Article

FAM57B is a modulator of ceramide synthesis that regulates sphingolipid homeostasis and synaptic composition in the developing brain

2021-03-02

Abstract excerpt

The complex 16p11.2 Deletion Syndrome (16pdel) is accompanied by neurological disorders, including epilepsy, autism spectrum disorder and intellectual disability. We demonstrate that 16pdel iPSC differentiated neurons showed 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 cand...

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Literature Corpus work: af094dd6-72d7-50ff-b7e4-f60e26bcd4a2
DOI: 10.1101/2021.03.02.433619

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