Article
Gaucher disease paradigm: from ERAD to comorbidity.
Human mutation - 1 Oct 2012
Bendikov-Bar Inna, Horowitz Mia
Abstract excerpt
Mutations in the GBA gene, encoding the lysosomal acid beta-glucocerebrosidase (GCase), lead to deficient activity of the enzyme in the lysosomes, to glucosylceramide accumulation and to development of Gaucher disease (GD). More than 280 mutations in the GBA gene have been directly associated with GD. Mutant GCase variants present variable levels of endoplasmic reticulum (ER) retention, due to their inability to...
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