Article
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Human mutation - 1 Jun 2004
Cosma Maria Pia, Pepe Stefano, Parenti Giancarlo, Settembre Carmine, Annunziata Ida, Wade-Martins Richard, Di Domenico Carmela, Di Natale Paola, Mankad Anuj, Cox Barbara, Uziel Graziella, Mancini Grazia M S, Zammarchi Enrico, Donati Maria Alice, Kleijer Wim J, Filocamo Mirella, Carrozzo Romeo, Carella Massimo, Ballabio Andrea
Abstract excerpt
Multiple sulfatase deficiency (MSD) is a rare disorder characterized by impaired activity of all known sulfatases. The gene mutated in this disease is SUMF1, which encodes a protein involved in a post-translational modification at the catalytic site of all sulfatases that is necessary for their function. SUMF1 strongly enhances the activity of sulfatases when coexpressed with sulfatase in Cos-7 cells. We...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.