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Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency

Store-operated Ca(2+) entry (SOCE) represents a predominant Ca(2+) influx pathway in non-excitable cells. SOCE is required for immune cell activation and is mediated by the plasma membrane (PM) channel ORAI1 and the endoplasmic reticulum (ER) Ca(2+) sensor STIM1. Mutations in the Orai1 or STIM1 gene...

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Detalles Bibliográficos
Autores principales: Yu, Fang, Agrebi, Nourhen, Mackeh, Rafah, Abouhazima, Khaled, KhudaBakhsh, Khadija, Adeli, Mehdi, Lo, Bernice, Hassan, Amel, Machaca, Khaled
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8249264/
https://www.ncbi.nlm.nih.gov/pubmed/33650027
http://dx.doi.org/10.1007/s10875-021-01004-8