Associated Papers
The Clinical, Histological, and Genetic Spectrum of RYR1 Variants-A Multi-Center Israeli Cohort Study.
Ginsberg M et al.
Journal of Clinical Medicine, 2026
Mitochondrial bioenergetics and intracellular calcium concentration in primary myotubes from mouse models of malignant hyperthermia.
Kaura V et al.
British Journal of Anaesthesia, 2026
Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation.
Weninger G et al.
The Journal of Clinical Investigation, 2025
Ca2+, ROS, IL-6, and p38 MAPK signaling loops underlying alterations in myotube formation induced by a severe MH/CCD mutation in RyR1.
Valle-Clara M et al.
American Journal of Physiology. Cell Physiology, 2025
OXPHOS complex deficiency in congenital myopathy: A systematic review.
du Preez MJ et al.
European Journal of Clinical Investigation, 2025
Phosphorylation of RYR1 at Ser2902 decreases Ca2+ leak in skeletal muscle and susceptibility to malignant hyperthermia and heat stroke.
Yee RSZ et al.
Science Signaling, 2025
Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.
Melka M et al.
Journal of Neuromuscular Diseases, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Beyond Hotspots: Functional Characterization of the Novel p.Asp2730Tyr Mutation in RYR1 Associated With Malignant Hyperthermia.
Yu Y et al.
Anesthesia and Analgesia, 2025
Obstetric and gynaecological features in females carrying variants in the skeletal muscle ryanodine receptor type 1 (RYR1) gene: a questionnaire study.
Mistry AM et al.
Neuromuscular Disorders : Nmd, 2025
Dantrolene inhibition of ryanodine receptor 1 carrying the severe malignant hyperthermia mutation Y522S visualized by cryo-EM.
Iyer KA et al.
Structure (london, England : 1993), 2025
Clinical impact of pharmacogenomics in pediatric care: insights extracted from clinical exome sequencing.
Maggo S et al.
Frontiers in Genetics, 2025
Complementary Roles of Structure and Variant Effect Predictors in RyR1 Clinical Interpretation.
Hernández Trapero R et al.
Human Mutation, 2025
Ca2+ signaling of pancreatic acinar cells in malignant hyperthermia susceptibility.
Geyer N et al.
Pancreatology : Official Journal of the International Association of Pancreatology (iap) ... [et Al.], 2024
Myopathic manifestations across the adult lifespan of patients with malignant hyperthermia susceptibility: a narrative review.
Ibarra Moreno CA et al.
British Journal of Anaesthesia, 2024
Dual role of the S5 segment in type 1 ryanodine receptor channel gating.
Murayama T et al.
Communications Biology, 2024
Structural basis for ryanodine receptor type 2 leak in heart failure and arrhythmogenic disorders.
Miotto MC et al.
Nature Communications, 2024
Contradiction in Star-Allele Nomenclature of Pharmacogenes between Common Haplotypes and Rare Variants.
Ahn SH et al.
Genes, 2024
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase one, open-label, dose-escalation trial.
Todd JJ et al.
Eclinicalmedicine, 2024
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations.
Sonne A et al.
Acta Physiologica (oxford, England), 2023
One case of congenital myopathy caused by new mutation of RYR1 gene and literature review.
Deng Q et al.
Gene, 2023
Putative malignant hyperthermia mutation CaV1.1-R174W is insufficient to trigger a fulminant response to halothane or confer heat stress intolerance.
Feng W et al.
The Journal of Biological Chemistry, 2023
A review of major causative genes in congenital myopathies.
Ogasawara M et al.
Journal of Human Genetics, 2023
Three-dimensional perspective on ryanodine receptor mutations causing skeletal and cardiac muscle-related diseases.
Iyer KA et al.
Current Opinion in Pharmacology, 2023
Mice with R2509C-RYR1 mutation exhibit dysfunctional Ca2+ dynamics in primary skeletal myocytes.
Tsuboi Y et al.
The Journal of General Physiology, 2022
Oxidation alters myosin-actin interaction and force generation in skeletal muscle filaments.
Elkrief D et al.
American Journal of Physiology. Cell Physiology, 2022
Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies.
Rossi D et al.
The Journal of General Physiology, 2022
Heat-hypersensitive mutants of ryanodine receptor type 1 revealed by microscopic heating.
Oyama K et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
Oxygen Consumption and Basal Metabolic Rate as Markers of Susceptibility to Malignant Hyperthermia and Heat Stroke.
Serano M et al.
Cells, 2022
Pre-operative exercise and pyrexia as modifying factors in malignant hyperthermia (MH).
Riazi S et al.
Neuromuscular Disorders : Nmd, 2022
Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM.
Iyer KA et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
The role of junctophilin proteins in cellular function.
Lehnart SE et al.
Physiological Reviews, 2022
Clinical pharmacogenetic analysis in 5,001 individuals with diagnostic Exome Sequencing data.
Lanillos J et al.
Npj Genomic Medicine, 2022
The neuromuscular and multisystem features of RYR1-related malignant hyperthermia and rhabdomyolysis: A study protocol.
van den Bersselaar LR et al.
Medicine, 2021
A novel RyR1-selective inhibitor prevents and rescues sudden death in mouse models of malignant hyperthermia and heat stroke.
Yamazawa T et al.
Nature Communications, 2021
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Functional Characterization of Endogenously Expressed Human RYR1 Variants.
Treves S et al.
Journal of Visualized Experiments : Jove, 2021
Untargeted metabolomics profiling of skeletal muscle samples from malignant hyperthermia susceptible patients.
Bojko B et al.
Canadian Journal of Anaesthesia = Journal Canadien D'anesthesie, 2021
Ryanodine receptor remodeling in cardiomyopathy and muscular dystrophy caused by lamin A/C gene mutation.
Dridi H et al.
Human Molecular Genetics, 2021
Actionable pharmacogenetic variants in Hong Kong Chinese exome sequencing data and projected prescription impact in the Hong Kong population.
Yu MHC et al.
Plos Genetics, 2021
T lymphocytes from malignant hyperthermia-susceptible mice display aberrations in intracellular calcium signaling and mitochondrial function.
Yang L et al.
Cell Calcium, 2021
Early Findings in Neonatal Cases of RYR1-Related Congenital Myopathies.
Mauri E et al.
Frontiers in Neurology, 2021
Evaluation of the Core Formation Process in Congenital Neuromuscular Disease With Uniform Type 1 Fiber and Central Core Disease.
Ogasawara M et al.
Journal of Neuropathology and Experimental Neurology, 2020
Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature.
Lawal TA et al.
Skeletal Muscle, 2020
In vivo RyR1 reduction in muscle triggers a core-like myopathy.
Pelletier L et al.
Acta Neuropathologica Communications, 2020
Bioenergetic defects in muscle fibers of RYR1 mutant knock-in mice associated with malignant hyperthermia.
Chang L et al.
The Journal of Biological Chemistry, 2020