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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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Biometals
Prif Awduron: Kumar, Ranjeet, Ariöz, Candan, Li, Yaozong, Bosaeus, Niklas, Rocha, Sandra, Wittung-Stafshede, Pernilla
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Springer Netherlands 2016
Pynciau:
Mynediad Ar-lein: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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