Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme

Dierks T, Schmidt B, Borissenko LV, Peng JH, Preusser A, Mariappan M, Figura von K (2003)
CELL 113(4): 435-444.

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Zeitschriftenaufsatz | Veröffentlicht | Englisch
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Abstract / Bemerkung
C-alpha-formylglycine (FGly) is the catalytic residue in the active site of eukaryotic sulfatases. It is posttranslationally generated from a cysteine in the endoplasmic reticulum. The genetic defect of FGly formation causes multiple sulfatase deficiency (MSD), a lysosomal storage disorder. We purified the FGly generating enzyme (FGE) and identified its gene and nine mutations in seven MSD patients. In patient fibroblasts, the activity of sulfatases is partially restored by transduction of FGE encoding cDNA, but not by cDNA carrying an MSD mutation. The gene encoding FGE is highly conserved among pro- and eukaryotes and has a paralog of unknown function in vertebrates. FGE is localized in the endoplasmic reticulum and is predicted to have a tripartite domain structure.
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Zeitschriftentitel
CELL
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113
Zeitschriftennummer
4
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435-444
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Dierks T, Schmidt B, Borissenko LV, et al. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL. 2003;113(4):435-444.
Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J. H., Preusser, A., Mariappan, M., & Figura von, K. (2003). Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL, 113(4), 435-444. doi:10.1016/S0092-8674(03)00347-7
Dierks, T., Schmidt, B., Borissenko, L. V., Peng, J. H., Preusser, A., Mariappan, M., and Figura von, K. (2003). Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL 113, 435-444.
Dierks, T., et al., 2003. Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL, 113(4), p 435-444.
T. Dierks, et al., “Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme”, CELL, vol. 113, 2003, pp. 435-444.
Dierks, T., Schmidt, B., Borissenko, L.V., Peng, J.H., Preusser, A., Mariappan, M., Figura von, K.: Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme. CELL. 113, 435-444 (2003).
Dierks, Thomas, Schmidt, B, Borissenko, LV, Peng, JH, Preusser, A, Mariappan, M, and Figura von, K. “Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme”. CELL 113.4 (2003): 435-444.

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