Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme β-glucocerebrosidase (β-GC). β-GC hydrolyzes glucosylceramide (GluCer) into glucose and ceramide in the lysosome, and the loss of its activity leads to GluCer accumulation i...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Language: | Inglês |
| Published: |
Frontiers Media S.A.
2022-08-01
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| Series: | Frontiers in Molecular Neuroscience |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fnmol.2022.934820/full |
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