Article
Multiple sulfatase deficiency is caused by mutations in the gene encoding the human C(alpha)-formylglycine generating enzyme.
Cell - 16 May 2003
Dierks Thomas, Schmidt Bernhard, Borissenko Ljudmila V, Peng Jianhe, Preusser Andrea, Mariappan Malaiyalam, von Figura Kurt
Abstract excerpt
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...
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