A novel iPSC model reveals selective vulnerability of neurons in Multiple Sulfatase Deficiency
Vi Pham,
Livia Sertori Finoti,
Margaret M. Cassidy
et al.
Abstract: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, hearing loss, organomegaly, corneal clouding, cardiac valve disease, dysostosis multiplex, contractu… Show more
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