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Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
Gaucher disease, a prevalent lysosomal storage disease (LSD), is caused by insufficient activity of acid β-glucosidase (GCase) and the resultant glucosylceramide (GC)/glucosylsphingosine (GS) accumulation in visceral organs (Type 1) and the central nervous system (Types 2 and 3). Recent clinical and...
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| Hauptverfasser: | , , , , , , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Oxford University Press
2014
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4082362/ https://ncbi.nlm.nih.gov/pubmed/24599400 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddu105 |
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