Associated Papers
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism.
Dei Cas M et al.
Journal of Lipid Research, 2024
The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Hülsmeier AJ et al.
Journal of Lipid Research, 2023
The pathophysiological role of dihydroceramide desaturase in the nervous system.
Tzou FY et al.
Progress in Lipid Research, 2023
Dihydroceramide desaturase regulates the compartmentalization of Rac1 for neuronal oxidative stress.
Tzou FY et al.
Cell Reports, 2021
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy.
Pant DC et al.
The Journal of Clinical Investigation, 2019
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