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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Main Authors: Sun, Ying, Liou, Benjamin, Ran, Huimin, Skelton, Matthew R., Williams, Michael T., Vorhees, Charles V., Kitatani, Kazuyuki, Hannun, Yusuf A., Witte, David P., Xu, You-Hai, Grabowski, Gregory A.
Format: Artigo
Jezik:Inglês
Izdano: Oxford University Press 2010
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Articles
Online dostop: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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