Ceramides are a heterogeneous group of bioactive membrane sphingolipids that play
specialized regulatory roles in cellular metabolism depending on their characteristic fatty …

Myelin is a specialized cell membrane indispensable for rapid nerve conduction. The high
abundance of membrane lipids is one of myelin's salient features that contribute to its unique …

Sphingolipids function as membrane constituents and signaling molecules, with crucial roles
in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the …

Ectopic lipids play a key role in numerous pathologies, including heart disease, stroke, and
diabetes. Of all the lipids studied, perhaps the most well understood is cholesterol, a widely …

Oligodendrocytes enwrap central nervous system axons with myelin, a lipid enriched highly
organized multi-layer membrane structure that allows for fast long-distance saltatory …

Background Mutations in the β-glucocerebrosidase (GBA1) gene do cause the lysosomal
storage Gaucher disease (GD) and are among the most frequent genetic risk factors for …

Purpose Exome sequencing often identifies pathogenic genetic variants in patients with
undiagnosed diseases. Nevertheless, frequent findings of variants of uncertain significance …

Abstract Dihydroceramide desaturase 1 (DEGS1) converts dihydroceramide (dhCer) to
ceramide (Cer) by inserting a C4-C5 trans (∆ 4E) double bond into the sphingoid backbone …

Sphingolipids are a class of lipids that share a sphingoid base backbone. They exert various
effects in eukaryotes, ranging from structural roles in plasma membranes to cellular …

Myelin, the membrane surrounding neuronal axons, is critical for central nervous system
(CNS) function. Injury to myelin-forming oligodendrocytes (OL) in chronic neurological …