A gain-of-function mutation in the CaMK4 gene induced elevated CaMK4 basal activity in vitro and altered spatial memory in a knock-in mouse model
Jacqueline Kaiser, Auriane Gerbelot-Barrillon, Lisa Murray-Segal, Bruce E. Kemp, Scott McLean, Anthony R. Means, Anthony J. Hannan, Andrew Gundlach, John W. Scott · FENS Forum 2024
The serine/threonine protein kinase, ‘Ca2+-calmodulin (CaM)-dependent protein kinase 4’ (CaMK4) regulates gene expression and protein activity in response to Ca2+-stimuli in brain neurons and modulates neuronal function and development, late long-term potentiation, memory formation and cognition [1,2]. Four patients have been identified with a de-novo mutation c.928A>G in the CaMK4 gene (S. McLean, unpublished data), resulting in a M310V variant in the autoinhibitory domain of CaMK4. Clinically, these patients display developmental delays and intellectual disabilities, in some cases accompa
ePoster · Neuroscience