摘要 |
A recombinant vector having an expression cassette comprising a modified human low density lipoprotein receptor (hLDLR) gene is provided, wherein said hLDLR gene encodes a modified hLDLR comprising (a) one or more of the following amino acid substitutions: L318H, N295D, H306D, V307D, N309A, D310N, L318H, and/or L318D; or (b) an amino acid substitution of any of (a) in combination with one or more of the following amino acid substitutions: K796, K809R and/or C818A. Also provided are pharmaceutical compositions containing this vector and uses therefor in lowering cholesterol and/or treating familial hypercholesterolemia. |
申请人 |
The Trustees of The University of Pennsylvania |
发明人 |
WILSON, James, M.;RADER, Daniel, J.;SOMANATHAN, Suryanrayan |