ORAI1 mutations abolishing store-operated Ca<sup>2+</sup> entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
Lian, Jayson; Cuk, Mario; Kahlfuss, Sascha; Kozhaya, Lina; Vaeth, Martin; Rieux-Laucat, Frédéric; Picard, Capucine; Benson, Melina J; Jakovcevic, Antonia; Bilic, Karmen; Martinac, Iva; Stathopulos, Peter; Kacskovics, Imre; Vraetz, Thomas; Speckmann, Carsten; Ehl, Stephan; Issekutz, Thomas; Unutmaz, Derya; Feske, Stefan.
J Allergy Clin Immunol
; 142(4): 1297-1310.e11, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29155098
Mapping the functional anatomy of Orai1 transmembrane domains for CRAC channel gating.
The Orai1 Store-operated Calcium Channel Functions as a Hexamer.
Picomolar, selective, and subtype-specific small-molecule inhibition of TRPC1/4/5 channels.
Fine-tuning of store-operated calcium entry by fast and slow Ca<sup>2+</sup>-dependent inactivation: Involvement of SARAF.
Variable impairment of platelet functions in patients with severe, genetically linked immune deficiencies.
Calcium store refilling and STIM activation in STIM- and Orai-deficient cell lines.
Investigation of novel variations of ORAI1 gene and their association with Kawasaki disease.
Distinct gating mechanism of SOC channel involving STIM-Orai coupling and an intramolecular interaction of Orai in <i>Caenorhabditis elegans</i>.
Authentic CRAC channel activity requires STIM1 and the conserved portion of the Orai N terminus.
NFAT5-sensitive Orai1 expression and store-operated Ca<sup>2+</sup> entry in megakaryocytes.