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Article

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.

Proceedings of the National Academy of Sciences of the United States of America - 13 Mar 2007

Settembre Carmine, Annunziata Ida, Spampanato Carmine, Zarcone Daniela, Cobellis Gilda, Nusco Edoardo, Zito Ester, Tacchetti Carlo, Cosma Maria Pia, Ballabio Andrea

Abstract excerpt

Sulfatases are involved in several biological functions such as degradation of macromolecules in the lysosomes. In patients with multiple sulfatase deficiency, mutations in the SUMF1 gene cause a reduction of sulfatase activities because of a posttranslational modification defect. We have generat...

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Identifiers

PMID: 17360554
DOI: 10.1073/pnas.0700382104
PMCID: PMC1810506

Genes

SUMF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17360554-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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