{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,18]],"date-time":"2026-05-18T16:40:37Z","timestamp":1779122437875,"version":"3.51.4"},"reference-count":23,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,12,11]],"date-time":"2022-12-11T00:00:00Z","timestamp":1670716800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["NIH U42OD010921"],"award-info":[{"award-number":["NIH U42OD010921"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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 (<jats:italic>SUMF1<\/jats:italic>) gene encoding the enzyme responsible for the post\u2010translational modification and activation of all sulfatases. Most MSD patients carry hypomorph <jats:italic>SUMF1<\/jats:italic> variants resulting in variable degrees of residual sulfatase activities. In contrast, <jats:italic>Sumf1 null<\/jats:italic> mice with complete deficiency in all sulfatase enzyme activities, have very short lifespan with significant pre\u2010wean lethality, owing to a challenging preclinical model. To overcome this limitation, we genetically engineered and characterized in mice two commonly identified patient\u2010based <jats:italic>SUMF1<\/jats:italic> pathogenic variants, namely p.Ser153Pro and p.Ala277Val. These pathogenic missense variants correspond to variants detected in patients with attenuated MSD presenting with partial\u2010enzyme deficiency and relatively less severe disease. These novel MSD mouse models have a longer lifespan and show biochemical and pathological abnormalities observed in humans. In conclusion, mice harboring the p.Ser153Pro or the p.Ala277Val variant mimic the attenuated MSD and are attractive preclinical models for investigation of pathogenesis and treatments for MSD.<\/jats:p>","DOI":"10.1002\/jimd.12577","type":"journal-article","created":{"date-parts":[[2022,11,26]],"date-time":"2022-11-26T14:53:46Z","timestamp":1669474426000},"page":"335-347","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["New mouse models with hypomorphic <i>SUMF1<\/i> variants mimic attenuated forms of multiple sulfatase deficiency"],"prefix":"10.1002","volume":"46","author":[{"given":"Nicolina Cristina","family":"Sorrentino","sequence":"first","affiliation":[{"name":"Telethon Institute of Genetics and Medicine  Pozzuoli Italy"},{"name":"Department of Clinical Medicine and Surgery University of Naples Federico II  Naples 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