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

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...

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Detalles Bibliográficos
Autores principales: Schlotawa, Lars, Tyka, Karolina, Kettwig, Matthias, Ahrens‐Nicklas, Rebecca C, Baud, Matthias, Berulava, Tea, Brunetti‐Pierri, Nicola, Gagne, Alyssa, Herbst, Zackary M, Maguire, Jean A, Monfregola, Jlenia, Pena, Tonatiuh, Radhakrishnan, Karthikeyan, Schröder, Sophie, Waxman, Elisa A, Ballabio, Andrea, Dierks, Thomas, Fischer, André, French, Deborah L, Gelb, Michael H, Gärtner, Jutta
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9994482/
https://www.ncbi.nlm.nih.gov/pubmed/36789546
http://dx.doi.org/10.15252/emmm.202114837

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