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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 p...

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Identifiers

PMID: 12757705
DOI: 10.1016/s0092-8674(03)00347-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12757705-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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