THE TRUSTEES OF THE UNIVERSITY OF PENNSYLVANIA;THE TRUSTEES OF THE UNIVERSITY OF PENNYSYLVANIA
发明人:
WILSON, JAMES M.,RADER, DANIEL J.,SOMANATHAN, SURYANRAYAN
申请号：
CA2946392
公开号：
CA2946392A1
申请日:
2015.04.24
申请国别(地区):
CA
年份:
2015
代理人:
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.
