دورية أكاديمية
Putative malignant hyperthermia mutation Ca V 1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance.
العنوان: | Putative malignant hyperthermia mutation Ca |
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المؤلفون: | Feng W; Department of Molecular Biosciences, University of California Davis, Davis, California, USA., Lopez JR; Department of Molecular Biosciences, University of California Davis, Davis, California, USA; Department of Research, Mount Sinai Medical Center, Miami Beach, Florida, USA., Antrobus S; Department of Molecular Biosciences, University of California Davis, Davis, California, USA., Zheng J; Department of Molecular Biosciences, University of California Davis, Davis, California, USA., Uryash A; Department of Research, Mount Sinai Medical Center, Miami Beach, Florida, USA., Dong Y; Department of Molecular Biosciences, University of California Davis, Davis, California, USA., Beqollari D; Department of Medicine-Cardiology Division, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Bannister RA; Department of Medicine-Cardiology Division, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Hopkins PM; Institute of Medical Research at St James's, University of Leeds, Leeds, United Kingdom., Beam KG; Department of Physiology and Biophysics, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA., Allen PD; Department of Molecular Biosciences, University of California Davis, Davis, California, USA; Institute of Medical Research at St James's, University of Leeds, Leeds, United Kingdom., Pessah IN; Department of Molecular Biosciences, University of California Davis, Davis, California, USA. Electronic address: inpessah@ucdavis.edu. |
المصدر: | The Journal of biological chemistry [J Biol Chem] 2023 Aug; Vol. 299 (8), pp. 104992. Date of Electronic Publication: 2023 Jun 29. |
نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural |
اللغة: | English |
بيانات الدورية: | Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE |
أسماء مطبوعة: | Publication: 2021- : [New York, NY] : Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Original Publication: Baltimore, MD : American Society for Biochemistry and Molecular Biology |
مواضيع طبية MeSH: | Halothane*/pharmacology , Heat-Shock Response*/genetics , Malignant Hyperthermia*/genetics , Malignant Hyperthermia*/metabolism , Malignant Hyperthermia*/pathology , Large-Conductance Calcium-Activated Potassium Channel alpha Subunits*/genetics, Animals ; Mice ; Calcium/metabolism ; Muscle, Skeletal/metabolism ; Mutation ; Ryanodine Receptor Calcium Release Channel/genetics ; Ryanodine Receptor Calcium Release Channel/metabolism |
مستخلص: | Malignant hyperthermia susceptibility (MHS) is an autosomal dominant pharmacogenetic disorder that manifests as a hypermetabolic state when carriers are exposed to halogenated volatile anesthetics or depolarizing muscle relaxants. In animals, heat stress intolerance is also observed. MHS is linked to over 40 variants in RYR1 that are classified as pathogenic for diagnostic purposes. More recently, a few rare variants linked to the MHS phenotype have been reported in CACNA1S, which encodes the voltage-activated Ca 2+ channel Ca Competing Interests: Conflict of interest This work was prepared while R. A. B. was employed at the University of Colorado Anschutz Medical Campus. The authors declare that they have no conflicts of interest with the contents of this article. (Copyright © 2023 The Authors. Published by Elsevier Inc. All rights reserved.) |
معلومات مُعتمدة: | P01 AR052354 United States AR NIAMS NIH HHS |
فهرسة مساهمة: | Keywords: TRPC3/6; heat stress intolerance; knock-in mouse; malignant hyperthermia susceptibility; muscle diseases; ryanodine receptor; voltage-activated Ca(2+) channels |
المشرفين على المادة: | SY7Q814VUP (Calcium) UQT9G45D1P (Halothane) 0 (Ryanodine Receptor Calcium Release Channel) 0 (Kcnma1 protein, rat) 0 (Large-Conductance Calcium-Activated Potassium Channel alpha Subunits) |
تواريخ الأحداث: | Date Created: 20230701 Date Completed: 20230831 Latest Revision: 20230906 |
رمز التحديث: | 20230906 |
مُعرف محوري في PubMed: | PMC10413282 |
DOI: | 10.1016/j.jbc.2023.104992 |
PMID: | 37392848 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1083-351X |
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DOI: | 10.1016/j.jbc.2023.104992 |