Understanding the pathogenetic mechanisms underlying altered neuronal function associated with CAMK2B mutations
R Borghi, M Trivisano, N Specchio, M Tartaglia… - Neuroscience & …, 2023 - Elsevier
Abstract 'Dominant mutations in CAMK2B, encoding a subunit of the calcium/calmodulin-
dependent protein kinase II (CAMK2), a serine/threonine kinase playing a key role in …
dependent protein kinase II (CAMK2), a serine/threonine kinase playing a key role in …
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
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 …
to be essential for normal learning and synaptic plasticity in mice, but its requirement for …
[HTML][HTML] Role of calcium/calmodulin-dependent kinase 2 in neurodevelopmental disorders
MP Onori, GM van Woerden - Brain Research Bulletin, 2021 - Elsevier
Neurodevelopmental disorders are a complex and heterogeneous group of neurological
disorders characterized by their early-onset and estimated to affect more than 3% of children …
disorders characterized by their early-onset and estimated to affect more than 3% of children …
A homozygous loss-of-function CAMK2A mutation causes growth delay, frequent seizures and severe intellectual disability
Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in
synaptic plasticity that underlies learning and memory. Here, we describe a new recessive …
synaptic plasticity that underlies learning and memory. Here, we describe a new recessive …
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 …
(CAMK2A), and beta (CAMK2B) isoforms are essential for learning and memory formation …
[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 …
calcium/calmodulin-dependent protein kinase II (CAMK2A) causes a neurodevelopmental …
Deletion of a single lysine residue at position 292 of CAMK2A disrupts protein function, causing severe epileptic encephalopathy and intellectual disability
C Lintas, A Facchiano, A Azzarà, I Cassano… - Genes, 2023 - mdpi.com
Background: The use of NGS technology has rapidly increased during the last decade, and
many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in …
many new monogenic neurodevelopmental disorders have emerged. Pathogenic variants in …
A unique de novo gain-of-function variant in CAMK4 associated with intellectual disability and hyperkinetic movement disorder
Calcium/calmodulin-dependent protein kinases (CaMKs) are key mediators of calcium
signaling and underpin neuronal health. Although widely studied, the contribution of CaMKs …
signaling and underpin neuronal health. Although widely studied, the contribution of CaMKs …
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the …
S Rizzi, C Spagnoli, GG Salerno… - American Journal of …, 2020 - Wiley Online Library
The CAMK2B gene encodes the β‐subunit of calcium/calmodulin‐dependent protein kinase
II (CAMK2), an enzyme that has crucial roles in synaptic plasticity, especially in hippocampal …
II (CAMK2), an enzyme that has crucial roles in synaptic plasticity, especially in hippocampal …
Förster resonance energy transfer-based kinase mutation phenotyping reveals an aberrant facilitation of Ca2+/calmodulin-dependent CaMKIIα activity in de novo …
H Fujii, H Kidokoro, Y Kondo, M Kawaguchi… - Frontiers in Molecular …, 2022 - frontiersin.org
CaMKIIα plays a fundamental role in learning and memory and is a key determinant of
synaptic plasticity. Its kinase activity is regulated by the binding of Ca2+/CaM and by …
synaptic plasticity. Its kinase activity is regulated by the binding of Ca2+/CaM and by …