Results 1 to 10 of about 9,407 (116)

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance [PDF]

Frontiers in Pediatrics
Pathogenic variants in the Ryanodine Receptor 1 (RYR1) gene represent the most common cause of congenital myopathy. The severity of RYR1-related myopathy presenting in the neonatal period is quite variable, ranging from a perinatal lethal type to a ...
Saptadweepa Sanghamitra, Rupashree Mandala, Hetal Budh, Yashita Arora, Pedro Rivera-Hernandez, N Ja Hpa, Valerie Elberson, Munmun Rawat, Srinivasan Mani   +8 more
doaj   +2 more sources

RyR1 Is Involved in the Control of Myogenesis

Cells
The RyR1 calcium release channel is a key player in skeletal muscle excitation–contraction coupling. Mutations in the RYR1 gene are associated with congenital myopathies.
Julie Brocard, Julien Fauré, Isabelle Marty   +2 more
exaly   +3 more sources

RYR1+ skeletal muscle-derived extracellular vesicles are exercise responsive and associated with insulin action [PDF]

Journal of Translational Medicine
Background Skeletal muscle is a central regulator of insulin sensitivity and glucose homeostasis. The ryanodine receptor 1 (RYR1) is highly expressed in skeletal muscle and plays a key role in myogenic differentiation.
Xin Zhang, Christopher G. Vann, David B. Bartlett, Alastair Khodabukus, George A. Truskey, Nenad Bursac, Joseph A. Houmard, Johanna L. Johnson, Kim M. Huffman, Brian J. Andonian, William E. Kraus, Virginia Byers Kraus   +11 more
doaj   +2 more sources

Structural basis for simvastatin-induced skeletal muscle weakness associated with type 1 ryanodine receptor T4709M mutation [PDF]

The Journal of Clinical Investigation
Statins lower cholesterol, reducing the risk of heart disease, and are among the most frequently prescribed drugs. Approximately 10% of individuals develop statin-associated muscle symptoms (SAMS; myalgias, rhabdomyolysis, and muscle weakness), often ...
Gunnar Weninger, Haikel Dridi, Steven Reiken, Qi Yuan, Nan Zhao, Linda Groom, Jennifer Leigh, Yang Liu, Carl Tchagou, Jiayi Kang, Alexander Chang, Estefania Luna-Figueroa, Marco C. Miotto, Anetta Wronska, Robert T. Dirksen, Andrew R. Marks   +15 more
doaj   +2 more sources

Ryanodine receptor RyR1-mediated elevation of Ca2+ concentration is required for the late stage of myogenic differentiation and fusion

Journal of Animal Science and Biotechnology, 2022
Background Cytosolic Ca2+ plays vital roles in myogenesis and muscle development. As a major Ca2+ release channel of endoplasmic reticulum (ER), ryanodine receptor 1 (RyR1) key mutations are main causes of severe congenital myopathies.
Kai Qiu, Yubo Wang, Doudou Xu, Linjuan He, Xin Zhang, Enfa Yan, Lu Wang, Jingdong Yin   +7 more
doaj   +1 more source

A skeletal muscle ryanodine receptor interaction domain in triadin. [PDF]

PLoS ONE, 2012
Excitation-contraction coupling in skeletal muscle depends, in part, on a functional interaction between the ligand-gated ryanodine receptor (RyR1) and integral membrane protein Trisk 95, localized to the sarcoplasmic reticulum membrane.
Elize Wium, Angela F Dulhunty, Nicole A Beard   +2 more
doaj   +1 more source

Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Acta Neuropathologica Communications, 2022
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease (CCD) and Multi-minicore Disease (MmD). We screened a cohort of 153 patients carrying an histopathological diagnosis of core myopathy (cores ...
Aurora Fusto, Denise Cassandrini, Chiara Fiorillo, Valentina Codemo, Guja Astrea, Adele D’Amico, Lorenzo Maggi, Francesca Magri, Marika Pane, Giorgio Tasca, Daniele Sabbatini, Luca Bello, Roberta Battini, Pia Bernasconi, Fabiana Fattori, Enrico Silvio Bertini, Giacomo Comi, Sonia Messina, Tiziana Mongini, Isabella Moroni, Chiara Panicucci, Angela Berardinelli, Alice Donati, Vincenzo Nigro, Antonella Pini, Melania Giannotta, Claudia Dosi, Enzo Ricci, Eugenio Mercuri, Giovanni Minervini, Silvio Tosatto, Filippo Santorelli, Claudio Bruno, Elena Pegoraro   +33 more
doaj   +1 more source

Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

Skeletal Muscle, 2020
The RYR1 gene, which encodes the sarcoplasmic reticulum calcium release channel or type 1 ryanodine receptor (RyR1) of skeletal muscle, was sequenced in 1988 and RYR1 variations that impair calcium homeostasis and increase susceptibility to malignant ...
Tokunbor A. Lawal, Joshua J. Todd, Jessica W. Witherspoon, Carsten G. Bönnemann, James J. Dowling, Susan L. Hamilton, Katherine G. Meilleur, Robert T. Dirksen   +7 more
doaj   +1 more source

Ryanodine receptor type 1 content decrease‐induced endoplasmic reticulum stress is a hallmark of myopathies

Journal of Cachexia, Sarcopenia and Muscle, 2023
Background Decreased ryanodine receptor type 1 (RyR1) protein levels are a well‐described feature of recessive RYR1‐related myopathies. The aim of the present study was twofold: (1) to determine whether RyR1 content is also decreased in other myopathies ...
Jeremy Vidal, Eric A. Fernandez, Martin Wohlwend, Pirkka‐Pekka Laurila, Andrea Lopez‐Mejia, Julien Ochala, Alexander J. Lobrinus, Bengt Kayser, Isabel C. Lopez‐Mejia, Nicolas Place, Nadège Zanou   +10 more
doaj   +1 more source

Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

Scientific Reports, 2022
The RYR1 gene codes for a ryanodine receptor which is a calcium release channel in the skeletal muscle sarcoplasmic reticulum. It is associated with Malignant Hyperthermia (MH) and congenital myopathies including Central Core Disease (CCD), Multiminicore
Claribel Tian Yu Foo, Yi Hui To, Astrid Irwanto, Alvin Yu-Jin Ng, Benedict Yan, Sophia Tsong Huey Chew, Jianjun Liu, Lian Kah Ti   +7 more
doaj   +1 more source