SPTLC1 variants associated with childhood onset amyotrophic lateral sclerosis produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
M. A. Lone, M. J. Aaltonen, A. Zidell, H. F. Pedro, J. A. M. Saute, S. Mathew, P. Mohassel, C. Bonnemann, E. A. Shoubridge, T. Hornemann
The paper shows that SPTLC1 variants causing childhood ALS disrupt ORMDL interactions, leading to altered sphingolipid synthesis and distinct lipid signatures, modifiable by L-serine availability.
bioRxiv · Apr 29, 2022 · PreprintBiochemistry