Article
Dependence of reversibility and progression of mouse neuronopathic Gaucher disease on acid beta-glucosidase residual activity levels.
Molecular genetics and metabolism - 1 Jun 2008
Xu You-Hai, Reboulet Rachel, Quinn Brian, Huelsken Joerg, Witte David, Grabowski Gregory A
Abstract excerpt
Genetic and chemically induced neuronopathic mouse models of Gaucher disease were developed to facilitate understanding of the reversibility and/or progression of CNS involvement. The lethality of the skin permeability barrier defect of the complete gene knock out [gba, (glucocerebrosidase) GCase] was avoided by conditional reactivation of a low activity allele (D409H) in keratinocytes (kn-9H). In kn-9H mice,...
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