[HTML][HTML] CACNA1D de novo mutations in autism spectrum disorders activate Cav1. 3 L-type calcium channels
A Pinggera, A Lieb, B Benedetti, M Lampert… - Biological …, 2015 - Elsevier
Abstract Background Cav1. 3 voltage-gated L-type calcium channels (LTCCs) are part of
postsynaptic neuronal signaling networks. They play a key role in brain function, including
fear memory and emotional and drug-taking behaviors. A whole-exome sequencing study
identified a de novo mutation, p. A749G, in Cav1. 3 α 1-subunits (CACNA1D), the second
main LTCC in the brain, as 1 of 62 high risk–conferring mutations in a cohort of patients with
autism and intellectual disability. We screened all published genetic information available …
postsynaptic neuronal signaling networks. They play a key role in brain function, including
fear memory and emotional and drug-taking behaviors. A whole-exome sequencing study
identified a de novo mutation, p. A749G, in Cav1. 3 α 1-subunits (CACNA1D), the second
main LTCC in the brain, as 1 of 62 high risk–conferring mutations in a cohort of patients with
autism and intellectual disability. We screened all published genetic information available …