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Article

The Orai1 Severe Combined Immune Deficiency Mutation and Calcium Release-activated Ca2+ Channel Function in the Heterozygous Condition

16 Dec 2008

Abstract excerpt

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., Srikanth, S., Puppel, S. H., Tanasa, B., Hogan, P. G., Lewis, R. S., Daly, M., and Rao, A. (2006) Nature 441,...

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Identifiers

PMID: 19075015
DOI: 10.1074/jbc.m808346200

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The Orai1 Severe Combined Immune Deficiency Mutation and Calcium Release-activated Ca2+ Channel Function in the Heterozygous ConditionPMID 19075015Read ↗

A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.Semantic proximity Read ↗

Novel ORAI1 Mutation Disrupts Channel Trafficking Resulting in Combined Immunodeficiency.Semantic proximity Read ↗

The many faces of Orai1 dysfunction: Molecular mechanisms and clinical manifestations.Semantic proximity Read ↗

Molecular identification of the CRAC channel by altered ion selectivity in a mutant of Orai.Semantic proximity Read ↗

CRAC channel opening is determined by a series of Orai1 gating checkpoints in the transmembrane and cytosolic regions.Semantic proximity Read ↗

Store-operated Ca2+ entry through ORAI1 is critical for T cell-mediated autoimmunity and allograft rejection.Semantic proximity Read ↗

Orai1 is an essential pore subunit of the CRAC channel.Semantic proximity Read ↗

Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1.Semantic proximity Read ↗

Orai1 mutations alter ion permeation and Ca2+-dependent fast inactivation of CRAC channels: evidence for coupling of permeation and gating.Semantic proximity Read ↗

Biallelic mutations in calcium release activated channel regulator 2A (CRACR2A) cause a primary immunodeficiency disorder.Semantic proximity Read ↗

Physiological CRAC channel activation and pore properties require STIM1 binding to all six Orai1 subunits.Semantic proximity Read ↗

Immunodeficiency due to defects in store-operated calcium entry.Semantic proximity Read ↗

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