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Article

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

European journal of human genetics : EJHG - 1 Mar 2011

Schlotawa Lars, Ennemann Eva Charlotte, Radhakrishnan Karthikeyan, Schmidt Bernhard, Chakrapani Anupam, Christen Hans-Jürgen, Moser Hugo, Steinmann Beat, Dierks Thomas, Gärtner Jutta

Abstract excerpt

Multiple Sulfatase Deficiency (MSD) is caused by mutations in the sulfatase-modifying factor 1 gene encoding the formylglycine-generating enzyme (FGE). FGE post translationally activates all newly synthesized sulfatases by generating the catalytic residue formylglycine. Impaired FGE function leads to reduced sulfatase activities. Patients display combined clinical symptoms of single sulfatase deficiencies. For...

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Identifiers

PMID: 21224894
DOI: 10.1038/ejhg.2010.219
PMCID: PMC3062010

Genes

SUMF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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