Arimoclomol as a potential therapy for neuronopathic Gaucher Disease

Abstract excerpt

Gaucher Disease (GD) is caused by mutations of the GBA gene which encodes the lysosomal enzyme acid beta-glucosidase (GCase). GBA mutations commonly affect GCase function by perturbing its protein homeostasis rather than its catalytic activity. Heat shock proteins (HSPs) are well known cytoprotective molecules with numerous functions in protein homeostasis and lysosomal function and their manipulation has been s...

Topics

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• Amino Acid Sequence
• Base Sequence
• Gaucher Disease
• Glucosylceramidase
• Lysosomes
• Mutation
• Parkinson Disease
• Protein Folding

Identifiers and source

Literature Corpus work

bbf03875-2dce-54b1-8059-5500a1151553

DOI

10.1101/281824