The DOI matches its Crossref record; 78 of the 78 references it cites were found in a registry or an index.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability
Open accessAbstract
Calcium/calmodulin-dependent protein kinase II (CAMK2) is one of the first proteins shown to be essential for normal learning and synaptic plasticity in mice, but its requirement for human brain development has not yet been established. Through a multi-center collaborative study based on a whole-exome sequencing approach, we identified 19 exceedingly rare de novo CAMK2A or CAMK2B variants in 24 unrelated individuals with intellectual disability. Variants were assessed for their effect on CAMK2 function and on neuronal migration. For both CAMK2A and CAMK2B, we identified mutations that decreased or increased CAMK2 auto-phosphorylation at Thr286/Thr287. We further found that all mutations affecting auto-phosphorylation also affected neuronal migration, highlighting the importance of tightly regulated CAMK2 auto-phosphorylation in neuronal function and neurodevelopment. Our data establish the importance of CAMK2A and CAMK2B and their auto-phosphorylation in human brain function and expand the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway.
Overview
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
Cites
Statistics
Verification
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Several dozen human mutations in CaMKII have been identified, and their molecular characteristics support many of the biochemical behaviors of CaMKII described above.”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“Many of the mutations decrease interactions between the kinase surface and the autoinhibitory segment previously shown to increase basal activity that is normally quite low.”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“These in turn increase autophosphorylation of T286 (or T287 in some isoforms) that further increases constitutive activity (429, 430).”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“The mutations were found by exome sequencing of infants with mild to severe developmental and intellectual disabilities.”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“However, none blocks generation of constitutive activity, comparable to the experimental Thr286A mutation, that would enable a test of Thr286 phosphorylation and constitutive CaMKII activity in human memory (428–430).”
From Synaptic memory and CaMKII (2023) · cites this paper as [429]
Experimental — accuracy not yet measured
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
I-TASSER server for protein 3D structure prediction
Zhang, Y. (2008) · BMC Bioinformatics · doi:10.1186/1471-2105-9-40 · Cited by 5,124
Malenka, R. C., & Bear, M. F. (2004) · Neuron · doi:10.1016/j.neuron.2004.09.012 · Cited by 3,968
Glutamate Receptor Ion Channels: Structure, Regulation, and Function
Traynelis, S. F., Wollmuth, L. P., McBain, C. J., Menniti, F. S., Vance, K. M., Ogden, K. K., Hansen, K. B., Yuan, H., Myers, S. J., & Dingledine, R. (2010) · Pharmacological Reviews · doi:10.1124/pr.109.002451 · Cited by 3,568
The contribution of de novo coding mutations to autism spectrum disorder
Iossifov, I., O’Roak, B. J., Sanders, S. J., Ronemus, M., Krumm, N., Levy, D., Stessman, H. A., Witherspoon, K. T., Vives, L., Patterson, K. E., et al. (2014) · Nature · doi:10.1038/nature13908 · Cited by 2,585
Self-citationNMDA receptor subunit diversity: impact on receptor properties, synaptic plasticity and disease
Paoletti, P., Bellone, C., & Zhou, Q. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3504 · Cited by 2,523
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
Yang, Y., Muzny, D. M., Reid, J. G., Bainbridge, M. N., Willis, A. S., Ward, P. A., Braxton, A. A., Beuten, J., Xia, F., Niu, Z., et al. (2013) · New England Journal of Medicine · doi:10.1056/nejmoa1306555 · Cited by 1,991
Self-citationDECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources
Firth, H. V., Richards, S. M., Bevan, A. P., Clayton, S., Corpas, M., Rajan, D., Vooren, S. V., Moreau, Y., Pettett, R. M., & Carter, N. P. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.03.010 · Cited by 1,990
The molecular basis of CaMKII function in synaptic and behavioural memory
Lisman, J., Schulman, H., & Cline, H. (2002) · Nature Reviews Neuroscience · doi:10.1038/nrn753 · Cited by 1,860
Control of memory formation through regulated expression of a CaMKII transgene
Mayford, M., Bach, M. E., Huang, Y.-Y., Wang, L., Hawkins, R. D., & Kandel, E. R. (1996) · Science · doi:10.1126/science.274.5293.1678 · Cited by 1,550
Diagnostic exome sequencing in persons with severe intellectual disability
de Ligt, J., Willemsen, M. H., van Bon, B. W. M., Kleefstra, T., Yntema, H. G., Kroes, T., Vulto-van Silfhout, A. T., Koolen, D. A., de Vries, P., Gilissen, C., et al. (2012) · New England Journal of Medicine · doi:10.1056/nejmoa1206524 · Cited by 1,546
Self-citation
Cited by
Sorted by citations
Dendritic structural plasticity and neuropsychiatric disease
Forrest, M. P., Parnell, E., & Penzes, P. (2018) · Nature Reviews Neuroscience · doi:10.1038/nrn.2018.16 · Cited by 464
CaMKII: a central molecular organizer of synaptic plasticity, learning and memory
Yasuda, R., Hayashi, Y., & Hell, J. W. (2022) · Nature Reviews Neuroscience · doi:10.1038/s41583-022-00624-2 · Cited by 431
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Salpietro, V., Dixon, C. L., Guo, H., Bello, O. D., Vandrovcová, J., Efthymiou, S., Maroofian, R., Heimer, G., Bürglen, L., Valence, S., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10910-w · Cited by 252
Self-citationNicoll, R. A., & Schulman, H. (2023) · Physiological Reviews · doi:10.1152/physrev.00034.2022 · Cited by 126
“These in turn increase autophosphorylation of T286 (or T287 in some isoforms) that further increases constitutive activity (429, 430).”
BackgroundChemin, J., Siquier-Pernet, K., Nicouleau, M., Barcia, G., Ahmad, A., Medina-Cano, D., Hanein, S., Altin, N., Hubert, L., Bôle‐Feysot, C., et al. (2018) · Brain · doi:10.1093/brain/awy145 · Cited by 104
Hayashi, Y. (2022) · Neuroscience Research · doi:10.1016/j.neures.2021.08.001 · Cited by 102
The Role of Calmodulin in Tumor Cell Migration, Invasiveness, and Metastasis
Villalobo, A., & Berchtold, M. W. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21030765 · Cited by 101
Structural Insights into the Regulation of Ca2+/Calmodulin-Dependent Protein Kinase II (CaMKII)
Bhattacharyya, M., Karandur, D., & Kuriyan, J. (2020) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a035147 · Cited by 95
Liu, W., Liao, X., Yang, Y., Lin, H., Yeong, J. P.-S., Zhou, X., Shi, X., & Liu, J. (2022) · Nucleic Acids Research · doi:10.1093/nar/gkac219 · Cited by 95
Self-citationAutomated Clinical Exome Reanalysis Reveals Novel Diagnoses
Baker, S. W., Murrell, J. R., Nesbitt, A. I., Pechter, K. B., Balciuniene, J., Zhao, X., Yu, Z., Denenberg, E. H., DeChene, E. T., Wilkens, A., et al. (2018) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2018.07.008 · Cited by 88
Self-citationDe novo variants in CAMK 2A and CAMK 2B cause neurodevelopmental disorders
Akita, T., Aoto, K., Kato, M., Shiina, M., Mutoh, H., Nakashima, M., Kuki, I., Okazaki, S., Magara, S., Shiihara, T., et al. (2018) · Annals of Clinical and Translational Neurology · doi:10.1002/acn3.528 · Cited by 87
Ostrander, B., Butterfield, R. J., Pedersen, B. S., Farrell, A., Layer, R. M., Ward, A. N., Miller, C., DiSera, T., Filloux, F. M., Candee, M. S., et al. (2018) · npj Genomic Medicine · doi:10.1038/s41525-018-0061-8 · Cited by 86
CAMK2-Dependent Signaling in Neurons Is Essential for Survival
Kool, M. J., Onori, M. P., Borgesius, N. Z., van de Bree, J. E., Elgersma, M., Nio, E., Bezstarosti, K., Buitendijk, G. H. S., Jolfaei, M. A., Demmers, J., et al. (2019) · Journal of Neuroscience · doi:10.1523/jneurosci.1341-18.2019 · Cited by 79
Self-citationWang, Z.-J., Zhong, P., Ma, K., Seo, J.-S., Yang, F., Hu, Z., Zhang, F., Lin, L., Wang, J., Liu, T., et al. (2020) · Molecular Psychiatry · doi:10.1038/s41380-019-0351-2 · Cited by 82
Chia, P. H., Zhong, F. L., Niwa, S., Bonnard, C., Utami, K. H., Zeng, R., Lee, H., Eskin, A., Nelson, S. F., Xie, W. H., et al. (2018) · eLife · doi:10.7554/elife.32451 · Cited by 71
Li, J., Gao, K., Yan, H., XiangWei, W., Liu, N., Wang, T., Han, X., Lin, Z., Xie, H., Wang, J., et al. (2019) · Gene · doi:10.1016/j.gene.2019.03.037 · Cited by 70
Pandya, N. J., Wang, C., Costa, V., Lopatta, P., Meier, S., Zampeta, F. I., Punt, A. M., Mientjes, E., Grossen, P., Distler, T., et al. (2021) · Cell Reports Medicine · doi:10.1016/j.xcrm.2021.100360 · Cited by 71
Self-citationTakata, A., Nakashima, M., Saitsu, H., Mizuguchi, T., Mitsuhashi, S., Takahashi, Y., Okamoto, N., Osaka, H., Nakamura, K., Tohyama, J., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-10482-9 · Cited by 71
Schmitz‐Abe, K., Li, Q., Rosen, S. M., Nori, N., Madden, J. A., Genetti, C. A., Wojcik, M. H., Ponnaluri, S., Gubbels, C. S., Picker, J. D., et al. (2019) · European Journal of Human Genetics · doi:10.1038/s41431-019-0401-x · Cited by 68
Self-citationReuter, C. M., Kohler, J. N., Bonner, D. E., Zastrow, D. B., Fernández, L., Dries, A. M., Marwaha, S., Davidson, J. M., Brokamp, E., Herzog, M. R., et al. (2019) · Journal of Genetic Counseling · doi:10.1002/jgc4.1161 · Cited by 68
Self-citationThe neurodevelopmental spectrum of synaptic vesicle cycling disorders
John, A., Ng‐Cordell, E., Hanna, N., Brkić, D., & Baker, K. (2020) · Journal of Neurochemistry · doi:10.1111/jnc.15135 · Cited by 65
Intravenous immunoglobulin for the treatment of autoimmune encephalopathy in children with autism
Connery, K., Tippett, M., Delhey, L. M., Rose, S., Slattery, J. C., Kahler, S. G., Hahn, J., Kruger, U., Cunningham, M. W., Shimasaki, C., et al. (2018) · Translational Psychiatry · doi:10.1038/s41398-018-0214-7 · Cited by 64
Shimasaki, C., Frye, R. E., Trifiletti, R., Cooperstock, M., Kaplan, G., Melamed, I., Greenberg, R., Katz, A., Fier, E., Kem, D., et al. (2020) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2019.577138 · Cited by 61
Chronic administration of ketamine induces cognitive deterioration by restraining synaptic signaling
Luo, Y., Yang, Y., Zhang, M., He, H., & Fan, N. (2020) · Molecular Psychiatry · doi:10.1038/s41380-020-0793-6 · Cited by 62
Self-citationCaMKIIβ in Neuronal Development and Plasticity: An Emerging Candidate in Brain Diseases
Nicole, O., & Pacary, E. (2020) · International Journal of Molecular Sciences · doi:10.3390/ijms21197272 · Cited by 65
Flexible linkers in CaMKII control the balance between activating and inhibitory autophosphorylation
Bhattacharyya, M., Lee, Y. K., Muratcioglu, S., Qiu, B., Nyayapati, P., Schulman, H., Groves, J. T., & Kuriyan, J. (2020) · eLife · doi:10.7554/elife.53670 · Cited by 58
van Woerden, G. M., Bos, M., de Konink, C., Distel, B., Trezza, R. A., Shur, N. E., Baranano, K. W., Mahida, S., Chassevent, A., Schreiber, A., et al. (2021) · Human Mutation · doi:10.1002/humu.24176 · Cited by 54
Self-citationNeuronal L-Type Calcium Channel Signaling to the Nucleus Requires a Novel CaMKIIα-Shank3 Interaction
Perfitt, T. L., Wang, X., Dickerson, M. T., Stephenson, J. R., Nakagawa, T., Jacobson, D. A., & Colbran, R. J. (2020) · The Journal of Neuroscience · doi:10.1523/jneurosci.0893-19.2020 · Cited by 54
Roberts, J. A., Varma, V. R., An, Y., Varma, S., Candia, J., Fantoni, G., Tiwari, V., Anerillas, C., Williamson, A., Saito, A., et al. (2021) · Science Advances · doi:10.1126/sciadv.abi8178 · Cited by 49
Mohanan, A. G., Gunasekaran, S., Jacob, R. S., & Omkumar, R. V. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.855752 · Cited by 55
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
Mukherjee, S., Cogan, J. D., Newman, J. H., Phillips, J. A., Hamid, R., Undiagnosed Diseases Network, Meiler, J., & Capra, J. A. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.08.010 · Cited by 50
Serrano, G. E., Walker, J. E., Tremblay, C., Piras, I. S., Huentelman, M. J., Belden, C. M., Goldfarb, D., Shprecher, D., Atri, A., Adler, C. H., et al. (2022) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/nlac056 · Cited by 45
CaMKII enhances voltage-gated sodium channel Nav1.6 activity and neuronal excitability
Zybura, A., Baucum, A. J., Rush, A. M., Cummins, T., & Hudmon, A. (2020) · Journal of Biological Chemistry · doi:10.1074/jbc.ra120.014062 · Cited by 43
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing
Iwama, K., Mizuguchi, T., Takeshita, E., Nakagawa, E., Okazaki, T., Nomura, Y., Iijima, Y., Kajiura, I., Sugai, K., SAITO, T. K., et al. (2019) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2018-105775 · Cited by 40
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
Proietti Onori, M., Koopal, B., Everman, D. B., Worthington, J. D., Jones, J. R., Ploeg, M. A., Mientjes, E., van Bon, B. W., Kleefstra, T., Schulman, H., et al. (2018) · Human Mutation · doi:10.1002/humu.23647 · Cited by 39
Self-citationEbstein, F., Küry, S., Most, V., Rosenfelt, C., Scott-Boyer, M.-P., van Woerden, G. M., Besnard, T., Papendorf, J. J., Studencka-Turski, M., Wang, T., et al. (2023) · Science Translational Medicine · doi:10.1126/scitranslmed.abo3189 · Cited by 36
Self-citationRole of CAMK2D in neurodevelopment and associated conditions
Rigter, P. M. F., de Konink, C., Dunn, M. J., Onori, M. P., Humberson, J. B., Thomas, M., Barnes, C., Prada, C. E., Weaver, K. N., Ryan, T. D., et al. (2024) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2023.12.016 · Cited by 36
Self-citationBreakage of the oligomeric CaMKII hub by the regulatory segment of the kinase
Karandur, D., Bhattacharyya, M., Xia, Z., Lee, Y. K., Muratcioglu, S., McAffee, D., McSpadden, E. D., Qiu, B., Groves, J. T., Williams, E. R., et al. (2020) · eLife · doi:10.7554/elife.57784 · Cited by 35
APOE expression and secretion are modulated by mitochondrial dysfunction
Wynne, M. E., Ogunbona, O., Lane, A. R., Gokhale, A., Zlatic, S. A., Xu, C., Wen, Z., Duong, D. M., Rayaprolu, S., Ivanova, A., et al. (2023) · eLife · doi:10.7554/elife.85779 · Cited by 35
SCGN deficiency is a risk factor for autism spectrum disorder
Liu, Z., Tan, S., Zhou, L., Chen, L., Liu, M., Wang, W., Tang, Y., Yang, Q., Chi, S., Jiang, P., et al. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-022-01225-2 · Cited by 34
Kinase Signaling in Dendritic Development and Disease
Nourbakhsh, K., & Yadav, S. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.624648 · Cited by 31
Molecular Mechanisms of AMPA Receptor Trafficking in the Nervous System
Cao, Y., Ling-Ling, W., Li, X., Yuan, Y.-L., Zhao, W., Qi, J., Zhao, X.-Y., Ward, N., & Wang, J. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms25010111 · Cited by 36
Zheng, Q., Zhang, H., Zhao, H., Chen, Y., Yang, H., Li, T., Cai, Q., Chen, Y., Wang, Y., Zhang, M., et al. (2024) · Molecular Cell · doi:10.1016/j.molcel.2024.12.005 · Cited by 32
Muraleva, N. A., Kolosova, N. G., & Stefanova, N. A. (2019) · Experimental Gerontology · doi:10.1016/j.exger.2019.01.017 · Cited by 29
Wu, L.-Y., Zeeshan, M., Dang, Y., Zhang, Y., Liang, L.-X., Huang, J.-W., Zhou, J.-X., Guo, L.-H., Fan, Y.-Y., Sun, M.-K., et al. (2023) · The Science of The Total Environment · doi:10.1016/j.scitotenv.2023.164838 · Cited by 27
Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders
Onori, M. P., & van Woerden, G. M. (2021) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2021.03.014 · Cited by 30
CAMK2N1 suppresses hepatoma growth through inhibiting E2F1-mediated cell-cycle signaling
Peng, J., Tseng, R.-H., Shih, T., & Hsieh, S. (2020) · Cancer Letters · doi:10.1016/j.canlet.2020.10.017 · Cited by 25
Genome-Wide Association Analysis of Growth Traits in Hu Sheep
Li, T., Feng, X., Zhang, N., Chen, J., Zhang, Y., Yang, H., Peng, S., Ma, R., Liu, Q., Gan, S., et al. (2024) · Genes · doi:10.3390/genes15121637 · Cited by 24
Gene constraint and genotype–phenotype correlations in neurodevelopmental disorders
Betancur, C., & Buxbaum, J. D. (2020) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2020.05.036 · Cited by 24
Pizzo, L., Lasser, M. C., Yusuff, T., Jensen, M., Ingraham, P., Huber, E., Singh, M. D., Monahan, C., Iyer, J. S., Desai, I., et al. (2021) · PLoS Genetics · doi:10.1371/journal.pgen.1009112 · Cited by 25
Dzinovic, I., Winkelmann, J., & Zech, M. (2022) · Parkinsonism & Related Disorders · doi:10.1016/j.parkreldis.2022.08.019 · Cited by 24
Zhen, H., Deng, H., Song, Q., Zheng, M., Yuan, Z., Cao, Z., Pang, Q., & Zhao, B. (2020) · The FASEB Journal · doi:10.1096/fj.201903040rr · Cited by 22
The benefit of diagnostic whole genome sequencing in schizophrenia and other psychotic disorders
Alkelai, A., Greenbaum, L., Docherty, A. R., Shabalin, A. A., Povysil, G., Malakar, A., Hughes, D., Delaney, S. L., Peabody, E. P., McNamara, J., et al. (2021) · Molecular Psychiatry · doi:10.1038/s41380-021-01383-9 · Cited by 22
Zech, M., Lam, D. D., Weber, S., Berutti, R., Poláková, K., Havránková, P., Fečíková, A., Strom, T. M., Růžička, E., Jech, R., et al. (2018) · Molecular Case Studies · doi:10.1101/mcs.a003293 · Cited by 24
Lee, Y., Hwang, S., Lee, S., Yang, J.-E., Kwak, J., Seo, H., Ahn, H. M., Lee, Y., Kim, J., Lim, C., et al. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9061886 · Cited by 21
MicroRNA Expression Profiles in Autism Spectrum Disorder: Role for miR-181 in Immunomodulation
Frye, R. E., Rose, S., McCullough, S. S., Bennuri, S. C., Porter-Gill, P. A., Dweep, H., & Gill, P. S. (2021) · Journal of Personalized Medicine · doi:10.3390/jpm11090922 · Cited by 22
Characterization of six CaMKIIα variants found in patients with schizophrenia
Brown, C. N., Cook, S. G., Allen, H. F., Crosby, K. C., Singh, T., Coultrap, S. J., & Bayer, K. U. (2021) · iScience · doi:10.1016/j.isci.2021.103184 · Cited by 29
HDAC3 of dorsal hippocampus induces postoperative cognitive dysfunction in aged mice
Li, Y., Hao, J., Gao, Y., Yang, X., Shen, X., Wang, H.-Y., Sun, N., & Gao, C. (2022) · Behavioural Brain Research · doi:10.1016/j.bbr.2022.114002 · Cited by 21
Rudolf, G., de Bellescize, J., Martin, A. D. S., Arzimanoglou, A. A., Hirsch, M. P. V., Labalme, A., Boulay, C., Simonet, T., Boland, A., Deleuze, J., et al. (2020) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2020.05.003 · Cited by 21
Self-citationA method to delineate de novo missense variants across pathways prioritizes genes linked to autism
Koire, A. M., Buchovecky, C., Katsonis, P., Kim, Y. W., Wilson, S. J., & Lichtarge, O. (2021) · Science Translational Medicine · doi:10.1126/scitranslmed.abc1739 · Cited by 22
Mechanisms of sleep and circadian ontogeny through the lens of neurodevelopmental disorders
Barone, I., Hawks-Mayer, H., & Lipton, J. O. (2019) · Neurobiology of Learning and Memory · doi:10.1016/j.nlm.2019.01.011 · Cited by 22
Pellikaan, K., van Woerden, G. M., Kleinendorst, L., Rosenberg, A. G. W., Horsthemke, B., Grosser, C., van Zutven, L. J. C. M., van Rossum, E. F. C., van der Lely, A. J., Resnick, J. L., et al. (2021) · Genes · doi:10.3390/genes12060875 · Cited by 19
RhoGEF Trio Regulates Radial Migration of Projection Neurons via Its Distinct Domains
Wei, C., Sun, M., Sun, X., Meng, H., Li, Q., Gao, K., Yue, W., Wang, L., Zhang, D., & Li, J. (2021) · Neuroscience Bulletin · doi:10.1007/s12264-021-00804-7 · Cited by 17
Rizzi, S., Spagnoli, C., Salerno, G. G., Frattini, D., Caraffi, S. G., Trimarchi, G., Moratti, C., Pascarella, R., Garavelli, L., & Fusco, C. (2020) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.61803 · Cited by 19
Altered Cerebellar Response to Somatosensory Stimuli in the Cntnap2 Mouse Model of Autism
Fernández, M. C., Sánchez-León, C. A., Llorente, J., Sierra-Arregui, T., Knafo, S., Márquez‐Ruiz, J., & Peñagarikano, O. (2021) · eNeuro · doi:10.1523/eneuro.0333-21.2021 · Cited by 21
Tian, Y., Shehata, M. A., Gauger, S. J., Veronesi, C., Hamborg, L., Thiesen, L., Bruus‐Jensen, J., Royssen, J. S., Leurs, U., Larsen, A. S. G., et al. (2022) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.2c00805 · Cited by 17
Rosenberg, A. G. W., Pater, M. R. A., Pellikaan, K., Davidse, K., Kattentidt‐Mouravieva, A. A., Kersseboom, R., Bos‐Roubos, A. G., van Eeghen, A. M., Veen-Roelofs, J. M. C., van der Meulen, J. J., et al. (2021) · Journal of Clinical Medicine · doi:10.3390/jcm10225457 · Cited by 19
Fernandes‐Junior, S. A., Oliveira, L. M., Czeisler, C. M., Mo, X. M., Roy, S., Somogyi, Á., Zhang, L., Moreira, T. S., Otero, J. J., & Takakura, A. C. T. (2020) · Brain Pathology · doi:10.1111/bpa.12868 · Cited by 17
Medyanik, A. D., Anisimova, P. E., Kustova, A. O., Tarabykin, V. S., & Kondakova, E. V. (2025) · Biomolecules · doi:10.3390/biom15010133 · Cited by 17
Gold, N. B., Li, D., Chassevent, A., Kaiser, F. J., Parenti, I., Strom, T. M., Ramos, F. J., Puisac, B., Pié, J., McWalter, K. M., et al. (2020) · Clinical Genetics · doi:10.1111/cge.13851 · Cited by 15
Self-citationGavrilovici, C., Jiang, Y., Kiroski, I., Sterley, T.-L., Vandal, M., Bains, J. S., Park, S. K., Rho, J. M., Teskey, G. C., & Nguyen, M. D. (2021) · Cerebral Cortex Communications · doi:10.1093/texcom/tgaa096 · Cited by 15
Sim, K. H., & Lee, Y. J. (2021) · Chemosphere · doi:10.1016/j.chemosphere.2021.132503 · Cited by 15
Dwyer, B. K., Veenma, D. C. M., Chang, K., Schulman, H., & van Woerden, G. M. (2022) · Frontiers in Pharmacology · doi:10.3389/fphar.2022.794008 · Cited by 15
Olfactory Bulb and Amygdala Gene Expression Changes in Subjects Dying with COVID-19Preprint
Piras, I. S., Huentelman, M. J., Walker, J. E., Arce, R. A., Glass, M. J., Vargas, D., Sue, L. I., Intorcia, A. J., Nelson, C. M., Suszczewicz, K. E., et al. (2021) · medRxiv · doi:10.1101/2021.09.12.21263291 · Cited by 16
Zheng, J. J., Zhang, W., Liu, L., & Yap, M. K. H. (2023) · Frontiers in Neuroscience · doi:10.3389/fnins.2023.1109735 · Cited by 14
A human in vitro neuronal model for studying homeostatic plasticity at the network level
Yuan, X., Puvogel, S., van Rhijn, J.-R., Ciptasari, U., Esteve‐Codina, A., Meijer, M., Rouschop, S., van Hugte, E., Oudakker, A. R., Schoenmaker, C., et al. (2023) · Stem Cell Reports · doi:10.1016/j.stemcr.2023.09.011 · Cited by 16
Murano, T., Nakajima, R., Nakao, A., Hirata, N., Amemori, S., Murakami, A., Kamitani, Y., Yamamoto, J., & Miyakawa, T. (2022) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.2106830119 · Cited by 13
Cellular Models and High-Throughput Screening for Genetic Causality of Intellectual Disability
Fell, C. W., & Nagy, V. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2020.12.003 · Cited by 14
Tian, Y., Shehata, M. A., Gauger, S. J., Ng, C. K. L., Solbak, S. M. Ø., Thiesen, L., Bruus‐Jensen, J., Krall, J., Bundgaard, C., Gibson, K. M., et al. (2022) · Journal of Medicinal Chemistry · doi:10.1021/acs.jmedchem.1c02177 · Cited by 14
Borghi, R., Trivisano, M., Specchio, N., Tartaglia, M., & Compagnucci, C. (2023) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2023.105299 · Cited by 13
Zsolnai, A., Csókás, A., Szabó, L., Patkó, L., Csányi, S., Márton, M., Lakatos, E. A., Anton, I., Deutsch, F., & Heltai, M. (2022) · Mammalian Biology · doi:10.1007/s42991-021-00212-4 · Cited by 13
Netrin‐G2 dysfunction causes a Rett‐like phenotype with areflexia
Heimer, G., van Woerden, G. M., Barel, O., Marek‐Yagel, D., Kol, N., Munting, J. B., Borghei, M., Atawneh, O., Nissenkorn, A., Rechavi, G., et al. (2019) · Human Mutation · doi:10.1002/humu.23945 · Cited by 10
Self-citationKim, K.-R., Jeong, H., Kim, Y., Lee, S. Y., Kim, Y., Kim, H.-J., Lee, S., Cho, H., Kang, J.-S., & Ho, W. (2021) · Experimental & Molecular Medicine · doi:10.1038/s12276-021-00645-4 · Cited by 12
Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents
Lee, L., Su, M., Huang, H.-Y., Cho, Y., Yeh, T., & Chang, C. (2021) · Molecular Brain · doi:10.1186/s13041-021-00858-8 · Cited by 11
Molecular Diagnostic Outcomes from 700 Cases
Murrell, J. R., Nesbitt, A. M. I., Baker, S. W., Pechter, K. B., Balciuniene, J., Zhao, X., Denenberg, E. H., DeChene, E. T., Wu, C., Jayaraman, P., et al. (2022) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2021.12.002 · Cited by 11
Self-citationFeatherstone, R. E., Shimada, T., Crown, L. M., Melnychenko, O., Yi, J., Matsumoto, M., Tajinda, K., Mihara, T., Adachi, M., & Siegel, S. J. (2022) · Neuroscience · doi:10.1016/j.neuroscience.2022.07.023 · Cited by 19
Liu, S., Lian, M., Fang, J., Zhai, J., Shen, X., & Wang, R. (2018) · Europe PMC (PubMed Central) · Cited by 10
Lecoquierre, F., Punt, A. M., Ebstein, F., Wallaard, I., Verhagen, R. F. M., Studencka‐Turski, M., Duffourd, Y., Moutton, S., Mau-Them, F. T., Philippe, C., et al. (2024) · Genetics in Medicine · doi:10.1016/j.gim.2024.101119 · Cited by 9
Self-citationFujii, H., Kidokoro, H., Kondo, Y., Kawaguchi, M., Horigane, S., Natsume, J., Takemoto‐Kimura, S., & Bito, H. (2022) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2022.970031 · Cited by 8
Rigter, P. M. F., Wallaard, I., Jolfaei, M. A., Kingma, J., Post, L. C., Elgersma, M., Elgersma, Y., & van Woerden, G. M. (2022) · iScience · doi:10.1016/j.isci.2022.105303 · Cited by 10
Self-citationKong, L., Yang, H., Yang, J., Jiang, L., Xu, B., Yang, T., & Liu, W. (2025) · Ecotoxicology and Environmental Safety · doi:10.1016/j.ecoenv.2025.117835 · Cited by 9
Chang, W.-L., Tegang, K., Samuels, B. A., Saxe, M., Wichmann, J., David, D. J. P., Mendez‐David, I., Augustin, A., Fischer, H., Golling, S., et al. (2024) · Biological Psychiatry Global Open Science · doi:10.1016/j.bpsgos.2024.100419 · Cited by 10
Conformational spread drives the evolution of the calcium–calmodulin protein kinase II
Khan, S. (2022) · Scientific Reports · doi:10.1038/s41598-022-12090-y · Cited by 8
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy
Sakamoto, M., Iwama, K., Sasaki, M., Ishiyama, A., Komaki, H., SAITO, T. K., Takeshita, E., Shimizu‐Motohashi, Y., Haginoya, K., Kobayashi, T., et al. (2022) · Genetics in Medicine · doi:10.1016/j.gim.2022.08.007 · Cited by 8
Malik, M. A., Saqib, M. A. N., Mientjes, E., Acharya, A., Alam, M. R., Wallaard, I., Schrauwen, I., Bamshad, M. J., Santos‐Cortez, R. L. P., Elgersma, Y., et al. (2023) · European Journal of Human Genetics · doi:10.1038/s41431-023-01475-w · Cited by 8
Self-citationConformational coupling by trans-phosphorylation in calcium calmodulin dependent kinase II
Pandini, A., Schulman, H., & Khan, S. (2019) · PLoS Computational Biology · doi:10.1371/journal.pcbi.1006796 · Cited by 7
A familial case of CAMK2B mutation with variable expressivity
Heiman, P., Drewes, S., & Ghaloul‐Gonzalez, L. (2021) · SAGE Open Medical Case Reports · doi:10.1177/2050313x21990982 · Cited by 8
Luo, Y., Yang, Y., Zhang, M., & Fan, N. (2022) · Journal of Neuroimmunology · doi:10.1016/j.jneuroim.2022.577998 · Cited by 7
Self-citation
Metadata
- Authors
- Küry, S., van Woerden, G. M., Besnard, T., Proietti Onori, M., Latypova, X., Towne, M. C., Cho, M. T., Prescott, T. E., Ploeg, M. A., Sanders, S., Stessman, H. A. F., Pujol, A., Distel, B., Robak, L. A., Bernstein, J. A., Denommé-Pichon, A.-S., Lesca, G., Sellars, E. A., Berg, J., Carré, W., Busk, Ø. L., van Bon, B. W. M., Waugh, J. L., Deardorff, M., Hoganson, G. E., Bosanko, K. B., Johnson, D. S., Dabir, T., Holla, Ø. L., Sarkar, A., Tveten, K., de Bellescize, J., Braathen, G. J., Terhal, P. A., Grange, D. K., van Haeringen, A., Lam, C., Mirzaa, G., Burton, J., Bhoj, E. J., Douglas, J., Santani, A. B., Nesbitt, A. I., Helbig, K. L., Andrews, M. V., Begtrup, A., Tang, S., van Gassen, K. L. I., Juusola, J., Foss, K., Enns, G. M., Moog, U., Hinderhofer, K., Paramasivam, N., Lincoln, S., Kusako, B. H., Lindenbaum, P., Charpentier, E., Nowak, C. B., Cherot, E., Simonet, T., Ruivenkamp, C. A. L., Hahn, S., Brownstein, C. A., Xia, F., Schmitt, S., Deb, W., Bonneau, D., Nizon, M., Quinquis, D., Chelly, J., Rudolf, G., Sanlaville, D., Parent, P., Gilbert-Dussardier, B., Toutain, A., Sutton, V. R., Thies, J., Peart-Vissers, L. E. L. M., Boisseau, P., Vincent, M., Grabrucker, A. M., Dubourg, C., Tan, W.-H., Verbeek, N. E., Granzow, M., Santen, G. W. E., Shendure, J., Isidor, B., Pasquier, L., Redon, R., Yang, Y., State, M. W., Kleefstra, T., Cogné, B., Petrovski, S., Retterer, K., Eichler, E. E., Rosenfeld, J. A., Agrawal, P. B., Bézieau, S., Odent, S., Elgersma, Y., & Mercier, S.
- Affiliations
- Centre Hospitalier Universitaire de Nantes (FR)
- Erasmus MC (NL)
- Boston Children's Hospital (US)
- Telemark Hospital (NO)
- University of California, San Francisco (US)
- Creighton University (US)
- Institució Catalana de Recerca i Estudis Avançats (ES)
- Baylor College of Medicine (US)
- Stanford Medicine (US)
- Centre National de la Recherche Scientifique (FR)
- Arkansas Children's Hospital (US)
- University of Dundee (GB)
- Centre Hospitalier Universitaire de Rennes (FR)
- Radboud University Nijmegen (NL)
- Children's Hospital of Philadelphia (US)
- University of Illinois Chicago (US)
- Sheffield Children's Hospital (GB)
- Belfast Health and Social Care Trust (GB)
- Nottingham University Hospitals NHS Trust (GB)
- Hospices Civils de Lyon (FR)
- University Medical Center Utrecht (NL)
- Washington University in St. Louis (US)
- Leiden University Medical Center (NL)
- Seattle Children's Hospital (US)
- Ambry Genetics (United States) (US)
- Seattle Children's Research Institute (US)
- Heidelberg University (DE)
- German Cancer Research Center (DE)
- Centre Hospitalier Régional Universitaire de Brest (FR)
- Centre Hospitalier Universitaire de Tours (FR)
- Baylor Genetics (US)
- University of Limerick (IE)
- Howard Hughes Medical Institute (US)
- The Royal Melbourne Hospital (AU)
- Corresponding author
- Küry, Sébastien
- Elgersma, Ype
- ORCID
- Küry, Sébastien
- van Woerden, Geeske M.
- Besnard, Thomas
- Latypova, Xénia
- Towne, Meghan C.
- Cho, Megan T.
- Prescott, Trine E.
- Sanders, Stephan
- Stessman, Holly A.F.
- Pujol, Aurora
- Distel, Ben
- Robak, Laurie A.
- Bernstein, Jonathan A.
- Lesca, Gaëtan
- Sellars, Elizabeth A.
- Berg, Jonathan
- Carré, Wilfrid
- Busk, Øyvind Løvold
- van Bon, Bregje W.M.
- Waugh, Jeff L.
- Deardorff, Matthew
- Johnson, Diana S.
- Holla, Øystein Lunde
- Tveten, Kristian
- de Bellescize, Julitta
- Braathen, Geir J.
- Terhal, Paulien A.
- Grange, Dorothy K.
- van Haeringen, Arie
- Lam, Christina
- Mirzaa, Ghayda
- Bhoj, Elizabeth J.
- Santani, Avni B.
- Nesbitt, Addie I.
- Helbig, Katherine L.
- Andrews, Marisa V.
- Begtrup, Amber
- Tang, Sha
- van Gassen, Koen L.I.
- Juusola, Jane
- Foss, Kimberly
- Enns, Gregory M.
- Moog, Ute
- Hinderhofer, Katrin
- Paramasivam, Nagarajan
- Lindenbaum, Pierre
- Ruivenkamp, Claudia A.L.
- Xia, Fan
- Schmitt, Sébastien
- Deb, Wallid
- Bonneau, Dominique
- Nizon, Mathilde
- Chelly, Jamel
- Rudolf, Gabrielle
- Sanlaville, Damien
- Toutain, Annick
- Sutton, Vernon R.
- Thies, Jenny
- Vincent, Marie
- Grabrucker, Andreas M.
- Dubourg, Christèle
- Tan, Wen-Hann
- Santen, Gijs W.E.
- Shendure, Jay
- Isidor, Bertrand
- Pasquier, Laurent
- Redon, Richard
- Yang, Yaping
- State, Matthew W.
- Kleefstra, Tjitske
- Cogné, Benjamin
- Petrovski, Slavé
- Retterer, Kyle
- Eichler, Evan E.
- Rosenfeld, Jill A.
- Agrawal, Pankaj B.
- Odent, Sylvie
- Elgersma, Ype
- Mercier, Sandra
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2017-11
- Volume
- 101
- Issue
- 5
- Pages
- 768-788
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC5673671
- OpenAlex
- W2766852890
- Cited by
- 185
- References
- 78
- Citations by year
- 2026: 15 · 2025: 22 · 2024: 25 · 2023: 18 · 2022: 29 · 2021: 29 · 2020: 21 · 2019: 15 · 2018: 11
- FWCI
- 8.53
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Leiden Repository (Leiden University) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- HAL (submittedVersion)
- Discovery Research Portal (University of Dundee) (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
- eScholarship (California Digital Library) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Utrecht University Repository (Utrecht University) (submittedVersion)
- Funders
- National Institute of Mental Health (R01MH101221)
- National Institute of Neurological Disorders and Stroke (K08NS092898)
- National Institute of Arthritis and Musculoskeletal and Skin Diseases (R01AR068429)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD077671)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Down syndrome and intellectual disability research
- Keywords
- CAMK2A, CAMK2B, calcium/calmodulin-dependent protein kinase II, de novo mutations, intellectual disability, autophosphorylation, neuronal migration, brain development, glutamatergic signaling, synaptic plasticity, rare variants
- MeSH terms
- Animals, Brain, Cell Line, Female, Humans, Male, Intellectual Disability, Mice, Inbred C57BL, Mutation, Neurons, Phosphorylation, Signal Transduction, Glutamic Acid, Mice, Calcium-Calmodulin-Dependent Protein Kinase Type 2, HEK293 Cells, Exome
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
