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A Novel Therapeutic Concept for Fabry Disease

Hila Braunstein et al.
October 07, 2020

Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat

Fabry disease is caused by mutations that affect the lysosomal enzyme α-galactosidase, but the pathophysiology of the disease remains to be completely understood. A recent study that was co-authored by CENTOGENE’s CEO Prof. Arndt Rolfs revealed misfolding of mutant α-galactosidase in the endoplasmic reticulum. These findings and their therapeutic implications were published in the International Journal of Molecular Sciences.