[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 …
[HTML][HTML] 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 …
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 …
De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders
Objective α (CAMK 2A) and β (CAMK 2B) isoforms of Calcium/calmodulin‐dependent
protein kinase II (Ca MKII) play a pivotal role in neuronal plasticity and in learning and …
protein kinase II (Ca MKII) play a pivotal role in neuronal plasticity and in learning and …
[HTML][HTML] 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 …
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 …
different isozymes, encoded by four different genes—CAMK2A, CAMK2B, CAMK2G, and …
[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 …
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 …
A familial case of CAMK2B mutation with variable expressivity
P Heiman, S Drewes… - SAGE Open Medical …, 2021 - journals.sagepub.com
Variants in CAMK2-associated genes have recently been implicated in neurodevelopmental
disorders and intellectual disability. The clinical manifestations reported in patients with …
disorders and intellectual disability. The clinical manifestations reported in patients with …
[HTML][HTML] Case Report: Developmental Delay and Acute Neuropsychiatric Episodes Associated With a de novo Mutation in the CAMK2B Gene (c.328G>A p …
BK Dwyer, DCM Veenma, K Chang… - Frontiers in …, 2022 - frontiersin.org
Mutations in the genes encoding calcium/calmodulin dependent protein kinase II (CAMK2)
isoforms cause a newly recognized neurodevelopmental disorder (ND), for which the full …
isoforms cause a newly recognized neurodevelopmental disorder (ND), for which the full …