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Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy

ATP7A is a P-type ATPase that regulates cellular copper homeostasis by activity at the trans-Golgi network (TGN) and plasma membrane (PM), with the location normally governed by intracellular copper concentration. Defects in ATP7A lead to Menkes disease or its milder variant, occipital horn syndrome...

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Autors principals: Yi, Ling, Donsante, Anthony, Kennerson, Marina L., Mercer, Julian F.B., Garbern, James Y., Kaler, Stephen G.
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2012
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3313796/
https://ncbi.nlm.nih.gov/pubmed/22210628
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddr612
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