Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism

Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanism

The last step of ex novo ceramide biosynthesis consists of the conversion of dihydroceramide into ceramide catalyzed by sphingolipid Δ4-desaturase DEGS1. DEGS1 variants were found to be responsible for heterogeneous clinical pictures belonging to the family of hypomyelinating leukodystrophies. To in...

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Bibliographic Details
Main Authors: Michele Dei Cas, Linda Montavoci, Claudia Pasini, Anna Caretti, Sara Penati, Carla Martinelli, Umberto Gianelli, Sara Casati, Francesca Nardecchia, Annalaura Torella, Nicola Brunetti-Pierri, Marco Trinchera
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Journal of Lipid Research
Subjects:
sphingolipids
ceramides
lipidomics
brain lipids
glycolipids
hypomyelinating leukodystrophy 18
Online Access:http://www.sciencedirect.com/science/article/pii/S0022227524000221

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http://www.sciencedirect.com/science/article/pii/S0022227524000221

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