Aberrant DEGS1 sphingolipid metabolism impairs central and peripheral nervous system function in humans
Gergely Karsai, Florian Kraft, Natja Haag, Georg Christoph Korenke, Benjamin Hänisch, Alaa Othman, Saranya Suriyanarayanan, R. Steiner, Cordula Knopp, Michael Mull, Markus Bergmann, J. M. Schröder, Joachim Weis, Miriam Elbracht, Matthias Begemann, , Ingo Kurth
This study identifies a DEGS1 mutation causing sphingolipid metabolism defects, leading to neurological disorders and suggests dietary intervention as a potential treatment.
Journal of Clinical Investigation · Jan 8, 2019Peer-reviewedGenetics