Please use this identifier to cite or link to this item:
http://bura.brunel.ac.uk/handle/2438/2884
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. |
URI: | http://bura.brunel.ac.uk/handle/2438/2884 |
DOI: | http://dx.doi.org/10.1016/S0092-8674(03)00348-9 |
ISSN: | 0092-8674 |
Appears in Collections: | Biological Sciences Dept of Life Sciences Research Papers |
Files in This Item:
File | Description | Size | Format | |
---|---|---|---|---|
Embargoed Paper - B Vivat Palliative Care.txt | 216 B | Text | View/Open |
Items in BURA are protected by copyright, with all rights reserved, unless otherwise indicated.