Article
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression.
Cellular and molecular life sciences : CMLS - 1 Jan 2012
Vonk Willianne I M, de Bie Prim, Wichers Catharina G K, van den Berghe Peter V E, van der Plaats Rozemarijn, Berger Ruud, Wijmenga Cisca, Klomp Leo W J, van de Sluis Bart
Abstract excerpt
Menkes disease (MD) is an X-linked recessive disorder characterized by copper deficiency resulting in a diminished function of copper-dependent enzymes. Most MD patients die in early childhood, although mild forms of MD have also been described. A diversity of mutations in the gene encoding of the Golgi-resident copper-transporting P(1B)-type ATPase ATP7A underlies MD. To elucidate the molecular consequences of...
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