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Title: The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases
Authors: Newbold, RF
Cosma, MP
Pepe, S
Annunziata, I
Grompe, M
Parenti, G
Ballabio, A
Keywords: Multiple sulfatase deficiency gene;Activity of sulfatases
Issue Date: 2003
Publisher: Cell Press
Citation: Cell, 113(4): 445-456
Abstract: In multiple sulfatase deficiency (MSD), a human inherited disorder, the activities of all sulfatases are impaired due to a defect in posttranslational modification. Here we report the identification, by functional complementation using microcell-mediated chromosome transfer, of a gene that is mutated in MSD and is able to rescue the enzymatic deficiency in patients' cell lines. Functional conservation of this gene was observed among distantly related species, suggesting a critical biological role. Coexpression of SUMF1 with sulfatases results in a strikingly synergistic increase of enzymatic activity, indicating that SUMF1 is both an essential and a limiting factor for sulfatases. These data have profound implications on the feasibility of enzyme replacement therapy for eight distinct inborn errors of metabolism.
ISSN: 0092-8674
Appears in Collections:Biological Sciences
Dept of Life Sciences Research Papers

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