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@ARTICLE{Sandhoff:136797,
author = {R. Sandhoff$^*$ and H. Schulze and K. Sandhoff},
title = {{G}anglioside {M}etabolism in {H}ealth and {D}isease.},
journal = {G3: Genes, genomes, genetics},
volume = {156},
issn = {2160-1836},
address = {Pittsburgh, PA},
publisher = {Genetics Soc. of America},
reportid = {DKFZ-2018-01235},
pages = {1-62},
year = {2018},
abstract = {Gangliosides (GGs) are cell type-specific sialic
acid-containing glycosphingolipids (GSLs), which are
enriched in mammalian brain. Defects in GSL metabolism cause
fatal human diseases. GSLs are composed of a hydrophilic
oligosaccharide linked in 1-O-position to a hydrophobic
ceramide anchor, which itself is composed of a long-chain
amino alcohol, the sphingoid base, and an amide-bound acyl
chain. Biosynthesis of mammalian GGs and other GSLs starts
with the formation of their hydrophobic ceramide anchor in
the endoplasmic reticulum, followed by sequential
glycosylation reactions along the secretory pathway, mainly
at the luminal surface of Golgi and trans-Golgi network
(TGN) membranes. Few membrane-anchored and often promiscuous
glycosyltransferases allow the formation of cell
type-specific glycolipid patterns in a combinatorial
process. Inherited defects of these transferases therefore
affect not only single structures but defined glycolipid
series. GGs and other GSLs are thereafter transported by an
exocytotic membrane flow to the plasma membrane where they
are expressed in cell type-specific patterns, which can be
modified by metabolic reactions at or near the cellular
surface. Endocytosed (glyco)sphingolipids are degraded,
together with other membrane lipids in a stepwise fashion by
endolysosomal enzymes with the help of small lipid-binding
proteins, the sphingolipid activator proteins (SAPs), at the
surface of intraluminal lysosomal vesicles. Inherited
defects in a sphingolipid-degrading enzyme or SAP cause the
accumulation of the corresponding lipid substrates.
Endolysosomal GSL degradation is strongly modified by the
lipid components of the organelle microenvironments.},
subtyp = {Review Article},
cin = {G131},
ddc = {570},
cid = {I:(DE-He78)G131-20160331},
pnm = {317 - Translational cancer research (POF3-317)},
pid = {G:(DE-HGF)POF3-317},
typ = {PUB:(DE-HGF)16},
pubmed = {pmid:29747811},
doi = {10.1016/bs.pmbts.2018.01.002},
url = {https://inrepo02.dkfz.de/record/136797},
}