Functional Defects in Six Ryanodine Receptor Isoform-1 (RyR1) Mutations Associated with Malignant Hyperthermia and Their Impact on Skeletal Excitation-Contraction Coupling
Open Access
- 1 July 2003
- journal article
- Published by Elsevier
- Vol. 278 (28) , 25722-25730
- https://doi.org/10.1074/jbc.m302165200
Abstract
No abstract availableKeywords
This publication has 42 references indexed in Scilit:
- Phenotyping malignant hyperthermia susceptibility by measuring halothane-induced changes in myoplasmic calcium concentration in cultured human skeletal muscle cellsBritish Journal of Anaesthesia, 2002
- Malignant Hyperthermia: A Pharmacogenetic Disease of Ca++ Regulating ProteinsCurrent Molecular Medicine, 2002
- Novel Mutations in C-terminal Channel Region of the Ryanodine Receptor in Malignant Hyperthermia PatientsThe Japanese Journal of Pharmacology, 2002
- Ryanodine receptor mutations in malignant hyperthermia and central core diseaseHuman Mutation, 2000
- Malignant hyperthermia causing Gly2435Arg mutation of the ryanodine receptor facilitates ryanodine-induced calcium release in myotubesBritish Journal of Anaesthesia, 1999
- Caffeine and Halothane Sensitivity of Intracellular Ca2+ Release Is Altered by 15 Calcium Release Channel (Ryanodine Receptor) Mutations Associated with Malignant Hyperthermia and/or Central Core DiseaseJournal of Biological Chemistry, 1997
- Alteration of intracellular Ca2+ transients in COS-7 cells transfected with the cDNA encoding skeletal-muscle ryanodine receptor carrying a mutation associated with malignant hyperthermiaBiochemical Journal, 1994
- A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermiaGenomics, 1991
- Identification of a Mutation in Porcine Ryanodine Receptor Associated with Malignant HyperthermiaScience, 1991
- Abnormal ryanodine receptor channels in malignant hyperthermiaBiophysical Journal, 1990