Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

Statin-Related Myotoxicity: A Comprehensive Review of Pharmacokinetic, Pharmacogenomic and Muscle Components

(2019) Richard Myles Turner et al.   Journal of Clinical Medicine

Atypical periodic paralysis and myalgia

(2018) Emma Matthews et al.   NEUROLOGY

Correlation of phenotype with genotype and protein structure in RYR1-related disorders

(2018) Joshua J. Todd et al.   JOURNAL OF NEUROLOGY

Amyloid β production is regulated by β2-adrenergic signaling-mediated post-translational modifications of the ryanodine receptor

(2017) Renaud Bussiere et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Antioxidant Treatment Reduces Formation of Structural Cores and Improves Muscle Function in RYR1Y522S/WT Mice

(2017) Antonio Michelucci et al.   Oxidative Medicine and Cellular Longevity

A chemical chaperone improves muscle function in mice with a RyR1 mutation

(2017) Chang Seok Lee et al.   Nature Communications

Structural Basis for Gating and Activation of RyR1

(2016) Amédée des Georges et al.   CELL

Leaky ryanodine receptors contribute to diaphragmatic weakness during mechanical ventilation

(2016) Stefan Matecki et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Review of RyR1 pathway and associated pathomechanisms

(2016) Jessica W. Witherspoon et al.   Acta Neuropathologica Communications

Excess TGF-β mediates muscle weakness associated with bone metastases in mice

(2015) David L Waning et al.   NATURE MEDICINE

Mitochondrial calcium overload is a key determinant in heart failure

(2015) Gaetano Santulli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mitochondrial oxidative stress promotes atrial fibrillation

(2015) Wenjun Xie et al.   Scientific Reports

Structure of a mammalian ryanodine receptor

(2014) Ran Zalk et al.   NATURE

Genetically enhancing mitochondrial antioxidant activity improves muscle function in aging

(2014) Alisa Umanskaya et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

(2013) Sissel Løseth et al.   JOURNAL OF NEUROLOGY

Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis

(2013) N. Dlamini et al.   NEUROMUSCULAR DISORDERS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin

(2013) Mark Knoblauch et al.   Skeletal Muscle

Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy

(2012) James J. Dowling et al.   BRAIN

Role of Leaky Neuronal Ryanodine Receptors in Stress- Induced Cognitive Dysfunction

(2012) Xiaoping Liu et al.   CELL

Leaky ryanodine receptors in β-sarcoglycan deficient mice: a potential common defect in muscular dystrophy

(2012) Daniel C Andersson et al.   Skeletal Muscle

Prevalence of congenital myopathies in a representative pediatric united states population

(2011) Kimberly Amburgey et al.   ANNALS OF NEUROLOGY

Ryanodine Receptor Oxidation Causes Intracellular Calcium Leak and Muscle Weakness in Aging

(2011) Daniel C. Andersson et al.   Cell Metabolism

Ryanodine receptor leak mediated by caspase-8 activation leads to left ventricular injury after myocardial ischemia-reperfusion

(2011) Jérémy Fauconnier et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role of chronic ryanodine receptor phosphorylation in heart failure and β-adrenergic receptor blockade in mice

(2010) Jian Shan et al.   JOURNAL OF CLINICAL INVESTIGATION

Hypernitrosylated ryanodine receptor calcium release channels are leaky in dystrophic muscle

(2009) Andrew M Bellinger et al.   NATURE MEDICINE

RyR1 S-Nitrosylation Underlies Environmental Heat Stroke and Sudden Death in Y522S RyR1 Knockin Mice

(2008) William J. Durham et al.   CELL

Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice

(2008) Stephan E. Lehnart et al.   JOURNAL OF CLINICAL INVESTIGATION

Remodeling of ryanodine receptor complex causes "leaky" channels: A molecular mechanism for decreased exercise capacity

(2008) A. M. Bellinger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA