Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Cα-Formylglycine generating enzyme
2003 | journal article. A publication with affiliation to the University of Göttingen.
Jump to: Cite & Linked | Documents & Media | Details | Version history
Cite this publication
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human Cα-Formylglycine generating enzyme
Dierks, T.; Schmidt, B.; Borissenko, L. V.; Peng, J.; Preusser, A.; Mariappan, M. & Figura, K. von (2003)
Cell, 113 pp. 435-444.
Documents & Media
Details
- Authors
- Dierks, Thomas; Schmidt, Bernhard; Borissenko, Ljudmila V.; Peng, Jianhe; Preusser, Andrea; Mariappan, Malaiyalam; Figura, Kurt von
- Abstract
- Cα-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 Mp. 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 tri-partite domain structure.
- Issue Date
- 2003
- Publisher
- Cell Press
- Journal
- Cell
- File Format
- application/pdf
- ISSN
- 0092-8674
- Language
- English