| | |  | | | | Record from Web of Science® | | | | | | |
| Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C-alpha-formylglycine generating enzyme |
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| Author(s): Dierks T, Schmidt B, Borissenko LV, Peng JH, Preusser A, Mariappan M, von Figura K |
| Source: CELL Volume: 113 Issue: 4 Pages: 435-444 Published: MAY 16 2003 |
| Times Cited: 103 References: 44 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: von Figura, K (reprint author), Univ Gottingen, Heinrich Duker Weg 12, D-37073 Gottingen, Germany |
Addresses:
1. Univ Gottingen, D-37073 Gottingen, Germany |
| Publisher: CELL PRESS, 1100 MASSACHUSETTS AVE, CAMBRIDGE, MA 02138 USA |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology |
| IDS Number: 680MG |
| ISSN: 0092-8674 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |