CAMK2 Syndroom

Rigter PMF, (2024) Role of CAMK2D in neurodevelopment and associated conditions. Am J Hum Genet. Pubmed

Rigter PMF, de Konink C, van Woerden GM. (2023). Loss of CAMK2G affects intrinsic and motor behavior but has minimal impact on cognitive behavior. Front Neurosci. Jan 6;16:1086994. Pubmed

Rigter PMF, (2022) Adult Camk2a gene reinstatement restores the learning and plasticity deficits of Camk2a knockout mice. Pubmed

Dwyer BK, (2022) Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p.Glu110Lys) Front Pharmacol. 10;13:794008 Pubmed

Onori MP & van Woerden GM. (2021) Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders. Brain Res Bull. S0361-9230(21)00090-3 Pubmed

Moro A, (2020) CaMKll controls neuromodulation via neuropeptide gene expression and axonal targeting of neuropeptide vesicles. PLoS Biol. Pubmed

Kool MJ, et al. (2019) CAMK2-dependent signaling in neurons is essential for survival. J Neurosci. 39; 5424–39. Pubmed

Vargas JY, et al. (2019) The Wnt/Ca 2+ pathway is involved in interneuronal communication mediated by tunneling nanotubes. EMBO J. Pubmed

Onori MP, et al. (2018) The intellectual disability-associated CAMK2G p.Arg292Pro mutation acts as a pathogenic gain-of-function. Hum Mutat. 39; 2008–24. Pubmed

Küry S, et al. (2017) De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability. Am J Hum Genet. 101; 768–88. Pubmed

Kool MJ, (2016) The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse locomotion. Sci Rep. Pubmed

Achterberg KG, et al. (2014) Temporal and region-specific requirements of αCaMKII in spatial and contextual learning. J Neurosci. 34; 11180–7. Pubmed

Woerden G, (2009) betaCaMKll controls the direction of plasticity at parallel fiber-Purkinje cell synapses. Nat Neurosci. 12(7); 823-5. Pubmed

Hojjati M, (2007) Kinase activity is not required for alphaCaMKll-dependent presynaptic plasticity at CA3-CA1 synapses. Nat Neurosci. 10(9); 1125-7. Pubmed

Hansel C, (2006) alphaCaMKll is essential for cerebellar LTD and motor learning. Neuron. 51(6); 835-43. Pubmed

Elgersma Y, (2004) Mouse genetic approaches to investigating calcium/calmodulin-dependent protein kinase ll function in plasticity and cognition. J Neurosci. 24(39); 8410-5. Pubmed

Elgersma Y, (2002) Inhibitory autophosphorylation of CaMKll controls PSD association, plasticity and learning. Neuron. 36(3); 493-505. Pubmed