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- W2885986299 abstract "Autism spectrum disorder (ASD) is a group of complex, neurological disorders that affect early cognitive, social, and verbal development. Our understanding of ASD has vastly improved with advances in genomic sequencing technology and genetic models that have identified >800 loci with variants that increase susceptibility to ASD. Although these findings have confirmed its high heritability, the underlying mechanisms by which these genes produce the ASD phenotypes have not been defined. Current efforts have begun to functionalize many of these variants and envisage how these susceptibility factors converge at key biochemical and biophysical pathways. In this review, we discuss recent work on intracellular calcium signaling in ASD, including our own work, which begins to suggest it as a compelling candidate mechanism in the pathophysiology of autism and a potential therapeutic target. We consider how known variants in the calcium signaling genomic architecture of ASD may exert their deleterious effects along pathways particularly involving organelle dysfunction including the endoplasmic reticulum (ER), a major calcium store, and the mitochondria, a major calcium ion buffer, and theorize how many of these pathways intersect." @default.
- W2885986299 created "2018-08-22" @default.
- W2885986299 creator A5046299694 @default.
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- W2885986299 creator A5071901364 @default.
- W2885986299 creator A5077354816 @default.
- W2885986299 creator A5078319345 @default.
- W2885986299 date "2018-11-01" @default.
- W2885986299 modified "2023-10-16" @default.
- W2885986299 title "Intracellular calcium dysregulation in autism spectrum disorder: An analysis of converging organelle signaling pathways" @default.
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