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• W2464996892 abstract "Abstract Ca V 1.3 channels are a major class of L-type Ca 2+ channels which contribute to the rhythmicity of the heart and brain. In the brain, these channels are vital for excitation-transcription coupling, synaptic plasticity, and neuronal firing. Moreover, disruption of Ca V 1.3 function has been associated with several neurological disorders. Here, we focus on the de novo missense mutation A760G which has been linked to autism spectrum disorder (ASD). To explore the role of this mutation in ASD pathogenesis, we examined the effects of A760G on Ca V 1.3 channel gating and regulation. Introduction of the mutation severely diminished the Ca 2+ -dependent inactivation (CDI) of Ca V 1.3 channels, an important feedback system required for Ca 2+ homeostasis. This reduction in CDI was observed in two major channel splice variants, though to different extents. Using an allosteric model of channel gating, we found that the underlying mechanism of CDI reduction is likely due to enhanced channel opening within the Ca 2+ -inactivated mode. Remarkably, the A760G mutation also caused an opposite increase in voltage-dependent inactivation (VDI), resulting in a multifaceted mechanism underlying ASD. When combined, these regulatory deficits appear to increase the intracellular Ca 2+ concentration, thus potentially disrupting neuronal development and synapse formation, ultimately leading to ASD." @default.
• W2464996892 created "2016-07-22" @default.
• W2464996892 creator A5006064421 @default.
• W2464996892 creator A5006303682 @default.
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• W2464996892 creator A5070207038 @default.
• W2464996892 date "2016-06-03" @default.
• W2464996892 modified "2023-10-16" @default.
• W2464996892 title "An autism-associated mutation in CaV1.3 channels has opposing effects on voltage- and Ca2+-dependent regulation" @default.
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• W2464996892 doi "https://doi.org/10.1038/srep27235" @default.
• W2464996892 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4891671" @default.
• W2464996892 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/27255217" @default.
• W2464996892 hasPublicationYear "2016" @default.
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