Ontology highlight
ABSTRACT:
INSTRUMENT(S): Orbitrap Fusion ETD
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Brain, Sciatic Nerve
DISEASE(S): Krabbe Disease
SUBMITTER: Davide Pellegrini
LAB HEAD: Liam A. McDonnell
PROVIDER: PXD010594 | Pride | 2019-04-04
REPOSITORIES: Pride
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Molecular & cellular proteomics : MCP 20190329 6
Krabbe disease is a rare, childhood lysosomal storage disorder caused by a deficiency of galactosylceramide beta-galactosidase (GALC). The major effect of GALC deficiency is the accumulation of psychosine in the nervous system and widespread degeneration of oligodendrocytes and Schwann cells, causing rapid demyelination. The molecular mechanisms of Krabbe disease are not yet fully elucidated and a definite cure is still missing. Here we report the first in-depth characterization of the proteome ...[more]