Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B. [electronic resource]
- Gastroenterology Oct 2007
- 1316-26 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0016-5085
10.1053/j.gastro.2007.07.020 doi
Adaptor Proteins, Signal Transducing Adenosine Triphosphatases--chemistry Binding Sites Carrier Proteins--metabolism Cation Transport Proteins--chemistry Cell Line, Tumor Copper--metabolism Copper Transport Proteins Copper-Transporting ATPases Endoplasmic Reticulum--metabolism Genetic Predisposition to Disease Hepatocytes--enzymology Hepatolenticular Degeneration--genetics Homeostasis Humans Metallochaperones Molecular Chaperones--genetics Mutation Peptide Hydrolases--metabolism Protein Binding Protein Structure, Tertiary Protein Transport RNA Interference RNA, Small Interfering--metabolism Recombinant Fusion Proteins--metabolism Transfection