pacheco, A. T., Kuhnle, C. G., Lin, H. K., Koundinya, P., Miska, N. J., Hengen, K. B., Wagner, F. F., Hooser, S. D. V., & Turrigiano, G. G. (2020) · Neuron · doi:10.1016/j.neuron.2020.02.033 · Cited by 122 · see citing works

Synaptic Actin Dysregulation, a Convergent Mechanism of Mental Disorders?

Yan, Z., Kim, E., Datta, D., Lewis, D. A., & Soderling, S. H. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.2360-16.2016 · Cited by 120 · see citing works

Stem cell-derived neurons from autistic individuals with SHANK3 mutation show morphogenetic abnormalities during early development

Kathuria, A., Nowosiad, P., Jagasia, R., Aigner, S., Taylor, R. D., Andreae, L. C., Gatford, N. J. F., Lucchesi, W., Srivastava, D. P., & Price, J. (2017) · Molecular Psychiatry · doi:10.1038/mp.2017.185 · Cited by 114 · see citing works

Behavioral Phenotyping of an Improved Mouse Model of Phelan–McDermid Syndrome with a Complete Deletion of the Shank3 Gene

Drapeau, E., Riad, M., Kajiwara, Y., & Buxbaum, J. D. (2018) · eNeuro · doi:10.1523/eneuro.0046-18.2018 · Cited by 104 · see citing works

Shank3 mutation in a mouse model of autism leads to changes in the S-nitroso-proteome and affects key proteins involved in vesicle release and synaptic function

Amal, H., Barak, B., Bhat, V. B., Gong, G., Joughin, B. A., Wang, X., Wishnok, J. S., Feng, G., & Tannenbaum, S. R. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0113-6 · Cited by 101 · see citing works

Anti‐tumor efficacy of a novel CLK inhibitor via targeting RNA splicing and MYC‐dependent vulnerability

Iwai, K., Yaguchi, M., Nishimura, K., Yamamoto, Y., Tamura, T., Nakata, D., Dairiki, R., Kawakita, Y., Mizojiri, R., Ito, Y., et al. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201708289 · Cited by 101 · see citing works

Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

Darville, H., Poulet, A., Amsellem, F., Chatrousse, L., Pernelle, J., Boissart, C., Héron, D., Nava, C., Perrier, A. L., Jarrige, M., et al. (2016) · EBioMedicine · doi:10.1016/j.ebiom.2016.05.032 · Cited by 95 · see citing works

Tau Reduction Prevents Key Features of Autism in Mouse Models

Tai, C., Chang, C.-W., Yu, G.-Q., Lopez, I., Yu, X., Wang, X., Guo, W., & Mucke, L. (2020) · Neuron · doi:10.1016/j.neuron.2020.01.038 · Cited by 96 · see citing works

Sociability Deficits and Altered Amygdala Circuits in Mice Lacking Pcdh10, an Autism Associated Gene

Schoch, H., Kreibich, A. S., Ferri, S. L., White, R. S., Bohorquez, D., Banerjee, A., Port, R. G., Dow, H. C., Cordero, L., Pallathra, A. A., et al. (2017) · Biological Psychiatry · doi:10.1016/j.biopsych.2016.06.008 · Cited by 92 · see citing works

Comparison of SHANK3 deficiency in animal models: phenotypes, treatment strategies, and translational implications

Delling, J. P., & Boeckers, T. M. (2021) · Journal of Neurodevelopmental Disorders · doi:10.1186/s11689-021-09397-8 · Cited by 96 · see citing works

Metformin for treatment of fragile X syndrome and other neurological disorders

Gantois, I., Popic, J., Khoutorsky, A., & Sonenberg, N. (2019) · Annual Review of Medicine · doi:10.1146/annurev-med-081117-041238 · Cited by 87 · see citing works

Genome-wide screening in human kidney organoids identifies developmental and disease-related aspects of nephrogenesis

Ungricht, R., Guibbal, L., Lasbennes, M.-C., Orsini, V., Beibel, M., Waldt, A., Cuttat, R., Carbone, W., Basler, A., Roma, G., et al. (2021) · Cell stem cell · doi:10.1016/j.stem.2021.11.001 · Cited by 86 · see citing works

Modeling psychiatric disorders: from genomic findings to cellular phenotypes

Falk, A., Heine, V. M., Harwood, A. J., Sullivan, P. F., Peitz, M., Brüstle, O., Shen, S., Sun, Y.-M., Glover, J. C., Posthuma, D., et al. (2016) · Molecular Psychiatry · doi:10.1038/mp.2016.89 · Cited by 86 · see citing works

Proteomic Analysis of Post-synaptic Density Fractions from Shank3 Mutant Mice Reveals Brain Region Specific Changes Relevant to Autism Spectrum Disorder

Reim, D., Distler, U., Halbedl, S., Verpelli, C., Sala, C., Bockmann, J., Tenzer, S., Boeckers, T. M., & Schmeißer, M. J. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00026 · Cited by 81 · see citing works

Cdc-Like Kinases (CLKs): Biology, Chemical Probes, and Therapeutic Potential

Moyano, P. M., Němec, V., & Paruch, K. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21207549 · Cited by 80 · see citing works

Cdc2-like kinases: structure, biological function and therapeutic targets for diseases

Song, M., Pang, L.-P., Zhang, M., Qu, Y., Laster, K. V., & Dong, Z. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01409-4 · Cited by 78 · see citing works

Exploring the mechanisms underlying excitation/inhibition imbalance in human iPSC-derived models of ASD

Culotta, L., & Penzes, P. (2020) · Molecular Autism · doi:10.1186/s13229-020-00339-0 · Cited by 77 · see citing works

Protein phosphatase 2A – structure, function and role in neurodevelopmental disorders

Sandal, P., Jong, C. J., Merrill, R. A., Song, J., & Strack, S. (2021) · Journal of Cell Science · doi:10.1242/jcs.248187 · Cited by 72 · see citing works

Genome-Scale CRISPR Screens Identify Human Pluripotency-Specific Genes

Ihry, R. J., Salick, M. R., Ho, D. J., Sondey, M., Kommineni, S., Paula, S., Raymond, J., Henry, B., Frias, E., Wang, Q., et al. (2019) · Cell Reports · doi:10.1016/j.celrep.2019.03.043 · Cited by 71 · see citing works

Autism-associated SHANK3 mutations impair maturation of neuromuscular junctions and striated muscles

Lutz, A.-K., Pfaender, S., Incearap, B., Ioannidis, V., Ottonelli, I., Föhr, K. J., Cammerer, J., Zoller, M., Higelin, J., Giona, F., et al. (2020) · Science Translational Medicine · doi:10.1126/scitranslmed.aaz3267 · Cited by 73 · see citing works

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

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

Suppression of Akt-mTOR pathway rescued the social behavior in Cntnap2-deficient mice

Xing, X., Zhang, J., Wu, K., Cao, B., Li, X., Jiang, F., Hu, Z., Xia, K., & Li, J. (2019) · Scientific Reports · doi:10.1038/s41598-019-39434-5 · Cited by 71 · see citing works

Shank and Zinc Mediate an AMPA Receptor Subunit Switch in Developing Neurons

Ha, H., Leal‐Ortiz, S., Lalwani, K., Kiyonaka, S., Hamachi, I., Mysore, S. P., Montgomery, J. M., Garner, C. C., Huguenard, J. R., & Kim, S. A. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00405 · Cited by 66 · see citing works

Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations

Gouder, L., Vitrac, A., Goubran‐Botros, H., Danckaert, A., Tinévez, J.-Y., André-Leroux, G., Atanasova, E., Lemière, N., Biton, A., Leblond, C. S., et al. (2019) · Scientific Reports · doi:10.1038/s41598-018-36993-x · Cited by 66 · see citing works

An autism-linked missense mutation in SHANK3 reveals the modularity of Shank3 function

Wang, L., Pang, K., Han, K., Adamski, C. J., Wang, W., He, L.-J., Lai, J. K. H., Bondar, V. V., Duman, J. G., Richman, R., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0324-x · Cited by 65 · see citing works

Shank3 ameliorates neuronal injury after cerebral ischemia/reperfusion via inhibiting oxidative stress and inflammation

Zhang, H., Feng, Y., Si, Y., Lu, C., Wang, J., Wang, S., Li, L., Xie, W., Yue, Z., Jia, Y., et al. (2023) · Redox Biology · doi:10.1016/j.redox.2023.102983 · Cited by 63 · see citing works

What we can learn from a genetic rodent model about autism

Möhrle, D., Fernández, M. C., Peñagarikano, O., Frick, A., Allman, B. L., & Schmid, S. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.12.015 · Cited by 59 · see citing works

Development of an orally available inhibitor of CLK1 for skipping a mutated dystrophin exon in Duchenne muscular dystrophy

Sako, Y., Ninomiya, K., Okuno, Y., Toyomoto, M., Nishida, A., Koike, Y., Ohe, K., Kii, I., Yoshida, S., Hashimoto, N., et al. (2017) · Scientific Reports · doi:10.1038/srep46126 · Cited by 60 · see citing works

Mechanisms Underlying Circuit Dysfunction in Neurodevelopmental Disorders

Exposito-Alonso, D., & Rico, B. (2022) · Annual Review of Genetics · doi:10.1146/annurev-genet-072820-023642 · Cited by 49 · see citing works

Homozygous TBC1 domain-containing kinase (TBCK) mutation causes a novel lysosomal storage disease – a new type of neuronal ceroid lipofuscinosis (CLN15)?

Beck‐Wödl, S., HARZER, K., Sturm, M., Buchert, R., Rieß, O., Mennel, H.-D., Latta, E., Pagenstecher, A., & Keber, U. (2018) · Acta Neuropathologica Communications · doi:10.1186/s40478-018-0646-6 · Cited by 51 · see citing works

Comparative characterization of human induced pluripotent stem cells (hiPSC) derived from patients with schizophrenia and autism

Grunwald, L.-M., Breitmeyer, R., Haag, K., Buckenmaier, S., Eberle, M.-C., Wildgruber, D., Storchak, H., Kriebel, M., Weißgraeber, S., Mathew, L. A., et al. (2019) · Translational Psychiatry · doi:10.1038/s41398-019-0517-3 · Cited by 51 · see citing works

Uncovering the Functional Link Between SHANK3 Deletions and Deficiency in Neurodevelopment Using iPSC-Derived Human Neurons

Huang, G., Chen, S., Chen, X., Zheng, J., Xu, Z., Torshizi, A. D., Gong, S., Chen, Q., Ma, X., Yu, J., et al. (2019) · Frontiers in Neuroanatomy · doi:10.3389/fnana.2019.00023 · Cited by 50 · see citing works

Ectodermal origins of the skin-brain axis: a novel model for the developing brain, inflammation, and neurodevelopmental conditions

Jameson, C., Boulton, K., Silove, N., Nanan, R. K. H., & Guastella, A. J. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01829-8 · Cited by 49 · see citing works

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy

Ortiz-Gonzalez, X. R., Tintos-Hernández, J. A., Keller, K. N., Li, X., Foley, A. R., Bharucha-Goebel, D. X., Kessler, S. K., Yum, S. W., Crino, P. B., He, M., et al. (2017) · Annals of Neurology · doi:10.1002/ana.25130 · Cited by 49 · see citing works

Resolving the Synaptic versus Developmental Dichotomy of Autism Risk Genes

Heavner, W. E., & Smith, S. E. P. (2020) · Trends in Neurosciences · doi:10.1016/j.tins.2020.01.009 · Cited by 48 · see citing works

Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies

Sabitha, K. R., Shetty, A. K., & Upadhya, D. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.12.025 · Cited by 48 · see citing works

Striatal Transcriptome and Interactome Analysis of Shank3-overexpressing Mice Reveals the Connectivity between Shank3 and mTORC1 Signaling

Lee, Y., Kim, S. G., Lee, B., Zhang, Y., Kim, Y., Kim, S., Kim, E., Kang, H., & Han, K. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00201 · Cited by 46 · see citing works

Structural characterization of polysaccharide purified from Hericium erinaceus fermented mycelium and its pharmacological basis for application in Alzheimer's disease: Oxidative stress related calcium homeostasis

Hu, W., Song, M., Wang, C., Guo, Z., Li, Y., & Wang, D. (2021) · International Journal of Biological Macromolecules · doi:10.1016/j.ijbiomac.2021.10.117 · Cited by 46 · see citing works

The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders – Evidence from human neuronal cell models

Réthelyi, J., Vincze, K., Schall, D., Glennon, J. C., & Berkel, S. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105330 · Cited by 49 · see citing works

Sodium valproate rescues expression of TRANK1 in iPSC-derived neural cells that carry a genetic variant associated with serious mental illness

Jiang, X., Detera‐Wadleigh, S. D., Akula, N., Mallon, B. S., Hou, L., Xiao, T., Felsenfeld, G., Gu, X., & McMahon, F. J. (2018) · Molecular Psychiatry · doi:10.1038/s41380-018-0207-1 · Cited by 45 · see citing works

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

Breen, M. S., Browne, A., Hoffman, G. E., Stathopoulos, S., Brennand, K., Buxbaum, J. D., & Drapeau, E. (2020) · Molecular Autism · doi:10.1186/s13229-020-00355-0 · Cited by 41 · see citing works

Home-cage hypoactivity in mouse genetic models of autism spectrum disorder

Angelakos, C. C., Tudor, J. C., Ferri, S. L., Jongens, T. A., & Abel, T. G. (2019) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2019.02.010 · Cited by 42 · see citing works

NGL-2 Deletion Leads to Autistic-like Behaviors Responsive to NMDAR Modulation

Um, S. M., Ha, S., Lee, H., Kim, J., Kim, K., Shin, W., Cho, Y. S., Roh, J. D., Kang, J., Yoo, T., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2018.05.087 · Cited by 40 · see citing works

Integrative Brain Transcriptome Analysis Reveals Region-Specific and Broad Molecular Changes in Shank3-Overexpressing Mice

Jin, C., Kang, H., Ryu, J. R., Kim, S., Zhang, Y., Lee, Y., Kim, Y., & Han, K. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00250 · Cited by 41 · see citing works

Advancing social behavioral neuroscience by integrating ethology and comparative psychology methods through machine learning

Bordes, J., Miranda, L., Müller‐Myhsok, B., & Schmidt, M. V. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105243 · Cited by 42 · see citing works

SHANK genes in autism: Defining therapeutic targets

Mossa, A., Giona, F., Pagano, J., Sala, C., & Verpelli, C. (2017) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.11.019 · Cited by 39 · see citing works

CDC2-like (CLK) protein kinase inhibition as a novel targeted therapeutic strategy in prostate cancer

Uzor, S., Porazinski, S. R., Li, L., Clark, B., Ajiro, M., Iida, K., Hagiwara, M., Alqasem, A. A., Perks, C. M., Wilson, I. D., et al. (2021) · Scientific Reports · doi:10.1038/s41598-021-86908-6 · Cited by 39 · see citing works

SHANK2 Mutations Result in Dysregulation of the ERK1/2 Pathway in Human Induced Pluripotent Stem Cells-Derived Neurons and Shank2(−/−) Mice

Lutz, A.-K., Arévalo, A. P., Ioannidis, V., Stirmlinger, N., Demestre, M., Delorme, R., Bourgeron, T., & Boeckers, T. M. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.773571 · Cited by 37 · see citing works

Developmental impaired Akt signaling in the Shank1 and Shank3 double knock-out mice

Mossa, A., Pagano, J., Ponzoni, L., Tozzi, A., Vezzoli, E., Sciaccaluga, M., Costa, C., Beretta, S., Francolini, M., Sala, M., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-020-00979-x · Cited by 37 · see citing works

Structural mechanism for inhibition of PP2A-B56α and oncogenicity by CIP2A

Pavic, K., Gupta, N., Omella, J. D., Derua, R., Aakula, A., Huhtaniemi, R., Määttä, J. A., Höfflin, N., Okkeri, J., Wang, Z., et al. (2023) · Nature Communications · doi:10.1038/s41467-023-36693-9 · Cited by 36 · see citing works

Dosage-sensitive genes in autism spectrum disorders: From neurobiology to therapy

Javed, S., Selliah, T., Lee, Y., & Huang, W. (2020) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2020.08.009 · Cited by 31 · see citing works

Absence of familiarity triggers hallmarks of autism in mouse model through aberrant tail-of-striatum and prelimbic cortex signaling

Krüttner, S., Falasconi, A., Valbuena, S., Galimberti, I., Bouwmeester, T., Arber, S., & Caroni, P. (2022) · Neuron · doi:10.1016/j.neuron.2022.02.001 · Cited by 33 · see citing works

HuR controls glutaminase RNA metabolism

Adamóski, D., dos Reis, L. M., Mafra, A. C. P., Corrêa‐da‐Silva, F., Moraes‐Vieira, P. M., Berindan‐Neagoe, I., Călin, G. A., & Dias, S. M. G. (2024) · Nature Communications · doi:10.1038/s41467-024-49874-x · Cited by 32 · see citing works

X‐ray Structures and Feasibility Assessment of CLK2 Inhibitors for Phelan–McDermid Syndrome

Kallen, J. A., Bergsdorf, C., Arnaud, B., Bernhard, M., Brichet, M., Cobos‐Correa, A., Elhajouji, A., Freuler, F., Galimberti, I., Guibourdenche, C., et al. (2018) · ChemMedChem · doi:10.1002/cmdc.201800344 · Cited by 32 · see citing works

Kinase Signaling in Dendritic Development and Disease

Nourbakhsh, K., & Yadav, S. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.624648 · Cited by 30 · see citing works

A kinome-wide RNAi screen identifies ERK2 as a druggable regulator of Shank3 stability

Wang, L., Adamski, C. J., Bondar, V. V., Craigen, E., Collette, J. R., Pang, K., Han, K., Jain, A., Jung, S. Y., Liu, Z., et al. (2019) · Molecular Psychiatry · doi:10.1038/s41380-018-0325-9 · Cited by 30 · see citing works

Recent genetic and functional insights in autism spectrum disorder

Nakanishi, M., Anderson, M. P., & Takumi, T. (2019) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000718 · Cited by 29 · see citing works

Is insulin growth factor-1 the future for treating autism spectrum disorder and/or schizophrenia?

Khalil, R. B. (2016) · Medical Hypotheses · doi:10.1016/j.mehy.2016.12.004 · Cited by 29 · see citing works

Autism‐associated Shank3 mutations alter mGluR expression and mGluR‐dependent but not NMDA receptor‐dependent long‐term depression

Lee, K., Vyas, Y., Garner, C. C., & Montgomery, J. M. (2019) · Synapse · doi:10.1002/syn.22097 · Cited by 26 · see citing works

CNTNAP2 intracellular domain (CICD) generated by γ-secretase cleavage improves autism-related behaviors

Zhang, J., Cai, F., Lu, R., Xing, X., Xu, L., Wu, K., Gong, Z., Zhang, Q., Zhang, Y., Xing, M., et al. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01431-6 · Cited by 26 · see citing works

Proteomic Investigations of Autism Spectrum Disorder: Past Findings, Current Challenges, and Future Prospects

Abraham, J. R., Szoko, N., & Natowicz, M. R. (2019) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-05542-4_12 · Cited by 25 · see citing works

Intracellular Communication among Morphogen Signaling Pathways during Vertebrate Body Plan Formation

Takebayashi‐Suzuki, K., & Suzuki, A. (2020) · Genes · doi:10.3390/genes11030341 · Cited by 24 · see citing works

LF-rTMS ameliorates social dysfunction of FMR1 mice via modulating Akt/GSK-3β signaling

Hou, Y., Zhao, J., Yang, D., Xuan, R., Xie, R., Wang, M., Mo, H., Liang, L., Wang, W., Wu, S., et al. (2021) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2021.02.086 · Cited by 24 · see citing works

Development of Cdc2-like Kinase 2 Inhibitors: Achievements and Future Directions

Qin, Z., Qin, L., Feng, X., Li, Z., & Bian, J. (2021) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.1c00985 · Cited by 24 · see citing works

A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder

Loureiro, L. O., Howe, J., Reuter, M. S., Iaboni, A., Calli, K., Roshandel, D., Pritišanac, I., Moses, A. M., Forman-Kay, J. D., Trost, B., et al. (2021) · npj Genomic Medicine · doi:10.1038/s41525-021-00254-0 · Cited by 26 · see citing works

Estrogen‐related receptor β activation and isoform shifting by cdc2‐like kinase inhibition restricts migration and intracranial tumor growth in glioblastoma

Tiek, D. M., Khatib, S. A., Trepicchio, C. J., Heckler, M. M., Divekar, S. D., Sarkaria, J. N., Glasgow, E. F., & Riggins, R. B. (2019) · The FASEB Journal · doi:10.1096/fj.201901075r · Cited by 23 · see citing works

Impaired OTUD7A-dependent Ankyrin regulation mediates neuronal dysfunction in mouse and human models of the 15q13.3 microdeletion syndrome

Unda, B. K., Chalil, L., Yoon, S., Kilpatrick, S., Irwin, C. L., Xing, S., Murtaza, N., Cheng, A., Brown, C. O., Afonso, A., et al. (2023) · Molecular Psychiatry · doi:10.1038/s41380-022-01937-5 · Cited by 22 · see citing works

Neural Stem Cells from Shank3-ko Mouse Model Autism Spectrum Disorders

Grasselli, C., Carbone, A., Panelli, P., Giambra, V., Bossi, M., Mazzoccoli, G., & Filippis, L. D. (2019) · Molecular Neurobiology · doi:10.1007/s12035-019-01811-6 · Cited by 21 · see citing works

An IGFBP2-derived peptide promotes neuroplasticity and rescues deficits in a mouse model of Phelan-McDermid syndrome

Burgdorf, J. S., Yoon, S., Santos, M. D., Lammert, C. R., Moskal, J. R., & Penzes, P. (2022) · Molecular Psychiatry · doi:10.1038/s41380-022-01904-0 · Cited by 20 · see citing works

SHANK family on stem cell fate and development

Liu, X., Yuan, M., Lau, B. W.-M., & Li, Y. (2022) · Cell Death and Disease · doi:10.1038/s41419-022-05325-3 · Cited by 19 · see citing works

Behavioural Phenotypes and Neural Circuit Dysfunctions in Mouse Models of Autism Spectrum Disorder

Ferhat, A.-T. L. S., Halbedl, S., Schmeißer, M. J., Kas, M. J., Bourgeron, T., & Ey, E. (2017) · Advances in anatomy, embryology and cell biology · doi:10.1007/978-3-319-52498-6_5 · Cited by 18 · see citing works

Small Molecules: Therapeutic Application in Neuropsychiatric and Neurodegenerative Disorders

Schiavone, S., & Trabace, L. (2018) · Molecules · doi:10.3390/molecules23020411 · Cited by 19 · see citing works

The X-linked intellectual disability gene product and E3 ubiquitin ligase KLHL15 degrades doublecortin proteins to constrain neuronal dendritogenesis

Song, J., Merrill, R. A., Usachev, A. Y., & Strack, S. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.016210 · Cited by 18 · see citing works

Proteomic explorations of autism spectrum disorder

Szoko, N., McShane, A. J., & Natowicz, M. R. (2017) · Autism Research · doi:10.1002/aur.1803 · Cited by 18 · see citing works

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

Lin, R., Learman, L. N., Bangash, M. A., Melnikova, T., Leyder, E. C., Reddy, S. C., Naidoo, N. N., Park, J. M., Savonenko, A. V., & Worley, P. F. (2021) · Cell Reports · doi:10.1016/j.celrep.2021.110014 · Cited by 17 · see citing works

Autism Spectrum Disorder Genes: Disease-Related Networks and Compensatory Strategies

Lim, H. K., Yoon, J. H., & Song, M. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.922840 · Cited by 18 · see citing works

Temporal Quantitative Proteomics of mGluR-induced Protein Translation and Phosphorylation in Neurons

van Gelder, C. A. G. H., Penning, R., Veth, T. S., Catsburg, L. A. E., Hoogenraad, C. C., MacGillavry, H. D., & Altelaar, M. A. F. (2020) · Molecular & Cellular Proteomics · doi:10.1074/mcp.ra120.002199 · Cited by 16 · see citing works

Cdc2-like kinase 2 in the hypothalamus is necessary to maintain energy homeostasis

Quaresma, P. G. F., Weissmann, L., Zanotto, T. M., Santos, A. C., de Matos, A. H. B., Furigo, I. C., Simabuco, F. M., Donato, J., Bittencourt, J. C., Lopes‐Cendes, Í., et al. (2016) · International Journal of Obesity · doi:10.1038/ijo.2016.174 · Cited by 17 · see citing works

CLK2 mediates IκBα-independent early termination of NF-κB activation by inducing cytoplasmic redistribution and degradation

Li, S., Shu, Q.-P., Hai‐Meng, Z. H. O. U., Liu, Y.-Y., Fan, M., Liang, X.-Y., Qi, L.-Z., He, Y.-N., Liu, X., Du, X., et al. (2024) · Nature Communications · doi:10.1038/s41467-024-48288-z · Cited by 16 · see citing works

Disrupted extracellular matrix and cell cycle genes in autism-associated Shank3 deficiency are targeted by lithium

Ioannidis, V., Pandey, R., Bauer, H. F., Schön, M., Bockmann, J., Boeckers, T. M., & Lutz, A.-K. (2023) · Molecular Psychiatry · doi:10.1038/s41380-023-02362-y · Cited by 15 · see citing works

A chimeric mouse model to study human iPSC-derived neurons: the case of a truncating SHANK3 mutation

Vitrac, A., Pons, S., Bałkota, M., Lemière, N., Raïs, C., Bourgeois, J., Maskos, U., Bourgeron, T., & Cloëz-Tayarani, I. (2020) · Scientific Reports · doi:10.1038/s41598-020-70056-4 · Cited by 15 · see citing works

Protein Phosphorylation Signaling Cascades in Autism: The Role of mTOR Pathway

Бокша, И. С., Prokhorova, T. A., Терешкина, Е. Б., Savushkina, O. K., & Burbaeva, G. S. (2021) · Biochemistry (Moscow) · doi:10.1134/s0006297921050072 · Cited by 14 · see citing works

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

Yoo, Y.-E., Lee, S., Kim, W., Kim, H., Chung, C., Ha, S., Park, J., Chung, Y., Kang, H., & Kim, E. (2021) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2021.712576 · Cited by 12 · see citing works

A multifaceted approach for analyzing complex phenotypic data in rodent models of autism

Das, I., Estévez, M. A., Sarkar, A. A., & Banerjee‐Basu, S. (2019) · Molecular Autism · doi:10.1186/s13229-019-0263-7 · Cited by 13 · see citing works

Cdc2‐like kinase 2 (Clk2) promotes early neural development in Xenopus embryos

Virgirinia, R. P., Jahan, N., Okada, M., Takebayashi‐Suzuki, K., Yoshida, H., Nakamura, M., Akao, H., Yoshimoto, Y., Fatchiyah, F., Ueno, N., et al. (2019) · Development Growth & Differentiation · doi:10.1111/dgd.12619 · Cited by 13 · see citing works

Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal models

Megagiannis, P., Suresh, R., Rouleau, G. A., & Zhou, Y. (2022) · Advanced Drug Delivery Reviews · doi:10.1016/j.addr.2022.114562 · Cited by 12 · see citing works

Development of sex- and genotype-specific behavioral phenotypes in a Shank3 mouse model for neurodevelopmental disorders

Bauer, H. F., Delling, J. P., Bockmann, J., Boeckers, T. M., & Schön, M. (2023) · Frontiers in Behavioral Neuroscience · doi:10.3389/fnbeh.2022.1051175 · Cited by 12 · see citing works

Neuromotor Development in the Shank3 Mouse Model of Autism Spectrum Disorder

Pillerová, M., Drobná, D., Szabó, J., Renczés, E., Borbélyová, V., Ostatníková, D., Celec, P., & Tóthová, Ľ. (2022) · Brain Sciences · doi:10.3390/brainsci12070872 · Cited by 11 · see citing works

The emerging roles of Shank3 in cardiac function and dysfunction

Kim, Y., Ko, T. H., Jin, C., Zhang, Y., Kang, H. R., Ma, R., Li, H., Choi, J., & Han, K. (2023) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2023.1191369 · Cited by 11 · see citing works

Shank3 modulates Rpl3 expression and protein synthesis via mGlu5: implications for Phelan McDermid syndrome

Giona, F., Beretta, S., Zippo, A. G., Stefanoni, A., Tomasoni, Z., Vicidomini, C., Ponzoni, L., Sala, M., Jones, C. K., Conn, P. J., et al. (2025) · Molecular Psychiatry · doi:10.1038/s41380-025-02947-9 · Cited by 11 · see citing works

Pharmacological modulation of developmental and synaptic phenotypes in human SHANK3 deficient stem cell-derived neuronal models

Thibaudeau, A., Schmitt, K., François, L., Chatrousse, L., Hoffmann, D., Cousin, L., Weiss, A., Vuidel, A., Jacob, C. B., Sommer, P., et al. (2024) · Translational Psychiatry · doi:10.1038/s41398-024-02947-3 · Cited by 6 · see citing works

Decreased expression of ribosomal protein Rpl3 contributes to behavioral deficits caused by Shank3 deficiencyPreprint

Verpelli, C., Giona, F., Beretta, S., Zippo, A. G., Vicidomini, C., Ponzoni, L., Sala, M., Jones, C. K., Conn, P. J., Böckers, T. M., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-2812308/v1

Shank3 deletion in PV neurons is associated with abnormal behaviors and neuronal functions that are rescued by increasing GABAergic signaling

Pagano, J., Landi, S., Stefanoni, A., Nardi, G., Albanesi, M., Bauer, H. F., Pracucci, E., Schön, M., Ratto, G. M., Boeckers, T. M., et al. (2023) · Molecular Autism · doi:10.1186/s13229-023-00557-2 · Cited by 38 · see citing works

Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators

Duffney, L. J., Zhong, P., Wei, J., Matas, E., Cheng, J., Qin, L., Ma, K., Dietz, D. M., Kajiwara, Y., Buxbaum, J. D., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.04.064 · Cited by 281 · see citing works