SPNS1 variants cause multiorgan disease and implicate lysophospholipid transport as critical for mTOR-regulated lipid homeostasis

He M, Ding M, Chocholouskova M, Chin CF, Engvall M, Malmgren H, Wagner M, Lauffer MC, Heisinger J, Malicdan MCV, Allamand V, Durbeej M, Delgado Vega A, Sejersen T, Nordgren A, Torta F, Silver DL

The Journal of clinical investigation