1. Moving Towards New Therapies for Fabry Disease

Moving Towards New Therapies for Fabry Disease

Susanne Seemann 1 M Ernst 1 Chiara Cimmaruta 1 Stephan Struckmann 1 Dr. rer. nat. Claudia Cozma, MD 2 Dirk Koczan 1 Anne-Marie Knospe 1 LR Haake 1 Valentina Citro 3 Anja Bräuer, PhD 4 Giuseppina Andreotti 5 Maria Cubellis 3 Georg Fuellen 1 Andreas Hermann, MD 1 Anne Katrin Giese, MD 6 Prof. Arndt Rolfs, MD 2 Jan Lukas, PhD 1
1 University of Rostock 2 CENTOGENE AG 3 Federico II University Naples, Italy 4 Carl von Ossietzky University Oldenburg 5 Consiglio Nazionale delle Ricerche, Pozzuoli, Italy 6 Harvard Medical School Boston
January 03, 2020

Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

Fabry disease is a multi-system lysosomal storage disorder. As it is caused by an enzyme deficiency, enzyme replacement therapy is the standard treatment option. To overcome some of the issues with this strategy, alternatives are being explored through a collaborative effort involving researchers from CENTOGENE. The recent finding of proteostasis regulators representing a promising therapeutic target was published in the Biochemical Journal.