Gain of function of the immune system caused by a ryanodine receptor 1 mutation 1 2
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چکیده
1 Gain of function of the immune system caused by a ryanodine receptor 1 mutation 1 2 Mirko Vukcevic, Francesco Zorzato, Simone Keck, Dimitrios A. Tsakiris, Jennifer 3 Keiser, Rick M. Maizels and Susan Treves 4 5 Departments of Anaesthesia and Biomedicine, Basel University Hospital, Hebelstrasse 6 20, 4031 Basel, Switzerland; Department of Life Sciences and Biotechnology, 7 University of Ferrara, Ferrara, Italy; Laboratory of Transplantation Immunology, 8 Departments of Biomedicine and Nephrology, University Hospital Basel and University 9 of Basel, Hebelstrasse 20, CH-4031 Basel; Department of Haematology, University 10 Hospital Basel, CH-4031 Basel, Switzerland; Department of Epidemiology and Public 11 Health, Swiss Tropical and Public Health Institute, PO Box, CH-4002 Basel, 12 Switzerland; Institute of Immunology and Infection Research, University of Edinburgh, 13 West Mains Road, Edinburgh EH9 3JT, U.K. 14 15 Running title: A RYR1 mutation enhances the immune response. 16 17 To whom correspondence should be addressed: 18 Susan Treves, 19 Departments of Anaesthesia and Research, Basel University Hospital, 20 Hebelstrasse 20, 4031 Basel, Switzerland. 21 Tel: +41612652373; Fax: +41612653702; 22 E-mail: [email protected] 23 24 Key words: Ryanodine receptor, mutation, dendritc cells, immune system. 25 26 © 2013. Published by The Company of Biologists Ltd.
منابع مشابه
Gain of function in the immune system caused by a ryanodine receptor 1 mutation.
Mutations in RYR1, the gene encoding ryanodine receptor 1, are linked to a variety of neuromuscular disorders including malignant hyperthermia (MH), a pharmacogenetic hypermetabolic disease caused by dysregulation of Ca(2+) in skeletal muscle. RYR1 encodes a Ca(2+) channel that is predominantly expressed in skeletal muscle sarcoplasmic reticulum, where it is involved in releasing the Ca(2+) nec...
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Mutations in ryanodine receptor 2 (RYR2) gene can cause catecholaminergic polymorphic ventricular tachycardia (CPVT). The novel RYR2-S4153R mutation has been implicated as a cause of CPVT and atrial fibrillation. The mutation has been functionally characterized via store-overload-induced Ca(2+) release (SOICR) and tritium-labelled ryanodine ([(3)H]ryanodine) binding assays. The S4153R mutation ...
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