Article
Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.
Proceedings of the National Academy of Sciences of the United States of America - 8 Apr 2014
Braiterman Lelita T, Murthy Amrutha, Jayakanthan Samuel, Nyasae Lydia, Tzeng Eric, Gromadzka Grazyna, Woolf Thomas B, Lutsenko Svetlana, Hubbard Ann L
Abstract excerpt
Wilson disease (WD) is a monogenic autosomal-recessive disorder of copper accumulation that leads to liver failure and/or neurological deficits. WD is caused by mutations in ATP7B, a transporter that loads Cu(I) onto newly synthesized cupro-enzymes in the trans-Golgi network (TGN) and exports excess copper out of cells by trafficking from the TGN to the plasma membrane. To date, most WD mutations have been shown...
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