Identification of a Novel Homozygous Multi-Exon Duplication in RYR2 Among Children With Exertion-Related Unexplained Sudden Deaths in the Amish Community.
Sign Up to like & getrecommendations! Published in 2020 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2019.5400
Abstract: Importance The exome molecular autopsy may elucidate a pathogenic substrate for sudden unexplained death. Objective To investigate the underlying cause of multiple sudden deaths in young individuals and sudden cardiac arrests that occurred in 2… read more here.
Keywords: duplication; ryr2; sudden cardiac; sudden deaths ... See more keywords
Ryanodine receptor 2 promotes colorectal cancer metastasis by the ROS/BACH1 axis
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Oncology"
DOI: 10.1002/1878-0261.13350
Abstract: There is no targeted therapy for KRAS proto‐oncogene, GTPase (KRAS)‐mutant metastatic colorectal cancer (mCRC) because the underlying mechanism remains obscure. Based on bioinformatic analysis, this study aims to elucidate a potential gene target for which… read more here.
Keywords: metastasis; ryanodine receptor; expression; colorectal cancer ... See more keywords
Increased RyR2 activity is exacerbated by calcium leak-induced mitochondrial ROS
Sign Up to like & getrecommendations! Published in 2020 at "Basic Research in Cardiology"
DOI: 10.1007/s00395-020-0797-z
Abstract: Cardiac disease is associated with deleterious emission of mitochondrial reactive oxygen species (mito-ROS), as well as enhanced oxidation and activity of the sarcoplasmic reticulum (SR) Ca 2+ release channel, the ryanodine receptor (RyR2). The transfer… read more here.
Keywords: mitochondrial ros; ryr2; ros emission; activity ... See more keywords
Sudden unexpected cardiac death and postmortem identification of a novel RYR2 gene mutation
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Legal Medicine"
DOI: 10.1007/s00414-019-02117-x
Abstract: A 13-year-old female was found lifeless at home. The autopsy and consecutive histological and toxicological examinations showed blood-rich and edematous lungs and foamy bloody content in the airways. No morphologic pathological findings were seen, especially… read more here.
Keywords: death; ryr2; postmortem; gene ... See more keywords
LPP and RYR2 Gene Polymorphisms Correlate with the Risk and the Prognosis of Astrocytoma
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Molecular Neuroscience"
DOI: 10.1007/s12031-019-01391-z
Abstract: Astrocytoma is the most common neuroepithelial tumor. Genetic factors play an important role in the development and prognosis of astrocytoma. So this study focuses on the impact of LPP and RYR2 genes on the occurrence… read more here.
Keywords: astrocytoma; ryr2; genotype; gene ... See more keywords
Mutation in RyR2-FKBP Binding site alters Ca2+ signaling modestly but increases "arrhythmogenesis" in human stem cells derived cardiomyocytes.
Sign Up to like & getrecommendations! Published in 2021 at "Cell calcium"
DOI: 10.1016/j.ceca.2021.102500
Abstract: AIMS To gain insights into FKBP regulation of cardiac ryanodine receptor (RyR2) and Ca2+ signaling, we introduced the point mutation (N771D-RyR2) corresponding to skeletal muscle mutation (N760D-RyR1) associated with central core disease (CCD) via CRISPR/Cas9… read more here.
Keywords: ryr2 fkbp; ryr2; ca2 signaling; ca2 ... See more keywords
Matrine alleviates AGEs‐ induced cardiac dysfunctions by attenuating calcium overload via reducing ryanodine receptor 2 activity
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Pharmacology"
DOI: 10.1016/j.ejphar.2018.10.010
Abstract: Abstract Featured by heart dysfunction, the diabetic cardiomyopathy is causing mortality and morbidity in type 2 diabetes mellitus patients. Matrine was considered as a cardioprotective agent. This study was aimed to investigate the therapeutic effects… read more here.
Keywords: induced cardiac; ages induced; cardiac dysfunctions; ryr2 ... See more keywords
Sudden death after inappropriate shocks of implantable cardioverter defibrillator in a catecholaminergic polymorphic ventricular tachycardia case with a novel RyR2 mutation.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of electrocardiology"
DOI: 10.1016/j.jelectrocard.2021.09.015
Abstract: BACKGROUND Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic syndrome and a cause of exercise-related sudden death. CPVT has been reported to be caused by gain of function underlying a mutation of cardiac ryanodine… read more here.
Keywords: sudden death; ryr2 mutation; ryr2; catecholaminergic polymorphic ... See more keywords
Nuclear translocation of calmodulin in pathological cardiac hypertrophy originates from ryanodine receptor bound calmodulin.
Sign Up to like & getrecommendations! Published in 2018 at "Journal of molecular and cellular cardiology"
DOI: 10.1016/j.yjmcc.2018.10.011
Abstract: In cardiac myocytes Calmodulin (CaM) bound to the ryanodine receptor (RyR2) constitutes a large pool of total myocyte CaM, but the CaM-RyR2 affinity is reduced in pathological conditions. Knock-in mice expressing RyR2 unable to bind… read more here.
Keywords: cam; nuclear cam; ryr2; pathological cardiac ... See more keywords
Rieske iron-sulfur protein induces FKBP12.6/RyR2 complex remodeling and subsequent pulmonary hypertension through NF-κB/cyclin D1 pathway
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DOI: 10.1038/s41467-020-17314-1
Abstract: Ca2+ signaling in pulmonary arterial smooth muscle cells (PASMCs) plays an important role in pulmonary hypertension (PH). However, the underlying specific ion channel mechanisms remain largely unknown. Here, we report ryanodine receptor (RyR) channel activity… read more here.
Keywords: protein; pulmonary hypertension; iron sulfur; ryr2 ... See more keywords
Promiscuous attraction of ligands within the ATP binding site of RyR2 promotes diverse gating behaviour
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DOI: 10.1038/s41598-018-33328-8
Abstract: ATP is an essential constitutive regulator of cardiac ryanodine receptors (RyR2), enabling small changes in cytosolic Ca2+ to trigger large changes in channel activity. With recent landmark determinations of the full structures of RyR1 (skeletal… read more here.
Keywords: binding site; ryr2; atp binding; promiscuous attraction ... See more keywords