Article
Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein.
Proceedings of the National Academy of Sciences of the United States of America - 29 Mar 2011
Gupta Arnab, Bhattacharjee Ashima, Dmitriev Oleg Y, Nokhrin Sergiy, Braiterman Lelita, Hubbard Ann L, Lutsenko Svetlana
Abstract excerpt
In human disorders, the genotype-phenotype relationships are often complex and influenced by genetic and/or environmental factors. Wilson disease (WD) is a monogenic disorder caused by mutations in the copper-transporting P-type ATPase ATP7B. WD shows significant phenotypic diversity even in patients carrying identical mutations; the basis for such diverse manifestations is unknown. We demonstrate that the...
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