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Direct observation of the nanoscale dynamics of membrane lipids in a living cell
TLDR
The ability of stimulated emission depletion (STED) far-field fluorescence nanoscopy to detect single diffusing (lipid) molecules in nanosized areas in the plasma membrane of living cells is demonstrated. Expand
Mouse models of Tay–Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism
TLDR
The Tay–Sachs and Sandhoff diseases are clinically similar neurodegenerative disorders and through disruption of the Hexa and Hexb genes in embryonic stem cells, mouse models corresponding to each disease are established. Expand
CD95 Signaling via Ceramide-rich Membrane Rafts*
TLDR
In vitro and in vivo, extracellularly orientated ceramide, released upon CD95-triggered translocation of ASM to the plasma membrane outer surface, enabled clustering of CD95 in sphingolipid-rich membrane rafts and apoptosis induction. Expand
Mice Expressing Only Monosialoganglioside GM3 Exhibit Lethal Audiogenic Seizures*
TLDR
It is demonstrated unequivocally that gangliosides play an essential role in the proper functioning of the central nervous system (CNS) and that GD3S−/− mice, even with an absence of b-series ganglioides, appear to undergo normal development and have a normal life span. Expand
Sphingolipid metabolism diseases.
TLDR
Patients suffering from the attenuated form (type 1) of Gaucher disease and from Fabry disease have been successfully treated with ERT, and the reduction of substrate influx into the lysosomes can be achieved by substrate reduction therapy. Expand
Acid sphingomyelinase deficient mice: a model of types A and B Niemann–Pick disease
TLDR
Analysis of the ASM deficient mice showed their tissues had no detectable ASM activity, the blood cholesterol levels and sphingomyelin in the liver and brain were elevated, and atrophy of the cerebellum and marked deficiency of Purkinje cells was evident. Expand
Enhanced insulin sensitivity in mice lacking ganglioside GM3
TLDR
Results show that GM3 ganglioside is a negative regulator of insulin signaling, making it a potential therapeutic target in type 2 diabetes, and protected from high-fat diet-induced insulin resistance. Expand
Apoptotic vesicles crossprime CD8 T cells and protect against tuberculosis.
TLDR
It is demonstrated that apoptotic vesicles from mycobacteria-infected macrophages stimulate CD8 T cells in vivo, and the detour pathway is proposed to represent a genuine immunological mechanism mediating crosspriming ofCD8 Tcells in vivo and protection against tuberculosis. Expand
Combinatorial Ganglioside Biosynthesis*
TLDR
The vital role of glycosphingolipids has been demonstrated by the fact that their complete deficiency in mice leads to early embryonic lethality, and the large number of theoretically possible glycolipid structures that can be formed by combination of different carbohydrate building blocks, linkage positions, and stereochemistry is realized. Expand
Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis
TLDR
Clinical heterogeneity may be caused by rather diverse substrate specificities and functions of lysosomal hydrolases, multifunctional properties of SAPs, and the strong regulation of ganglioside catabolism by membrane lipids. Expand
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