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MetabolomicsMetabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease
Not available
ORGANISM(S): Mus musculus 
ST000352 | MetabolomicsWorkbench
ProteomicsQuantitative Microproteomics Based Characterization of the Central and Peripheral Nervous System of a Mouse Model of Krabbe Disease
In-depth characterization of the proteome of the Twitcher mouse, a mouse model for Krabbe disease, to investigate the proteome changes in the Central and Peripheral Nervous System.We applied a TMT-based workflow to compare the proteomes of the corpus callosum, motor cortex and sciatic nerves of litt...
ORGANISM(S): Mus musculus (Mouse) 
2019-04-04 | PXD010594 | Pride
Proteomics Krabbe Tmt Corpus callosum Twitcher mouse Motor cortex Sciatic nerves 
ProteomicsProteostasis network alteration in lysosomal storage disorders: insights from the mouse model of Krabbe diseaseProteostasis network alteration in lysosomal storage disorders: insights from the mouse model of Krabbe diseaseProteostasis network alteration in lysosomal storage disorders: insights from the mouse model of Krabbe disease
Krabbe disease is characterized by widespread demyelination due to cell death by apoptosis, mainly in oligodendrocytes and Schwann cells. In this study, we highlight that in the brain of 6 days old twitcher mice (model of Krabbe disease) there is evidence of impairment in protein synthesis and degra...
ORGANISM(S): Mus musculus (Mouse) 
2019-12-09 | PXD015320 | Pride
Cytoskeleton remodelling Lamin meshwork disaggregation Krabbe disease Twitcher Er stress 
ProteomicsQuantification profiles of enzyme activity, secretion and psychosine levels of Krabbe disease galactosylceramidase missense variants
Krabbe disease (KD) is an autosomal recessive lysosomal storage disorder caused by loss-offunction mutations in the GALC gene, which encodes for the enzyme galactosylceramidase (GALC). GALC is crucial for myelin metabolism. Functional deficiency of GALC leads to toxic accumulation of psychosine, dys...
ORGANISM(S): Homo sapiens (Human) 
2025-05-19 | PXD057472 | Pride
Secretion Missense mutation variant Galactosylceramidase Lysosomal storage disorder Lysosome Galc Psychosine Crispr-cas9 knockout cell Protein trafficking Krabbe disease Expression study Genotype-phenotype correlation Galactosylsphingosine Globoid cell leukodystrophy 
Unknownβ-Galactosylceramidase Deficiency Causes Upregulation of Long Pentraxin-3 in the Central Nervous System of Krabbe Patients and Twitcher Mice.
Not available
S-EPMC9409448 | biostudies-literature
UnknownMetabolic profiling reveals biochemical pathways and potential biomarkers associated with the pathogenesis of Krabbe disease.
Not available
S-EPMC5027975 | biostudies-literature
UnknownHospitalization Burden and Incidence of Krabbe Disease.
Not available
S-EPMC8671150 | biostudies-literature
UnknownGloboid Cell Leukodystrophy (Krabbe Disease): An Update.
Not available
S-EPMC10625317 | biostudies-literature
UnknownKrabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy.
Not available
S-EPMC8633897 | biostudies-literature
UnknownMolecular Characterization of the GALC Mutation Thr112Ala Causing Krabbe Disease.
Not available
S-EPMC12429000 | biostudies-literature
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