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Updated: Jan 22, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Mannose 6-phosphonate labelling: A key for processing the therapeutic enzyme in Pompe disease
Anastasia Godefroy1,2, Morgane Daurat1,2, Afitz Da Silva1,2
1IBMM, CNRS, ENSCM, University of Montpellier, Montpellier, France.
Abstract:
In the search of a better enzyme therapy in Pompe disease, the conjugation of mannose 6-phosphonates to the recombinant enzyme appeared as an enhancer of its efficacy. Here, we demonstrated that the increased efficacy of the conjugated enzyme is partly due to a higher intracellular maturation because of its insensitiveness to acid phosphatases during the routing to lysosomes.
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