Glycosphingolipid analysis in a naturally occurring ovine model of acute neuronopathic Gaucher disease.

Abstract

Gaucher disease arises from mutations in the β-glucocerebrosidase gene which encodes an enzyme required for the lysosomal catabolism of glucosylceramide. We have identified a naturally occurring mutation in the β-glucocerebrosidase gene in sheep that leads to Gaucher disease with acute neurological symptoms. Here we have examined the clinical phenotype at… (More)
DOI: 10.1016/j.nbd.2016.03.011

Topics

  • Presentations referencing similar topics