GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.
PMID:15647513
| Citation |
Cho, SK, Gao, N, Pearce, DA, Lehrman, MA and Hofmann, SL (2005) Characterization of lipid-linked oligosaccharide accumulation in mouse models of Batten disease. Glycobiology 15:637-48 |
|---|---|
| Abstract |
The neuronal ceroid lipofuscinoses (NCLs, also known collectively as Batten disease) are a group of lysosomal storage disorders characterized by the accumulation of autofluorescent storage material in the brain and other tissues. A number of genes underlying various forms of NCL have been cloned, but the basis for the neurodegeneration in any of these is unknown. High levels of dolichol pyrophosphoryl oligosaccharides have previously been demonstrated in brain tissue from several NCL patients, but the specificity of the effect for the NCLs has been unclear. In the present study, we examine eight mouse models of lysosomal storage disorders by modern FACE and found striking lipid-linked oligosaccharide (LLO) accumulation in NCL mouse models (especially CLN1, CLN6, and CLN8 knockout or mutant mice) but not in several other lysosomal storage disorders affecting the brain. Using a mouse model of the most severe form of NCL (the PPT1 knockout mouse), we show that accumulated LLOs are not the result of a defect in LLO synthesis, extension, or transfer but rather are catabolic intermediates derived from LLO degradation. LLOs are enriched about 60-fold in the autofluorescent storage material purified from PPT1 knockoutmouse brain but comprise only 0.3% of the autofluorescent storage material by mass. The accumulation of LLOs is postulated to result from inhibition of late stages of lysosomal degradation of autophagosomes, which may be enriched in these metabolic precursors. |
| Links |
PubMed Online version:10.1093/glycob/cwi042 |
| Keywords |
Animals; Brain/metabolism; Disease Models, Animal; Lipopolysaccharides/biosynthesis; Lipopolysaccharides/chemistry; Lipopolysaccharides/metabolism; Mice; Mice, Inbred C57BL; Mice, Knockout; Microsomes/metabolism; Neuronal Ceroid-Lipofuscinoses/metabolism |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO ID | GO term name | Evidence Code | with/from | Aspect | Notes | Status |
|---|---|---|---|---|---|---|---|---|
| edit table |
See also
References
See Help:References for how to manage references in GONUTS.
