Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

Abstract 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...

Descripció completa

Dades bibliogràfiques

Autors principals:	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 Monfregola, Tonatiuh Pena, Karthikeyan Radhakrishnan, Sophie Schröder, Elisa A Waxman, Andrea Ballabio, Thomas Dierks, André Fischer, Deborah L French, Michael H Gelb, Jutta Gärtner
Format:	Artigo
Idioma:	Inglês
Publicat:	Springer Nature 2023-02-01
Col·lecció:	EMBO Molecular Medicine
Matèries:	drug screening formylglycine‐generating enzyme lysosomal disorder retinoids sulfatase‐modifying factor 1
Accés en línia:	https://doi.org/10.15252/emmm.202114837
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!