Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 Synthase Deficiency variants
Michelle Dookwah, Shannon K. Wagner, Mayumi Ishihara, Seok‐Ho Yu, Heidi Ulrichs, Michael J. Kulik, Nadja Zeltner, Stephen Dalton, Kevin A. Strauss, Kazuhiro Aoki, Richard Steet, Michael Tiemeyer
This study investigates how two ST3GAL5 variants cause GM3SD by analyzing GSL biosynthesis and signaling changes in patient-derived iPSCs and NCCs.
Human Molecular Genetics · Sep 6, 2023Peer-reviewedNeuroscience