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DC Field | Value | Language |
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dc.contributor.author | Newbold, RF | - |
dc.contributor.author | Cosma, MP | - |
dc.contributor.author | Pepe, S | - |
dc.contributor.author | Annunziata, I | - |
dc.contributor.author | Grompe, M | - |
dc.contributor.author | Parenti, G | - |
dc.contributor.author | Ballabio, A | - |
dc.coverage.spatial | 12 | en |
dc.date.accessioned | 2008-12-05T14:27:10Z | - |
dc.date.available | 2008-12-05T14:27:10Z | - |
dc.date.issued | 2003 | - |
dc.identifier.citation | Cell, 113(4): 445-456 | en |
dc.identifier.issn | 0092-8674 | - |
dc.identifier.uri | http://bura.brunel.ac.uk/handle/2438/2884 | - |
dc.description.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. | en |
dc.format.extent | 607361 bytes | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | en | - |
dc.publisher | Cell Press | en |
dc.subject | Multiple sulfatase deficiency gene | en |
dc.subject | Activity of sulfatases | en |
dc.title | The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases | en |
dc.type | Research Paper | en |
dc.identifier.doi | http://dx.doi.org/10.1016/S0092-8674(03)00348-9 | - |
Appears in Collections: | Biological Sciences Dept of Life Sciences Research Papers |
Files in This Item:
File | Description | Size | Format | |
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Embargoed Paper - B Vivat Palliative Care.txt | 216 B | Text | View/Open |
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