Literature summary for 3.10.1.1 extracted from

Settembre, C.; Annunziata, I.; Spampanato, C.; Zarcone, D.; Cobellis, G.; Nusco, E.; Zito, E.; Tacchetti, C.; Cosma, M.P.; Ballabio, A.
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency (2007), Proc. Natl. Acad. Sci. USA, 104, 4506-4511.

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Protein Variants

Protein Variants	Comment	Organism
additional information	construction of a mouse line carrying a null mutation in the Sumf1 gene, sulfatase activities are completely absent in Sumf1-/- mice, which display frequent early mortality, congenital growth retardation, skeletal abnormalities, and neurological defects, tissues show progressive cell vacuolization, significant lysosomal storage of glycosaminoglycans and a generalized inflammatory process characterized by a massive presence of highly vacuolated macrophages, phenotype, overview	Mus musculus

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
lysosome	-	Mus musculus	5764	-

Organism

Organism	UniProt	Comment	Textmining
Mus musculus	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
brain	-	Mus musculus	-
brain cortex	-	Mus musculus	-
cerebellum	-	Mus musculus	-
macrophage	highly vacuolated	Mus musculus	-
microglia	-	Mus musculus	-

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Release 2023.1 (January 2023)