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Topic: A749G mutation

ePoster
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In Neuroscience

The effect of the autism-associated A749G CACNA1D (Cav1.3) mutation on neuronal morphology

Yuliia Nikonishyna, Nadine Ortner, Stefanie Geisler, Eva Fritz, Gerald Obermair, Joerg Striessnig · FENS Forum 2024

De novo gain-of-function mutations in Cav1.3 voltage-gated L-type calcium channels (CACNA1D gene) confer a high risk for neurodevelopmental and neuropsychiatric diseases. However, how these mutations affect neuronal function remains elusive. Previously, we demonstrated that the autism-associated A749G mutation induced an overall dendritic spine elongation in transfected mouse hippocampal neurons. This study aimed to investigate the influence of A749G Cav1.3 channels on the dendritic branching, spine density, and neuronal soma size in the brains of heterozygous (HET) A749G knock-in mice. To do

ePoster · Neuroscience