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Results: 3
View Article
New therapeutic approaches for Krabbe disease
Samantha J Spratley
,
Janet E Deane
May 03, 2016
GALC
Krabbe disease
galactocerebroside
lysosomal storage disorder
pharmacological chaperone therapy
β-galactocerebrosidase
Animals
Enzyme Replacement Therapy
Galactosylceramidase
Humans
Leukodystrophy
Globoid Cell
Molecular Chaperones
Published by:
View Article
Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.
María B Cachón-González
,
Susan Wang
,
Timothy M Cox
Jun 22, 2021
Animals
Autophagosomes
Biomarkers
Disease Models
Animal
Disease Progression
Disease Susceptibility
Gene Expression
Gene Knockdown Techniques
Humans
Leukodystrophy
Globoid Cell
Mice
Microglia
Neuroinflammatory Diseases
Protein Transport
Receptor-Interacting Protein Serine-Threonine Kinases
Severity of Illness Index
Transcriptome
Published by:
View Article
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Samantha J Spratley
,
Chris H Hill
,
Agnete H Viuff
,
James R Edgar
,
Karsten Skjødt
,
Janet E Deane
Apr 26, 2016
Krabbe disease
galactocerebrosidase
globoid cell leukodystrophy
glycosphingolipid
lysosomal storage disease
Cell Line
Galactosylceramidase
Humans
Leukodystrophy
Globoid Cell
Lysosomes
Mutation
Protein Processing
Post-Translational
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