@article{666d297752794dd79dd241c43f09f5e3,
title = "The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases",
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.",
author = "Cosma, {Maria Pia} and Stefano Pepe and Ida Annunziata and Newbold, {Robert F.} and Markus Grompe and Giancarlo Parenti and Andrea Ballabio",
note = "Funding Information: We thank Deborah Trott for sending us the hybrid panel, R. Wade-Martins for help in producing HSV-1 amplicons, Y. Saeki for the pHGCX vector, A. Chiocca for support in amplicon experiments, M. Salvatore and R. Pacelli for support in hybrid irradiation, and S. Banfi for advice in bioinformatic analyses. We are grateful to the following people who sent us cell lines: A. Mankad and B. Cox for the BA426 (GM3245) immortalized cell line, K. von Figura for BA428 (G1022/94), BA806 (G1608/97), BA807, BA809, and BA811 (G2134/99), E. Zammarchi and M.A. Donati for BA810 (G1480/96), R. Carrozzo for BA815, M. Filocamo and the Telethon-funded cell bank for BA919, P. Di Natale for BA920, and R.M. Sandri-Goldin for the pacVero 2-2 cell line. We also acknowledge the important support of TIGEM Sequencing, Mutation Detection and Linkage Mapping core facilities with the supervision of Drs. Nigro, Zollo, and Carella. We are grateful to G. Andria, A. Beaudet, G. Diez-Roux, P. Di Natale, J.R. Lupski, and G. Meroni for advice and for the critical reading of the manuscript. This work was supported by an institutional grant of the Telethon Foundation to TIGEM.",
year = "2003",
month = may,
day = "16",
doi = "10.1016/S0092-8674(03)00348-9",
language = "English (US)",
volume = "113",
pages = "445--456",
journal = "Cell",
issn = "0092-8674",
publisher = "Cell Press",
number = "4",
}