Article
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene.
Nature - 4 Jun 1992
Tybulewicz V L, Tremblay M L, LaMarca M E, Willemsen R, Stubblefield B K, Winfield S, Zablocka B, Sidransky E, Martin B M, Huang S P
Abstract excerpt
Gaucher's disease is the most prevalent lysosomal storage disorder in humans and results from an autosomally inherited deficiency of the enzyme glucocerebrosidase (beta-D-glucosyl-N-acylsphingosine glucohydrolase), which is responsible for degrading the sphingolipid glucocerebroside. An animal model for Gaucher's disease would be important for investigating its phenotypic diversity and pathogenesis and for...
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