STIM1 Mutation Associated with a Syndrome of Immunodeficiency and Autoimmunity

A mutation in ORAI1, the gene encoding the pore-forming subunit of the Ca(2+)-release–activated Ca(2+) (CRAC) channel, abrogates the store-operated entry of Ca(2+) into cells and impairs lymphocyte activation. Stromal interaction molecule 1 (STIM1) in the endoplasmic reticulum activates ORAI1–CRAC c...

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Hauptverfasser: Picard, Capucine, McCarl, Christie-Ann, Papolos, Alexander, Khalil, Sara, Lüthy, Kevin, Hivroz, Claire, LeDeist, Francoise, Rieux-Laucat, Frédéric, Rechavi, Gideon, Rao, Anjana, Fischer, Alain, Feske, Stefan
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2009
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2851618/
https://ncbi.nlm.nih.gov/pubmed/19420366
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1056/NEJMoa0900082
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