| | |  | | | | Record from Web of Science® | | | | | | |
| Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing |
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| Author(s): Chao HJ, Mansfield SG, Bartel RC, Hiriyanna S, Mitchell LG, Garcia-Blanco M, Walsh CE |
| Source: NATURE MEDICINE Volume: 9 Issue: 8 Pages: 1015-1019 Published: AUG 2003 |
| Times Cited: 60 References: 22 |
| Abstract: Conventional gene therapy of hemophilia A relies on the transfer of factor VIII (FVIII; encoded by the F8 gene) cDNA. We carried out spliceosome-mediated RNA trans-splicing (SMaRT) to repair mutant FVIII mRNA. A pre-trans-splicing molecule (PTM) corrected endogenous FVIII mRNA in F8 knockout mice with the hemophilia A phenotype, producing sufficient functional FVIII to correct the hemophilia A phenotype. This is the first description of phenotypic correction of a genetic defect by RNA repair in a knockout animal model. Our results indicate the feasibility of using SMaRT to repair RNA for the treatment of genetic diseases. |
| Document Type: Article |
| Language: English |
| Reprint Address: Walsh, CE (reprint author), Mt Sinai Sch Med, Dept Med, New York, NY 10029 USA |
Addresses:
1. Mt Sinai Sch Med, Dept Med, New York, NY 10029 USA
2. Intronn Inc, Gaithersburg, MD 20878 USA |
| Publisher: NATURE PUBLISHING GROUP, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 USA |
| Subject Category: Biochemistry & Molecular Biology; Cell Biology; Medicine, Research & Experimental |
| IDS Number: 706ZL |
| ISSN: 1078-8956 |
| DOI: 10.1038/nm900 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |