{"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":"[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=&#8221;Publicaties CAMK2 Syndroom&#8221; tab_id=&#8221;1588325715276-80d12435-d6f0&#8243;][vc_column_text]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>[\/vc_column_text][\/vc_tta_section][\/vc_tta_accordion][\/vc_column][\/vc_row]","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_tta_accordion][vc_tta_section title=&#8221;Publicaties CAMK2 Syndroom&#8221; tab_id=&#8221;1588325715276-80d12435-d6f0&#8243;][vc_column_text]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. [&hellip;]<\/p>","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}]}}