Scientific Publication 

A Novel Therapeutic Concept for Fabry Disease

Author(s): Braunstein, Hila

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.

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.


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