Publication: The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
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Hülsmeier, A. J., Toelle, S. P., Bellstedt, P., Wentzel, C., Bahr, A., Kolokotronis, K., & Hornemann, T. (2023). The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy. Journal of Lipid Research, 64, 100464. https://doi.org/10.1016/j.jlr.2023.100464
Abstract
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Abstract
Sphingolipids (SL) represent a structurally diverse class of lipids that are central to cellular physiology and neuronal development and function. Defects in the sphingolipid metabolism are typically associated with nervous system disorders. The C4-dihydroceramide desaturase (DEGS1) catalyzes the conversion of dihydroceramide to ceramide, the final step in the SL de-novo synthesis. Loss of function mutations in DEGS1 cause a hypomyelinating leukodystrophy, which is associated with increased plasma dihydrosphingolipids (dhSL) and with
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Hülsmeier, A. J., Toelle, S. P., Bellstedt, P., Wentzel, C., Bahr, A., Kolokotronis, K., & Hornemann, T. (2023). The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy. Journal of Lipid Research, 64, 100464. https://doi.org/10.1016/j.jlr.2023.100464
