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Direct regulation of the cardiac ryanodine receptor (RyR2) by O-GlcNAcylation
BackgroundO-GlcNAcylation is the enzymatic addition of a sugar, O-linked β-N-Acetylglucosamine, to the serine and threonine residues of proteins, and...
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Defective cerebellar ryanodine receptor type 1 and endoplasmic reticulum calcium ‘leak’ in tremor pathophysiology
Essential Tremor (ET) is a prevalent neurological disease characterized by an 8–10 Hz action tremor. Molecular mechanisms of ET remain poorly...
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Unusual cause of muscle weakness, type II respiratory failure and pulmonary hypertension: a case report of ryanodine receptor type 1(RYR1)-related myopathy
BackgroundPatients with congenital myopathies may experience respiratory involvement, resulting in restrictive ventilatory dysfunction and...
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Cardiomyocyte Na+ and Ca2+ mishandling drives vicious cycle involving CaMKII, ROS, and ryanodine receptors
Cardiomyocyte Na + and Ca 2+ mishandling, upregulated Ca 2+ /calmodulin-dependent kinase II (CaMKII), and increased reactive oxygen species (ROS) are...
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Preclinical model systems of ryanodine receptor 1-related myopathies and malignant hyperthermia: a comprehensive sco** review of works published 1990–2019
BackgroundPathogenic variations in the gene encoding the skeletal muscle ryanodine receptor (RyR1) are associated with malignant hyperthermia (MH)...
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A de novo ryanodine receptor 2 gene variant in a case of sudden cardiac death
A 34-year-old man, who was previously fit and healthy, died suddenly on exercise. A post-mortem exam performed by forensic pathologists and a...
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Altered ryanodine receptor gene expression in Hirschsprung’s disease
Aim of the studyRyanodine receptors are the largest of all ion channels, named after their exogenous ligand, ryanodine. The ryanodine receptor...
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Remimazolam-based total intravenous anesthesia in a patient with a confirmed diagnosis of malignant hyperthermia: a case report
BackgroundMalignant hyperthermia (MH) is a rare, life-threatening disorder of calcium homeostasis in skeletal muscle cells that is triggered by...
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Genome-wide association study of dilated cardiomyopathy-induced heart failure associated with renal insufficiency in a Chinese population
BackgroundAs it is unclear whether there is genetic susceptibility to cardiorenal syndrome (CRS), we conducted a genome-wide association study of...
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Ginsenoside Rb1 reduces oxidative/carbonyl stress damage and dysfunction of RyR2 in the heart of streptozotocin-induced diabetic rats
BackgroundOxidative stress may contribute to cardiac ryanodine receptor (RyR2) dysfunction in diabetic cardiomyopathy. Ginsenoside Rb1 (Rb1) is a...
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Trans-cinnamaldehyde protects against phenylephrine-induced cardiomyocyte hypertrophy through the CaMKII/ERK pathway
BackgroundTrans-cinnamaldehyde (TCA) is one of the main pharmaceutical ingredients of Cinnamomum cassia Presl , which has been shown to have...
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Beneficial effects of dantrolene in the treatment of rhabdomyolysis as a potential late complication associated with COVID-19: a case report
BackgroundPatients with severe COVID-19 have disorders of the respiratory, cardiovascular, coagulation, skeletal muscle, and central nervous systems....
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Membrane remodelling triggers maturation of excitation–contraction coupling in 3D-shaped human-induced pluripotent stem cell-derived cardiomyocytes
The prospective use of human-induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CM) for cardiac regenerative medicine strongly depends on...
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Diagnosis of catecholaminergic polymorphic ventricular tachycardia during late adulthood due to a rare genetic variant in RYR2: a case report
BackgroundCatecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe hereditary channelopathy characterized by the presence of...
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Four calcium signaling pathway-related genes were upregulated in microcystic adnexal carcinoma: transcriptome analysis and immunohistochemical validation
BackgroundMicrocystic adnexal carcinoma (MAC) is a skin cancer with challenges in diagnosis and management. This study was aimed to detect molecular...
