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Article

New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.

Journal of inherited metabolic disease - 1 Mar 2023

Sorrentino Nicolina Cristina, Presa Maximiliano, Attanasio Sergio, Cacace Vincenzo, Sofia Martina, Zuberi Aamir, Ryan Jennifer, Ray Somdatta, Petkovic Igor, Radhakrishnan Karthikeyan, Schlotawa Lars, Ballabio Andrea, Lutz Cathleen, Brunetti-Pierri Nicola

Abstract excerpt

Multiple sulfatase deficiency (MSD) is an ultrarare lysosomal storage disorder due to deficiency of all known sulfatases. MSD is caused by mutations in the Sulfatase Modifying Factor 1 (SUMF1) gene encoding the enzyme responsible for the post-translational modification and activation of all sulfatases. Most MSD patients carry hypomorph SUMF1 variants resulting in variable degrees of residual sulfatase activities....

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Identifiers

PMID: 36433920
DOI: 10.1002/jimd.12577
PMCID: PMC10832386

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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