Results 11 to 20 of about 11,986 (188)

Structure of RyR1 in native membranes [PDF]

The EMBO Reports, 2020
Ryanodine receptor 1 (RyR1) mediates excitation-contraction coupling by releasing Ca2+ from sarcoplasmic reticulum (SR) to the cytoplasm of skeletal muscle cells.
Chen, Wenbo, Kudryashev, M., Wenbo Chen, Kudryashev, M. ; https://orcid.org/, Chen, W., Kudryashev, Mikhail, Mikhail Kudryashev   +6 more
core   +6 more sources

Pancreatitis in RYR1-related disorders [PDF]

Neuromuscular Disorders, 2023
Mutations in RYR1 encoding the ryanodine receptor (RyR) skeletal muscle isoform (RyR1) are a common cause of inherited neuromuscular disorders. Despite its expression in a wide range of tissues, non-skeletal muscle manifestations associated with RYR1 ...
Kyrana, Eirini; id_orcid, Tribe, Rachel M.; id_orcid, Kyrana, Eirini, Tracey Willis, Voermans, Nicol, Jungbluth, Heinz; id_orcid, Julia Gerasimenko, Eirini Kyrana, Mistry, Arti, Nicol Voermans, Dhawan, Anil, Anil Dhawan, Gerasimenko, Julia, Tribe, Rachel M., Rachel M. Tribe, Michael F. Goldberg, Willis, Tracey, Oleg Gerasimenko, Arti Mistry, Famili, Dennis T., Dennis T. Famili, Jungbluth, Heinz, Gerasimenko, Oleg, Goldberg, Michael F., Mistry, Arti; id_orcid, Heinz Jungbluth   +25 more
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Distinct Components of Retrograde CaV1.1-RyR1 Coupling Revealed by a Lethal Mutation in RyR1 [PDF]

Biophysical Journal, 2016
The molecular basis for excitation-contraction coupling in skeletal muscle is generally thought to involve conformational coupling between the L-type voltage-gated Ca2+ channel (CaV1.1) and the type 1 ryanodine receptor (RyR1).
Sheridan, David
core   +5 more sources

Functional characterization of a Central Core Disease RyR1 mutation (p.Y4864H) associated with quantitative defect in RyR1 protein [PDF]

Journal of Neuromuscular Diseases, 2015
International audienceBACKGROUND: Central Core Disease (CCD) is a congenital myopathy often resulting from a mutation in RYR1 gene. Mutations in RyR1 can increase or decrease channel activity, or induce a reduction in the amount of protein.
Marty, Isabelle, Brocard, Julie, Cacheux, Marine, Lacour, Arnaud, Rendu, John, Krivosic, Renée, Allen, Paul, Mamchaoui, Kamel, Blum, Ariane, Lunardi, Joël, Roux-Buisson, Nathalie, Sébastien, Muriel, Mouly, Vincent, Fauré, Julien, Monnier, Nicole   +14 more
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Variable myopathic presentation in a single family with novel skeletal RYR1 mutation. [PDF]

PLoS ONE, 2013
We describe an autosomal recessive heterogeneous congenital myopathy in a large consanguineous family. The disease is characterized by variable severity, progressive course in 3 of 4 patients, myopathic face without ophthalmoplegia and proximal muscle ...
Ruben Attali, Sharon Aharoni, Susan Treves, Ori Rokach, Michal Becker Cohen, Yakov Fellig, Rachel Straussberg, Talya Dor, Muhannad Daana, Stella Mitrani-Rosenbaum, Yoram Nevo   +10 more
doaj   +3 more sources

NAD+ dyshomeostasis in RYR1-related myopathies

Skeletal Muscle
Background Pathogenic variants in RYR1 cause a spectrum of rare congenital myopathies associated with intracellular calcium dysregulation. Glutathione redox imbalance has been reported in several Ryr1 disease model systems and clinical studies.
Joshua J. Todd, Sinaii, Ninet, Irene C. Chrismer, Riekhof, Willa, Euro, Liliya, Xiang, Lichen, Mohassel, Payam, Chrismer, Irene C, Lichen Xiang, Lawal, Tokunbor A, Tokunbor A. Lawal, Groom, Linda, Angela Kokkinis, Christopher Grunseich, Payam Mohassel, Pooja Varma, Robert T. Dirksen, Buzkova, Jana, Meilleur, Katherine G, Linda Groom, Katherine G. Meilleur, Willa Riekhof, Grunseich, Christopher, Witherspoon, Jessica W, Ninet Sinaii, Jana Buzkova, Liliya Euro, Jessica W. Witherspoon, Muslima S. Razaqyar, Razaqyar, Muslima S, Kokkinis, Angela, et al., Varma, Pooja   +32 more
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RyR1 S-Nitrosylation Underlies Environmental Heat Stroke and Sudden Death in Y522S RyR1 Knockin Mice [PDF]

Cell, 2008
SummaryMice with a malignant hyperthermia mutation (Y522S) in the ryanodine receptor (RyR1) display muscle contractures, rhabdomyolysis, and death in response to elevated environmental temperatures.
Baker, Mariah R., Shirokova, Natalia, Durham, William J., Galvan, Daniel L., Gilman, Charles P., Long, Cheng, Goonasekera, Sanjeewa A., Boncompagni, Simona, Rossi, Ann E., Protasi, Feliciano, Aracena-Parks, Paula, Hamilton, Susan L., Dirksen, Robert   +12 more
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Complex Actions of FKBP12 on RyR1 Ion Channel Activity Consistent with Negative Co-Operativity in FKBP12 Binding to the RyR1 Tetramer

Cells
The association of the 12 KDa FK506 binding protein (FKBP12) with ryanodine receptor type 1 (RyR1) in skeletal muscle is thought to suppress RyR1 channel opening and contribute to healthy muscle function. The strongest evidence for this role is increased
Spencer J. Richardson, Chris G. Thekkedam, Marco G. Casarotto, Nicole A. Beard, Angela F. Dulhunty   +4 more
doaj   +2 more sources

Treatmentsfor RYR1-related disorders (Protocol)

Cochrane Database of Systematic Reviews
ObjectivesThis is a protocol for a Cochrane Review (intervention). The objectives are as follows: Primary objectiveTo analyse the benefits and harms of pharmacological or other interventions (e.g.
Perez-Neri, Ivan, Wilmshurst, Jo, Baranello, Giovanni, Jungbluth, Heinz, Voermans, Nicol, Dowling, Jim, Tillema, Alice, Raga, Sharika, Servais, Laurent   +8 more
core   +4 more sources

Congenital RYR1-Associated Myopathies

Pediatric Neurology Briefs, 2013
Investigators from the Children’s Hospital of Philadelphia, NINDS, and other centers in the US and France, report a series of 11 patients with severe neonatal RYR1-associated myopathy confirmed by genetic ...
J Gordon Millichap
core   +5 more sources