Disease-causing point-mutations in metal-binding domains of Wilson disease protein decrease stability and increase structural dynamics

After cellular uptake, Copper (Cu) ions are transferred from the chaperone Atox1 to the Wilson disease protein (ATP7B) for incorporation into Cu-dependent enzymes in the secretory pathway. Human ATP7B is a large multi-domain membrane-spanning protein which, in contrast to homologues in other organis...

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Bibliographische Detailangaben
Veröffentlicht in:Biometals
Hauptverfasser: Kumar, Ranjeet, Ariöz, Candan, Li, Yaozong, Bosaeus, Niklas, Rocha, Sandra, Wittung-Stafshede, Pernilla
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer Netherlands 2016
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5285417/
https://ncbi.nlm.nih.gov/pubmed/27744583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10534-016-9976-7
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