Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype

Host defense and inflammation are regulated by the NF-κB essential modulator (NEMO), a scaffolding protein with a broad immune cell and tissue expression profile. Hypomorphic mutations in inhibitor of NF-κB kinase regulatory subunit gamma (IKBKG) encoding NEMO typically present with immunodeficiency...

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Detalles Bibliográficos
Autores principales: Lee, Younglang, Wessel, Alex W., Xu, Jiazhi, Reinke, Julia G., Lee, Eries, Kim, Somin M., Hsu, Amy P., Zilberman-Rudenko, Jevgenia, Cao, Sha, Enos, Clinton, Brooks, Stephen R., Deng, Zuoming, Lin, Bin, de Jesus, Adriana A., Hupalo, Daniel N., Piotto, Daniela G.P., Terreri, Maria T., Dimitriades, Victoria R., Dalgard, Clifton L., Holland, Steven M., Goldbach-Mansky, Raphaela, Siegel, Richard M., Hanson, Eric P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8920334/
https://www.ncbi.nlm.nih.gov/pubmed/35289316
http://dx.doi.org/10.1172/JCI128808

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