[HTML][HTML] Loss of CAMK2G affects intrinsic and motor behavior but has minimal impact on cognitive behavior

PMF Rigter, C de Konink… - Frontiers in Neuroscience, 2023 - frontiersin.org
Introduction The gamma subunit of calcium/calmodulin-dependent protein kinase 2
(CAMK2G) is expressed throughout the brain and is associated with neurodevelopmental …

CAMK2-dependent signaling in neurons is essential for survival

MJ Kool, MP Onori, NZ Borgesius… - Journal of …, 2019 - Soc Neuroscience
Ca2+/calmodulin-dependent protein kinase II (CAMK2) is a key player in synaptic plasticity
and memory formation. Mutations in Camk2a or Camk2b cause intellectual disability in …

[HTML][HTML] Adult Camk2a gene reinstatement restores the learning and plasticity deficits of Camk2a knockout mice

PMF Rigter, I Wallaard, MA Jolfaei, J Kingma, L Post… - Iscience, 2022 - cell.com
With the recent findings that mutations in the gene encoding the α-subunit of
calcium/calmodulin-dependent protein kinase II (CAMK2A) causes a neurodevelopmental …

[HTML][HTML] The molecular, temporal and region-specific requirements of the beta isoform of Calcium/Calmodulin-dependent protein kinase type 2 (CAMK2B) in mouse …

MJ Kool, JE Van De Bree, HE Bodde, Y Elgersma… - Scientific Reports, 2016 - nature.com
Genetic approaches using temporal and brain region-specific restricted gene deletions have
provided a wealth of insight in the brain regions and temporal aspects underlying spatial …

[HTML][HTML] A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability

PH Chia, FL Zhong, S Niwa, C Bonnard, KH Utami… - Elife, 2018 - elifesciences.org
Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in
synaptic plasticity that underlies learning and memory. Here, we describe a new recessive …

Role of CAMK2D in neurodevelopment and associated conditions

PMF Rigter, C de Konink, MJ Dunn, MP Onori… - The American Journal of …, 2024 - cell.com
The calcium/calmodulin-dependent protein kinase type 2 (CAMK2) family consists of four
different isozymes, encoded by four different genes—CAMK2A, CAMK2B, CAMK2G, and …

The intellectual disability‐associated CAMK2G p. Arg292Pro mutation acts as a pathogenic gain‐of‐function

M Proietti Onori, B Koopal, DB Everman… - Human …, 2018 - Wiley Online Library
The abundantly expressed calcium/calmodulin‐dependent protein kinase II (CAMK2), alpha
(CAMK2A), and beta (CAMK2B) isoforms are essential for learning and memory formation …

[HTML][HTML] Generation and behavior characterization of CaMKIIβ knockout mice

AD Bachstetter, SJ Webster, T Tu, DS Goulding… - PloS one, 2014 - journals.plos.org
The calcium/calmodulin-dependent protein kinase II (CaMKII) is abundant in the brain,
where it makes important contributions to synaptic organization and homeostasis, including …

A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder

M Zech, DD Lam, S Weber… - Molecular …, 2018 - molecularcasestudies.cshlp.org
Calcium/calmodulin-dependent protein kinases (CaMKs) are key mediators of calcium
signaling and underpin neuronal health. Although widely studied, the contribution of CaMKs …

[HTML][HTML] Association of CaMK2A and MeCP2 signaling pathways with cognitive ability in adolescents

LC Lee, MT Su, HY Huang, YC Cho, TK Yeh… - Molecular brain, 2021 - Springer
The glutamatergic signaling pathway is involved in molecular learning and human cognitive
ability. Specific single variants (SNVs, formerly single-nucleotide polymorphisms) in the …