Matches in SemOpenAlex for { <https://semopenalex.org/work/W4281901973> ?p ?o ?g. }
- W4281901973 abstract "ABSTRACT Dysfunction in sodium channels and their ankyrin scaffolding partners have both been implicated in neurodevelopmental disorders, including autism spectrum disorder (ASD). In particular, the genes SCN2A, which encodes the sodium channel NaV1.2, and ANK2, which encodes ankyrin-B, have strong ASD association. Recent studies indicate that ASD-associated haploinsufficiency in Scn2a impairs dendritic excitability and synaptic function in neocortical pyramidal cells, but how NaV1.2 is anchored within dendritic regions is unknown. Here, we show that ankyrin-B is essential for scaffolding NaV1.2 to the dendritic membrane of mouse neocortical neurons, and that haploinsufficiency of Ank2 phenocopies intrinsic dendritic excitability and synaptic deficits observed in Scn2a+/- conditions. Thus, these results establish a direct, convergent link between two major ASD risk genes and reinforce an emerging framework suggesting that neocortical pyramidal cell dendritic dysfunction can be etiological to neurodevelopmental disorder pathophysiology." @default.
- W4281901973 created "2022-06-13" @default.
- W4281901973 creator A5012251464 @default.
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- W4281901973 creator A5090842298 @default.
- W4281901973 date "2022-05-31" @default.
- W4281901973 modified "2023-09-26" @default.
- W4281901973 title "Physical and functional convergence of the autism risk genes <i>Scn2a</i> and <i>Ank2</i> in neocortical pyramidal cell dendrites" @default.
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