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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Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: SP Birkhäuser Verlag Basel 2011
Schlagworte:
Research Article
Online Zugang: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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