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Article

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Cell - 16 May 2003

Cosma Maria Pia, Pepe Stefano, Annunziata Ida, Newbold Robert F, Grompe Markus, Parenti Giancarlo, Ballabio Andrea

Abstract excerpt

In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated chromosome transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic deficiency in patients' cell lines. Functional conservation of this...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12757706
DOI: 10.1016/s0092-8674(03)00348-9

Genes

SUMF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.PMID 12757706Read ↗

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Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.Semantic proximity Read ↗

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Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationshipSemantic proximity Read ↗

The human SUMF1 gene, required for posttranslational sulfatase modification, defines a new gene family which is conserved from pro- to eukaryotesSemantic proximity Read ↗

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