Wilson’s disease

Wilson disease (WD), an inherited disorder affecting copper metabolism, is characterized by hepatic cirrhosis and neuronal degeneration, which result from toxic levels of copper that accumulate in the liver and brain, respectively. We reported previously that the  1.3-kb promoter of the WD gene contains four metal response elements (MREs). Among the four MREs, MREa plays the most important role in the transcriptional activation of the WD promoter.

11p research12 01-06-2013 53 3   Download

ZntA, a bacterial zinc-transporting P-type ATPase, is homologous to two human ATPases mutated in Menkes and Wilson diseases. To explore the roles of the bacterial ATPase residues homologous to those involved in the humandiseases, we have introduced several pointmutations into ZntA. The mutants P401L, D628A and P634L corres-pond to the Wilson disease mutations P992L, D1267A and P1273L, respectively.

8p research12 29-04-2013 43 3   Download

Tuyển tập báo cáo các nghiên cứu khoa học quốc tế ngành y học dành cho các bạn tham khảo đề tài: Leptospirosis presenting in a woman with fulminant hepatic failure from Wilson’s disease: a case report...

3p thulanh26 09-12-2011 45 2   Download