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

Tomasello DL, Kim JL, Khodour Y, McCammon JM, Mitalipova M, Jaenisch R, Futerman AH and Sive H.

BioRxiv, 2021


The complex 16p11.2 Deletion Syndrome is often associated with neurological disorder such as epilepsy, autism and intellectual disability.  Using Axion's Maestro MEA system, a change in local field potential recordings were found in 16p11.2del derived iPSC-neurons.  Non-invasive MEA recording of network electrophysiology from zebrafish larvae were also performed.  A significant decrease in burst duration, number of LFPs per burst, and burst frequency compared to AB were found. These results combined with change in behavior of zebrafish suggest that 16p11.2del plays a crucial role.