| abstract |
The present invention relates to nucleic acid constructs and gene therapy vectors comprising ATP7B variants for use in the treatment of conditions associated with deficiency or dysfunction of copper transport ATPase2, and in particular, Wilson disease. The AAV vector invented in accordance with the present invention significantly reduced urinary Cu excretion and liver Cu content in Wilson's disease mice treated with this vector. On the other hand, ceruloplasmin activity was significantly recovered. On the other hand, vector administration resulted in normalization of serum transaminase levels and liver histology, with a marked reduction in inflammatory infiltration. |