{"id":4400,"date":"2020-10-31T13:14:30","date_gmt":"2020-10-31T12:14:30","guid":{"rendered":"https:\/\/encore-expertisecentrum.nl\/?page_id=4400"},"modified":"2025-12-12T16:57:12","modified_gmt":"2025-12-12T15:57:12","slug":"camk2","status":"publish","type":"page","link":"https:\/\/encore-expertisecentrum.nl\/en\/publications\/camk2\/","title":{"rendered":"CAMK2 Syndrome"},"content":{"rendered":"<div class=\"vc_row wpb_row vc_row-fluid\"><div class=\"\"  ><div class=\"wpb_column vc_column_container vc_col-sm-12\"><div class=\"vc_column-inner\"><div class=\"wpb_wrapper\"><div class=\"vc_tta-container\" data-vc-action=\"collapse\"><div class=\"vc_general vc_tta vc_tta-accordion vc_tta-color-grey vc_tta-style-classic vc_tta-shape-rounded vc_tta-o-shape-group vc_tta-controls-align-left\"><div class=\"vc_tta-panels-container\"><div class=\"vc_tta-panels\"><div class=\"vc_tta-panel vc_active\" id=\"1588325715276-80d12435-d6f0\" data-vc-content=\".vc_tta-panel-body\"><div class=\"vc_tta-panel-heading\"><h4 class=\"vc_tta-panel-title vc_tta-controls-icon-position-left\"><a href=\"#1588325715276-80d12435-d6f0\" data-vc-accordion data-vc-container=\".vc_tta-container\"><span class=\"vc_tta-title-text\">Publicaties CAMK2 Syndroom<\/span><i class=\"vc_tta-controls-icon vc_tta-controls-icon-plus\"><\/i><\/a><\/h4><\/div><div class=\"vc_tta-panel-body\">\n\t<div class=\"wpb_text_column wpb_content_element\" >\n\t\t<div class=\"wpb_wrapper\">\n\t\t\t<p>Gauger SJ, et al. (2024) <strong><span class=\"notion-enable-hover\" data-token-index=\"1\">CaMKII\u03b1 hub ligands are unable to reverse known phenotypes in Angelman syndrome mice.\u00a0<\/span><\/strong><em><span class=\"notion-enable-hover\" data-token-index=\"2\">Basic Clin Pharmacol Toxicol<\/span>.<\/em> <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39668309\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/p>\n<p>Cheung JS, et al. (2024) <strong><span class=\"notion-enable-hover\" data-token-index=\"6\">CAMK2; four genes, one syndrome? Delineation of genotype-phenotype correlations.\u00a0<\/span><\/strong><em><span class=\"notion-enable-hover\" data-token-index=\"7\">Curr Opin Neurobiol<\/span>.<\/em> <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39631163\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/p>\n<p>Rigter PMF, et.al. (2024) <strong>Role of CAMK2D in neurodevelopment and associated conditions.<\/strong> <em>Am J Hum Genet. <\/em><span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/38272033\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>Rigter PMF, de Konink C, van Woerden GM. (2023). <strong>Loss of CAMK2G affects intrinsic and motor behavior but has minimal impact on cognitive behavior.<\/strong> <em>Front Neurosci.<\/em> Jan 6;16:1086994. <span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36685241\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>Rigter PMF, et.al. (2022) <strong>Adult <em>Camk2a<\/em> gene reinstatement restores the learning and plasticity deficits of <em>Camk2a<\/em> knockout mice. <\/strong><span style=\"text-decoration: underline;\"> <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/36304100\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>Dwyer BK, et.al. (2022) <strong>Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a <em>de novo<\/em> Mutation in the <em>CAMK2B<\/em> Gene (c.328G&gt;A p.Glu110Lys) <\/strong><em>Front Pharmacol.<\/em> 10;13:794008 <span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/35620293\/\">Pubmed<\/a><\/span><\/p>\n<p>Onori MP &amp; van Woerden GM. (2021) <strong>Role of calcium\/calmodulin-dependent kinase 2 in neurodevelopmental disorders. <\/strong><em>Brain Res Bull. <\/em>S0361-9230(21)00090-3 <span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/33774142\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>Moro A, <em>et.al.<\/em> (2020) <strong>CaMKll controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles. <\/strong><em>PLoS Biol.\u00a0<\/em><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32776935\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Kool MJ, <em>et al.<\/em> (2019) <strong>CAMK2-dependent signaling in neurons is essential for survival.<\/strong> <em>J Neurosci<\/em>. 39; 5424\u201339. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31064859\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Vargas JY, <em>et al.<\/em> (2019) <strong>The Wnt\/Ca 2+ pathway is involved in interneuronal communication mediated by tunneling nanotubes<em>.<\/em><\/strong> <em>EMBO J<\/em>. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/31625188\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Onori MP, <em>et al.<\/em> (2018) <strong>The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function.<\/strong> <em>Hum Mutat.<\/em> 39; 2008\u201324. <span style=\"text-decoration: underline;\"><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/30184290\/\" target=\"_blank\" rel=\"noopener noreferrer\">Pubmed<\/a><\/span><\/p>\n<p>K\u00fcry S, <em>et al.<\/em> (2017) <strong>De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.<\/strong> <em>Am J Hum Genet.<\/em> 101; 768\u201388.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/29100089\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Kool MJ, <em>et.al. <\/em>(2016) <strong>The molecular, temporal and region-specific requirements of the beta isoform of Calcium\/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion.<\/strong> <em>Sci Rep. <\/em><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/27244486\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Achterberg KG, <em>et al.<\/em> (2014) <strong>Temporal and region-specific requirements of \u03b1CaMKII in spatial and contextual learning.<\/strong> <em>J Neurosci.<\/em> 34; 11180\u20137.\u00a0<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/25143599\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Woerden G, <em>et.al.<\/em> (2009) <strong>betaCaMKll<\/strong> <strong>controls the direction of plasticity at parallel fiber-Purkinje cell synapses. <\/strong><em>Nat Neurosci. <\/em>12(7); 823-5. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/19503086\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Hojjati M, <em>et.al.<\/em> (2007) <strong>Kinase activity is not required for alphaCaMKll-dependent presynaptic plasticity at CA3-CA1 synapses. <\/strong><em>Nat Neurosci. <\/em>10(9); 1125-7. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/17660813\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Hansel C, <em>et.al.<\/em> (2006) <strong>alphaCaMKll is essential for cerebellar LTD and motor learning. <\/strong><em>Neuron. <\/em>51(6); 835-43. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/16982427\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Elgersma Y, <em>et.al. <\/em>(2004) <strong>Mouse genetic approaches to investigating calcium\/calmodulin-dependent protein kinase ll function in plasticity and cognition. <\/strong><em>J Neurosci. <\/em>24(39); 8410-5. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/15456813\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n<p>Elgersma Y, <em>et.al. <\/em>(2002) <strong>Inhibitory autophosphorylation of CaMKll controls PSD association, plasticity and learning. <\/strong><em>Neuron. <\/em>36(3); 493-505. <a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/12408851\/\" target=\"_blank\" rel=\"noopener noreferrer\"><span style=\"text-decoration: underline;\">Pubmed<\/span><\/a><\/p>\n\n\t\t<\/div>\n\t<\/div>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div>","protected":false},"excerpt":{"rendered":"Publicaties CAMK2 Syndroom Gauger SJ, et al. (2024) CaMKII\u03b1 hub ligands are unable to reverse known phenotypes in Angelman syndrome mice.\u00a0Basic Clin Pharmacol Toxicol. Pubmed Cheung JS, et al. (2024) CAMK2; four genes, one syndrome? Delineation of genotype-phenotype correlations.\u00a0Curr Opin Neurobiol. Pubmed Rigter PMF, et.al. (2024) Role of CAMK2D in neurodevelopment and associated conditions. Am [...]","protected":false},"author":1,"featured_media":0,"parent":3957,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4400"}],"collection":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/comments?post=4400"}],"version-history":[{"count":11,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4400\/revisions"}],"predecessor-version":[{"id":5307,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/4400\/revisions\/5307"}],"up":[{"embeddable":true,"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/pages\/3957"}],"wp:attachment":[{"href":"https:\/\/encore-expertisecentrum.nl\/en\/wp-json\/wp\/v2\/media?parent=4400"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}