Results 161 to 170 of about 11,986 (188)
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How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators
Cell Calcium, 2021New electron cryomicroscopy structures of RYR1 show that mutations associated with Malignant Hyperthermia drive conformational changes in the cytoplasmic domains of the closed channel to more closely resemble those of the open channel.
Matthew L. Baker +2 more
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International Journal of Molecular SciencesRyR1-related myopathies (RyR1-RMs) include a wide range of genetic disorders that result from mutations in the RYR1 gene. Pathogenic variants lead to defective intracellular calcium homeostasis and muscle dysfunction.
Geoffrey CANET +2 more
exaly +3 more sources
RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling [PDF]
Human Mutation, 2013 In skeletal muscle, excitation-contraction (EC) coupling is the process whereby the voltage-gated dihydropyridine receptor (DHPR) located on the transverse tubules activates calcium release from the sarcoplasmic reticulum by activating ryanodine receptor
Jo M Wilmshurst +2 more
exaly +3 more sources
Gene therapies for RyR1-related myopathies
Current Opinion in Pharmacology, 2023Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because of the very large size of the gene and protein, and of the distribution of variations all along the sequence. Taking advantage of the progress made in the gene therapy field, different approaches can be applied to the ...
Marty, Isabelle +3 more
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RyR1 Modulation by Oxidation and Calmodulin
Antioxidants & Redox Signaling, 2000Alteration of skeletal muscle function by reactive oxygen species and nitric oxide (NO) may involve regulation of the activity of the skeletal muscle Ca2+ release channel (also known as RyR1). We have shown that oxidants can activate RyR1 and produce inter-subunit disulfide bonds.
S L, Hamilton, M B, Reid
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Update on RYR1-related myopathies
Current Opinion in NeurologyPurpose of review RYR1-related myopathy (RYR1-RM) is a group of myopathies caused by mutations in the RYR1 gene, which encodes the ryanodine receptor 1 (RYR1). This review discusses recent advances in the clinical features, pathology, pathogenesis, and therapeutics of RYR1-RM. Recent findings
Masashi, Ogasawara, Ichizo, Nishino
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Structural Characterization of the RyR1–FKBP12 Interaction
Journal of Molecular Biology, 2006The 12 kDa FK506-binding protein (FKBP12) constitutively binds to the calcium release channel RyR1. Removal of FKBP12 using FK506 or rapamycin causes an increased open probability and an increase in the frequency of sub-conductance states in RyR1. Using cryo-electron microscopy and single-particle image processing, we have determined the 3D difference ...
Montserrat, Samsó +2 more
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Allosteric modulation of ryanodine receptor RyR1 by nucleotide derivatives
Structure, 2023Alison M Berezuk +2 more
exaly