Associated Papers
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L et al.
Embo Molecular Medicine, 2023
36789546 (PubMed )
Supplement: EMMM-15-e14837-s010.pdf
Molecular analysis of SUMF1 mutations: stability and residual activity of mutant formylglycine-generating enzyme determine disease severity in multiple sulfatase deficiency.
Schlotawa L et al.
Human Mutation, 2008
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Dierks T et al.
Cell, 2003
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