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8,388 results

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Page 1
Update on RYR1-related myopathies.
Ogasawara M, Nishino I. Ogasawara M, et al. Curr Opin Neurol. 2024 Oct 1;37(5):504-508. doi: 10.1097/WCO.0000000000001296. Epub 2024 Jul 12. Curr Opin Neurol. 2024. PMID: 38994695 Review.
PURPOSE 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). ...However, recent clinical trials of Rycal ARM210 in patients with RYR1 …
PURPOSE OF REVIEW: RYR1-related myopathy (RYR1-RM) is a group of myopathies caused by mutations in the RYR1 gene, which …
Intracellular calcium leak as a therapeutic target for RYR1-related myopathies.
Kushnir A, Todd JJ, Witherspoon JW, Yuan Q, Reiken S, Lin H, Munce RH, Wajsberg B, Melville Z, Clarke OB, Wedderburn-Pugh K, Wronska A, Razaqyar MS, Chrismer IC, Shelton MO, Mankodi A, Grunseich C, Tarnopolsky MA, Tanji K, Hirano M, Riazi S, Kraeva N, Voermans NC, Gruber A, Allen C, Meilleur KG, Marks AR. Kushnir A, et al. Acta Neuropathol. 2020 Jun;139(6):1089-1104. doi: 10.1007/s00401-020-02150-w. Epub 2020 Mar 31. Acta Neuropathol. 2020. PMID: 32236737 Free PMC article.
RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) on the skeletal muscle sarcoplasmic reticulum (SR). Pathogenic RYR1 variations can destabilize RyR1 leading to calcium …
RYR1 encodes the type 1 ryanodine receptor, an intracellular calcium release channel (RyR1) …
Genotype-phenotype correlations in recessive RYR1-related myopathies.
Amburgey K, Bailey A, Hwang JH, Tarnopolsky MA, Bonnemann CG, Medne L, Mathews KD, Collins J, Daube JR, Wellman GP, Callaghan B, Clarke NF, Dowling JJ. Amburgey K, et al. Orphanet J Rare Dis. 2013 Aug 6;8:117. doi: 10.1186/1750-1172-8-117. Orphanet J Rare Dis. 2013. PMID: 23919265 Free PMC article.
BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy. ...Lastly, the results implicate abnormal ion conductance through the channel pore in the pathogenesis in recessive core myopathies …
BACKGROUND: RYR1 mutations are typically associated with core myopathies and are the most common overall cause of congenital myopathy …
Therapies for RYR1-Related Myopathies: Where We Stand and the Perspectives.
Beaufils M, Travard L, Rendu J, Marty I. Beaufils M, et al. Curr Pharm Des. 2022;28(1):15-25. doi: 10.2174/1389201022666210910102516. Curr Pharm Des. 2022. PMID: 34514983 Review.
RyR1-related myopathies are a family of genetic neuromuscular diseases due to mutations in the RYR1 gene. ...We review the most recent results obtained for the treatment of RyR1-related myopathies, and, in view of the progress in therapeutic development for o …
RyR1-related myopathies are a family of genetic neuromuscular diseases due to mutations in the RYR1 gene. ...We review the mos …
Mutations in RYR1 in malignant hyperthermia and central core disease.
Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P. Robinson R, et al. Hum Mutat. 2006 Oct;27(10):977-89. doi: 10.1002/humu.20356. Hum Mutat. 2006. PMID: 16917943 Review.
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-contraction coupling and skeletal muscle calcium homeostasis. ...This review aims to summarize the current understanding of RYR1 …
The RYR1 gene encodes the skeletal muscle isoform ryanodine receptor and is fundamental to the process of excitation-co …
'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB. Garibaldi M, et al. Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5. Acta Neuropathol Commun. 2019. PMID: 30611313 Free PMC article.
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morphological spectrum by a large monocentric study performed on 54 muscle biopsies from a large cohort of 48 genetically confirmed patients, us …
Several morphological phenotypes have been associated to RYR1-recessive myopathies. We recharacterized the RYR1-recessive morp …
Gene therapies for RyR1-related myopathies.
Marty I, Beaufils M, Fauré J, Rendu J. Marty I, et al. Curr Opin Pharmacol. 2023 Feb;68:102330. doi: 10.1016/j.coph.2022.102330. Epub 2022 Dec 16. Curr Opin Pharmacol. 2023. PMID: 36529094 Review.
Myopathies 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. ...
Myopathies related to variations in the RYR1 gene are genetic diseases for which the therapeutic options are sparse, in part because …
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. Johnston JJ, et al. Genet Med. 2021 Jul;23(7):1288-1295. doi: 10.1038/s41436-021-01125-w. Epub 2021 Mar 25. Genet Med. 2021. PMID: 33767344 Free PMC article.
RESULTS: Seven ACMG/AMP criteria were adopted without changes, nine were adopted with RYR1-specific modifications, and ten were dropped. The in silico (PP3 and BP4) and hotspot criteria (PM1) were evaluated quantitatively. ...CONCLUSION: Curation of these variants will fac …
RESULTS: Seven ACMG/AMP criteria were adopted without changes, nine were adopted with RYR1-specific modifications, and ten were dropp …
RYR1-Related Rhabdomyolysis: A Spectrum of Hypermetabolic States Due to Ryanodine Receptor Dysfunction.
Kruijt N, den Bersselaar LV, Snoeck M, Kramers K, Riazi S, Bongers C, Treves S, Jungbluth H, Voermans N. Kruijt N, et al. Curr Pharm Des. 2022;28(1):2-14. doi: 10.2174/1381612827666210804095300. Curr Pharm Des. 2022. PMID: 34348614 Review.
Variants in the ryanodine receptor-1 gene (RYR1) have been associated with a wide range of neuromuscular conditions, including various congenital myopathies and malignant hyperthermia (MH). ...For the treatment or prevention of RYR1-related rhabdomyoly …
Variants in the ryanodine receptor-1 gene (RYR1) have been associated with a wide range of neuromuscular conditions, in …
Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.
Fusto A, Cassandrini D, Fiorillo C, Codemo V, Astrea G, D'Amico A, Maggi L, Magri F, Pane M, Tasca G, Sabbatini D, Bello L, Battini R, Bernasconi P, Fattori F, Bertini ES, Comi G, Messina S, Mongini T, Moroni I, Panicucci C, Berardinelli A, Donati A, Nigro V, Pini A, Giannotta M, Dosi C, Ricci E, Mercuri E, Minervini G, Tosatto S, Santorelli F, Bruno C, Pegoraro E. Fusto A, et al. Acta Neuropathol Commun. 2022 Apr 15;10(1):54. doi: 10.1186/s40478-022-01357-0. Acta Neuropathol Commun. 2022. PMID: 35428369 Free PMC article.
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). ...In addition, this study highlighted the structural bioinformatics potential in the prediction of …
Mutations in the RYR1 gene, encoding ryanodine receptor 1 (RyR1), are a well-known cause of Central Core Disease …
8,388 results