@article{2a606d542c61410a83e7ad2aef9cfe60,
title = "Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing",
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.",
author = "Hengjun Chao and Mansfield, \{S. Gary\} and Bartel, \{Robert C.\} and Suja Hiriyanna and Mitchell, \{Lloyd G.\} and Garcia-Blanco, \{Mariano A.\} and Walsh, \{Christopher E.\}",
note = "Funding Information: We thank J. Huang and X. Zeng for technical assistance, S. Connelly and P. Shirley (GTI/Novartis) for the AdhuF8 mouse plasma and R. Sarkar and H. Kazazian for the F8 E16 knockout mice and advice. H.J.C. is a recipient of a Career Development Award from the National Hemophilia Foundation. National Institutes of Health grant RO1-68215 provided funding for this project.",
year = "2003",
month = aug,
day = "1",
doi = "10.1038/nm900",
language = "English",
volume = "9",
pages = "1015--1019",
journal = "Nature Medicine",
issn = "1078-8956",
publisher = "Nature Research",
number = "8",
}