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The atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy
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 co...
Autores principales: | Hülsmeier, Andreas J., Toelle, Sandra P., Bellstedt, Peter, Wentzel, Christian, Bahr, Angela, Kolokotronis, Konstantinos, Hornemann, Thorsten |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
American Society for Biochemistry and Molecular Biology
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10696257/ http://dx.doi.org/10.1016/j.jlr.2023.100464 |
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