Santulli G, Lewis D, des Georges A, Marks AR, Frank J. Ryanodine receptor structure and function in health and disease. Sub-cell Biochem. 2018;87:329–52.
Article
CAS
Google Scholar
Phillips MS, Fujii J, Khanna VK, DeLeon S, Yokobata K, de Jong PJ, et al. The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene. Genomics. 1996;34(1):24–41.
Article
CAS
Google Scholar
Gillard EF, Otsu K, Fujii J, Khanna VK, de Leon S, Derdemezi J, et al. A substitution of cysteine for arginine 614 in the ryanodine receptor is potentially causative of human malignant hyperthermia. Genomics. 1991;11(3):751–5.
Article
CAS
Google Scholar
Lawal TA, Todd JJ, Meilleur KG. Ryanodine receptor 1-related myopathies: diagnostic and therapeutic approaches. Neurother J Am Soc Exp Neurother. 2018;15(4):885–99.
Google Scholar
D’Arcy CE, Bjorksten A, Yiu EM, Bankier A, Gillies R, McLean CA, et al. King-denborough syndrome caused by a novel mutation in the ryanodine receptor gene. Neurology. 2008;71(10):776–7.
Article
CAS
Google Scholar
Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, et al. “Dusty core disease” (DuCD): expanding morphological spectrum of RYR1 recessive myopathies. Acta Neuropathol Commun. 2019;7(1):3.
Article
Google Scholar
Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, et al. Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol. 2012;124(4):575–81.
Article
Google Scholar
Løseth S, Voermans NC, Torbergsen T, Lillis S, Jonsrud C, Lindal S, et al. A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene. J Neurol. 2013;260(6):1504–10.
Article
Google Scholar
McKie AB, Alsaedi A, Vogt J, Stuurman KE, Weiss MM, Shakeel H, et al. Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathol Commun. 2014;2:148.
Article
Google Scholar
Lawal TA, Todd JJ, Witherspoon JW, Bönnemann CG, Dowling JJ, Hamilton SL, et al. Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature. Skeletal muscle. 2020;10(1):32.
Article
CAS
Google Scholar
Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinform (Oxford, England). 2010;26(5):589–95.
Article
Google Scholar
McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297–303.
Article
CAS
Google Scholar
Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38(16): e164.
Article
Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology. Genet Med Off J Am Coll Med Genet. 2015;17(5):405–24.
Google Scholar
Romero NB, Monnier N, Viollet L, Cortey A, Chevallay M, Leroy JP, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain J Neurol. 2003;126(Pt 11):2341–9.
Article
Google Scholar
Monnier N, Laquerrière A, Marret S, Goldenberg A, Marty I, Nivoche Y, et al. First genomic rearrangement of the RYR1 gene associated with an atypical presentation of lethal neonatal hypotonia. Neuromuscul Disord NMD. 2009;19(10):680–4.
Article
Google Scholar
Bevilacqua JA, Monnier N, Bitoun M, Eymard B, Ferreiro A, Monges S, et al. Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. Neuropathol Appl Neurobiol. 2011;37(3):271–84.
Article
CAS
Google Scholar
Bharucha-Goebel DX, Santi M, Medne L, Zukosky K, Dastgir J, Shieh PB, et al. Severe congenital RYR1-associated myopathy: the expanding clinicopathologic and genetic spectrum. Neurology. 2013;80(17):1584–9.
Article
CAS
Google Scholar
Kariminejad A, Ghaderi-Sohi S, Hossein-Nejad Nedai H, Varasteh V, Moslemi AR, Tajsharghi H. Lethal multiple pterygium syndrome, the extreme end of the RYR1 spectrum. BMC Musculoskelet Disord. 2016;17:109.
Article
Google Scholar
Mauri E, Piga D, Govoni A, Brusa R, Pagliarani S, Ripolone M, et al. Early findings in neonatal cases of RYR1-related congenital myopathies. Front Neurol. 2021;12: 664618.
Article
Google Scholar
Treves S, Anderson AA, Ducreux S, Divet A, Bleunven C, Grasso C, et al. Ryanodine receptor 1 mutations, dysregulation of calcium homeostasis and neuromuscular disorders. Neuromuscul Disord NMD. 2005;15(9–10):577–87.
Article
Google Scholar
Chang X, Wei R, Wei C, Liu J, Qin L, Yan H, et al. Correlation of phenotype-genotype and protein structure in RYR1-related myopathy. Front Neurol. 2022;13: 870285.
Article
Google Scholar
Todd JJ, Sagar V, Lawal TA, Allen C, Razaqyar MS, Shelton MS, et al. Correlation of phenotype with genotype and protein structure in RYR1-related disorders. J Neurol. 2018;265(11):2506–24.
Article
CAS
Google Scholar
des Georges A, Clarke OB, Zalk R, Yuan Q, Condon KJ, Grassucci RA, et al. Structural basis for gating and activation of RyR1. Cell. 2016;167(1):145–57.
Article
CAS
Google Scholar
Hernández-Ochoa EO, Pratt SJP, Lovering RM, Schneider MF. Critical role of intracellular RyR1 calcium release channels in skeletal muscle function and disease. Front Physiol. 2015;6:420.
PubMed
Google Scholar
Wright NT, Prosser BL, Varney KM, Zimmer DB, Schneider MF, Weber DJ. S100A1 and calmodulin compete for the same binding site on ryanodine receptor. J Biol Chem. 2008;283(39):26676–83.
Article
CAS
Google Scholar
Zalk R, Lehnart SE, Marks AR. Modulation of the ryanodine receptor and intracellular calcium. Annu Rev Biochem. 2007;76:367–85.
Article
CAS
Google Scholar
Snoeck M, van Engelen BG, Küsters B, Lammens M, Meijer R, Molenaar JP, et al. RYR1-related myopathies: a wide spectrum of phenotypes throughout life. Eur J Neurol. 2015;22(7):1094–112.
Article
CAS
Google Scholar
Du GG, Sandhu B, Khanna VK, Guo XH, MacLennan DH. Topology of the Ca2+ release channel of skeletal muscle sarcoplasmic reticulum (RyR1). Proc Natl Acad Sci USA. 2002;99(26):16725–30.
Article
CAS
Google Scholar
Xiong L, Zhang JZ, He R, Hamilton SL. A Ca2+-binding domain in RyR1 that interacts with the calmodulin binding site and modulates channel activity. Biophys J. 2006;90(1):173–82.
Article
CAS
Google Scholar
Woll KA, Van Petegem F. Calcium-release channels: structure and function of IP(3) receptors and ryanodine receptors. Physiol Rev. 2022;102(1):209–68.
Article
CAS
Google Scholar
Bai XC, Yan Z, Wu J, Li Z, Yan N. The central domain of RyR1 is the transducer for long-range allosteric gating of channel opening. Cell Res. 2016;26(9):995–1006.
Article
CAS
Google Scholar