Lars Schlotawa, Karolina Tyka, Matthias Kettwig, Rebecca C Ahrens-Nicklas, Matthias Baud, Tea Berulava, Nicola Brunetti-Pierri, Alyssa Gagne, Zackary M Herbst, Jean A Maguire, Jlenia Monfregula, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Multiple sulfatase deficiency (MSD, MIM #272200) results from pathogenic variants in the SUMF1 gene that impair proper function of the formylglycine-generating enzyme (FGE). FGE is essential for the posttranslational activation of cellular sulfatases. MSD patients display reduced or absent sulfatase activities and, as a result, clinical signs of single sulfatase disorders in a unique combination. Up to date therapeutic options for MSD are limited and mostly palliative. We performed a screen of FDA-approved drugs using immortalized MSD patient fibroblasts...
February 15, 2023: EMBO Molecular Medicine