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Updated: Apr 25, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Rehabilitating mutant GCase
Jennifer N Rauch1, Jason E Gestwicki1
1Department of Pharmaceutical Chemistry, Institute for Neurodegenerative Disease, University of California at San Francisco, 675 Nelson Rising Lane, San Francisco, CA 94158, USA.
Abstract:
Gaucher's disease is a hereditary deficiency of the enzyme β-glucocerebrosidase (GCase) that is most commonly treated by enzyme replacement therapy. In this issue of Chemistry & Biology, Tan and colleagues search for alternative ways to rehabilitate mutant GCase by understanding how it interacts with the proteostasis network.
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