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Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking

ATP7A is a P-type ATPase in which diverse mutations lead to X-linked recessive Menkes disease or occipital horn syndrome. Recently, two previously unknown ATP7A missense mutations, T994I and P1386S, were shown to cause an isolated distal motor neuropathy without clinical or biochemical features of o...

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Bibliografiske detaljer
Udgivet i:Hum Mol Genet
Main Authors: Yi, Ling, Kaler, Stephen G.
Format: Artigo
Sprog:Inglês
Udgivet: Oxford University Press 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4383858/
https://ncbi.nlm.nih.gov/pubmed/25574028
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv002
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