| First Author | Cosma MP | Year | 2003 |
| Journal | Cell | Volume | 113 |
| Issue | 4 | Pages | 445-56 |
| PubMed ID | 12757706 | Mgi Jnum | J:354384 |
| Mgi Id | MGI:7734778 | Doi | 10.1016/s0092-8674(03)00348-9 |
| Citation | Cosma MP, et al. (2003) The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell 113(4):445-56 |
| abstractText | 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. |
