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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Bibliografiska uppgifter
I publikationen:J Allergy Clin Immunol
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2018
Ämnen:
Article
Länkar: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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