The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression

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 G...

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Detalhes bibliográficos
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: SP Birkhäuser Verlag Basel 2011
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3249196/
https://ncbi.nlm.nih.gov/pubmed/21667063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00018-011-0743-1
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