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...

Description complète

Enregistré dans:
Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: SP Birkhäuser Verlag Basel 2011
Sujets:
Research Article
Accès en ligne: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
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires