The Orai1 Severe Combined Immune Deficiency Mutation and Calcium Release-activated Ca(2+) Channel Function in the Heterozygous Condition

Homozygous expression of Orai1 bearing the R91W mutation results in the complete abrogation of currents through the store-operated Ca(2+) release-activated Ca(2+) (CRAC) channels, resulting in a form of hereditary severe combined immune deficiency (SCID) syndrome (Feske, S., Gwack, Y., Prakriya, M.,...

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Bibliographic Details
Main Authors: Thompson, Jill L., Mignen, Olivier, Shuttleworth, Trevor J.
Format: Artigo
Language:Inglês
Published: American Society for Biochemistry and Molecular Biology 2009
Subjects:
Mechanisms of Signal Transduction
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2652263/
https://ncbi.nlm.nih.gov/pubmed/19075015
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M808346200
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