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- W3178761105 abstract "The complex 16p11.2 Deletion Syndrome (16pdel) is accompanied by neurological disorders, including epilepsy, autism spectrum disorder and intellectual disability. We demonstrated that 16pdel iPSC differentiated neurons show augmented local field potential activity and altered ceramide-related lipid species relative to unaffected. FAM57B, a poorly characterized gene in the 16p11.2 interval, has emerged as a candidate tied to symptomatology. We found that FAM57B modulates ceramide synthase (CerS) activity, but is not a CerS per se. In FAM57B mutant human neuronal cells and zebrafish brain, composition and levels of sphingolipids and glycerolipids associated with cellular membranes are disrupted. Consistently, we observed aberrant plasma membrane architecture and synaptic protein mislocalization, which were accompanied by depressed brain and behavioral activity. Together, these results suggest that haploinsufficiency of FAM57B contributes to changes in neuronal activity and function in 16pdel Syndrome, through a crucial role for the gene in lipid metabolism." @default.
- W3178761105 created "2021-07-19" @default.
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- W3178761105 date "2021-01-01" @default.
- W3178761105 modified "2023-09-27" @default.
- W3178761105 title "The 16p11.2-Linked Gene, <i>FAM57B</i> Encodes a Modulator of Ceramide Synthesis that Regulates Lipid Levels and Synaptic Composition in the Developing Brain" @default.
- W3178761105 doi "https://doi.org/10.2139/ssrn.3832973" @default.
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