Article
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.
Human molecular genetics - 15 Mar 2010
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
Abstract excerpt
Gaucher disease is caused by defective acid beta-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 mice (4L;C*) began to exhibit CNS abnormalities approximately 30 days: first as hindlimb paresis, then...
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