A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency

Article Abstract:

Multiple sulfatase deficiency (MSD) is a lysosomal storage defect marked by a reduced activity of all familiar sulfatases. The inadequacy of sulfatases was considered to be an outcome of the absence of a co- or posttranslational modification that occurs with all sulfatases and needed for their catalytic activity. Structural analysis of two catalytically active sulfatases showed that a cysteine remnant expected from cDNA sequence and preserved among all familiar sulfatases is represented with a 2-amino-3-oxopropionic acid remnant whereas in sulfatases derived from MSD cells, this cysteine remnant is preserved.

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Molecular basis for multiple sulfatase deficiency and mechanism for formylglycine generation of the human formylglycine-generating enzyme

Article Abstract:

Formylglycine (FGly)-generating enzyme (FGE) is a single-domain monomer with a surprising paucity of secondary structure and adopts a unique fold based on the crystal structure. FGE is localized in the endoplasmic reticulum (ER) and interacts with and modifies the unfolded form of newly synthesized sulfatases.

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

Article Abstract:

Research has been conducted on C (sub)alpha -formylglycine. Results demonstrate that genetic deficiency of C (sub)alpha -formylglycine leads to multiple sulfatase deficiency, and that C (sub)alpha -formylglycine-generating enzyme has been purified and its gene and mutations have been identified and discussed.

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