EROS mutations: decreased NADPH oxidase function and chronic granulomatous disease

We demonstrate for the first time that EROS (CYBC1/C17ORF62) regulates abundance of the gp91phox-p22phox heterodimer of the phagocyte NADPH oxidase in human cells and that EROS mutations are a novel cause of chronic granulomatous disease.

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Detalhes bibliográficos
Publicado no:J Allergy Clin Immunol
Main Authors: Thomas, David C., Charbonnier, Louis-Marie, Schejtman, Andrea, Aldhekri, Hasan, Coomber, Eve L., Dufficy, Elizabeth R., Beenken, Anne E., Lee, James C., Clare, Simon, Speak, Anneliese O., Thrasher, Adrian J., Santilli, Giorgia, Al-Mousa, Hamoud, Alkuraya, Fowzan S., Chatila, Talal A., Smith, Kenneth G.C.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6490677/
https://ncbi.nlm.nih.gov/pubmed/30312704
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2018.09.019
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