Article

A novel iPSC model reveals selective vulnerability of neurons in Multiple Sulfatase Deficiency

2023-10-03

Abstract excerpt

Multiple sulfatase deficiency (MSD) is an ultra-rare, inherited lysosomal storage disease caused by mutations in the gene sulfatase modifying factor 1 ( SUMF1 ). MSD is characterized by the functional deficiency of all sulfatase enzymes, leading to the storage of sulfated substrates including glycosaminoglycans (GAGs), sulfolipids, and steroid sulfates. Patients with MSD experience severe neurological impairment,...

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Literature Corpus work: fa25e33c-a47d-5a9a-b25c-e229e850797c
DOI: 10.1101/2023.10.02.560535

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