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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 mut...

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Share to Chromosomes, Human, Pair 3
Share to COS Cells
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation, Enzymologic

Share to Protein Structure, Tertiary

Share to Sequence Homology, Amino Acid

Share to Sequence Homology, Nucleic Acid

Share to Sulfatases

Source

Identifiers

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

Genes

SUMF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12757706-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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

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