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Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits
Gaucher disease is caused by defective acid β-glucosidase (GCase) function. Saposin C is a lysosomal protein needed for optimal GCase activity. To test the in vivo effects of saposin C on GCase, saposin C deficient mice (C−/−) were backcrossed to point mutated GCase (V394L/V394L) mice. The resultant...
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| Glavni autori: | , , , , , , , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Oxford University Press
2010
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2830832/ https://ncbi.nlm.nih.gov/pubmed/20047948 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp580 |
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