Recombinant Human Ryanodine receptor 1 (RYR1), partial

1. Segregation analysis is of limited value in assessing pathogenicity of RYR1 variants in malignant hyperthermia PMID: 28403410
2. 49 RYR1 variants were identified in 47 cases. In recessive cases, facial weakness, neonatal hypotonia, ophthalmoplegia/paresis, ptosis, and scapular winging were more frequently observed than in dominant/de novo cases. Variant mapping revealed patterns of clinical severity across RyR1 domains, including a structural plane of interest within the RyR1 cytosolic shell, in which 84% of variants affected the bridging solenoid. PMID: 30155738
3. Our FRET-based HTS detects RyR binding of accessory proteins calmodulin (CaM) or FKBP12.6...One compound increased FRET and inhibited RyR1, which was only significant at nM [Ca(2+)], and accentuated without CaM present. PMID: 27760856
4. Mutations in RYR1 should be considered as a significant cause of rhabdomyolysis and myalgia syndrome in patients with the characteristic combination of rhabdomyolysis, myalgia and cramps, creatine kinase elevation, no weakness and often muscle hypertrophy PMID: 29635721
5. The ryanodine receptor 1 (RyR1) is mainly expressed in the sarcoplasmic reticulum (SR) of skeletal muscle and is a calcium release channel which is coupled to the dihydropyridine receptor in the T-tubule of the sarcolemma. PMID: 27147545
6. in our series subarachnoid hemorrhage patients have an increased frequency of rare RYR1 variants PMID: 28750945
7. Findings signal a potential association between malignant hyperthermia (MH) susceptibility and exertional rhabdomyolysis (ER); the presence of MH-causative mutations and putative deleterious RYR1 variants in ER patients without a history of adverse anesthetic reactions suggests their possible increased risk for MH PMID: 28326467
8. Thus, RYR1 mutations may lead to prolonged bleeding by altering vascular smooth muscle cell function. The reversibility of the bleeding phenotype emphasizes the potential therapeutic value of dantrolene in the treatment of such bleeding disorders. PMID: 27382027
9. Results show that in disease-associated RYR1 mutations, there is increased gain and Ca(2+) sensitivity for activation in a site-specific manner which suggest that divergent CICR (Ca(2+) -induced Ca(2+) release) activity may cause various disease phenotypes by specific mutations. PMID: 27586648
10. the RYR1 SNP rs35364374 was not associated with Aneurysmal Subarachnoid Hemorrhage or its clinical squeal. PMID: 28087430
11. level of myotubes MTM1 mutations do not dramatically affect calcium homeostasis and calcium release mediated through the ryanodine receptor 1, though they do affect myotube size and nuclear content..mature muscles such as those obtained from patient muscle biopsies exhibit a significant decrease in expression of the ryanodine receptor 1, a decrease in muscle-specific microRNAs and a considerable up-regulation of HDAC4. PMID: 28007904
12. Allosteric mechanism of RyR1, including a key interaction between a peripheral domain and the Ca-binding EF hand domain PMID: 26492335
13. fetuses with lethal myopathy were compound heterozygous for a paternally inherited missense variant (c.2113G > A; p.Gly705Arg) and a novel maternally inherited truncating frameshift deletion (c.8843delC; p.Ser2948Cysfs*58) PMID: 27616680
14. Data suggest that reduced SOICR (store overload-induced Ca2+ release) threshold is a common defect of malignant hyperthermia- or central core disease-associated RyR1 mutations; carvedilol (a beta-blocker), like dantrolene (a central muscle relaxant), can suppress RyR1-mediated SOICR. Here, human disease-associated point mutations were induced in recombinant rabbit RyR1 via site-directed mutagenesis. PMID: 28687594
15. results suggest that nine RyR1 mutants associated with skeletal muscle diseases were differently regulated by Ca(2+) and Mg(2+) Four malignant hyperthermia-associated RyR1 mutations in the S2-S3 loop conferred RyR2-type Ca(2+)- and Mg(2+)-dependent channel regulation PMID: 27558158
16. This review summarizes the progress in the structural determination of RyR by cryoEM and, bearing in mind the leap in resolution provided by the recent implementation of direct electron detection, analyzes the first near-atomic structures of RyR. PMID: 27671094
17. Data indicate that unlike ryanodine receptor RyRs, inositol 145-trisphosphate receptor IP3Rs are present and continually functional at early stages of cardiomyocyte differentiation. PMID: 27430888
18. This study reveled that One novel (p.L4578V) and heterozygous missense mutations in RYR1 were identified in 7 chines patients. PMID: 26799446
19. CaM and S100A1 can concurrently bind to and functionally modulate RyR1 and RyR2, but this does not involve direct competition at the RyR CaM binding site. PMID: 27226555
20. the RYR1 gene has previously been implicated in the pathogenesis of malignant hyperthermia, (1) this particular variant has only been reported in one other case of malignant hyperthermia PMID: 27555149
21. this is the first case of a patient with central core disease, carrying a RYR1 mutation in a Korean large family, who had concurrent familial hemophagocytic lymphohistiocytosis. PMID: 25521991
22. The results provide an intriguing perspective of involvement of misregulated RyR1 splicing in muscular disease. PMID: 26531141
23. Study describes the important role of RYR1 in skeletal muscle and as a susceptibility locus for malignant hyperthermia and other drug-induced myopathies. [review] PMID: 26709912
24. This study demonstrated that the RYR1 mutation p.Arg4737Trp associated with susceptibility to malignant hyperthermia. PMID: 26631338
25. Data show that the local Ca(2+) signals observed within 20 ms upon microinjection of Jurkat cells with nicotinic acid adenine dinucleotide phosphate (NAADP) were sensitive to type 1 ryanodine receptor (RyR1) knockdown. PMID: 26462735
26. A single nucleotide variant in the RYR1 gene is one of the responsible genes of idiopathic hyper CK-emia (persistent elevation of serum creatine kinase). PMID: 26119398
27. We report 2 siblings with congenital ptosis and scoliosis who were considered for ptosis surgery but were found to harbor underlying recessive RYR1 mutations. PMID: 26691049
28. Studies indicate that the ryanodine receptors (RyRs: RyR1, RyR2, RyR3) and inositol 1,4,5-trisphosphate receptors (IP3Rs: IP3R1, IP3R2, IP3R3) are the major Ca(2+) release channels (CRCs) on the endo/sarcoplasmic reticulum (ER/SR). PMID: 25966694
29. High-intensity interval training exercise induces a ROS-dependent RyR1 fragmentation in muscles of recreationally active subjects, and the resulting changes in muscle fiber Ca(2+)-handling trigger muscular adaptations PMID: 26575622
30. This study demonistrated that RYR1 mutation releated to Centronuclear myopathy. PMID: 25957634
31. Phenotype-genotype correlation analysis in 4 families and review of available reports on association of the p.Tyr3933Cys allele with malignant hyperthermia (MH) as well as congenital core myopathies indicates an allelic association with MH susceptibility PMID: 25958340
32. unlike RyR1 normal WT RyR2 does not bind dantrolene in spite of the fact that the RyR1 dantrolene-binding site (residues 590-609) is conserved in RyR2 PMID: 26009179
33. investigated spectrum of RYR-1 related disorders in a retrospective cohort study. 61 different mutations were detected, of which 24 were novel. Some mutations are present in both dominant (MHS) and recessive modes (congenital myopathy) of inheritance PMID: 25960145
34. SPRY2 domain forms two antiparallel beta sheets establishing a core, and four additional modules of which several are required for proper folding PMID: 25370123
35. Large deletions in the RYR1 gene have been reported in only two cases. Report underlines the broadening spectrum in myopathologic disorders and highlights the concept of 'RYR1-associated/related core myopathies'. PMID: 25747005
36. Mutations of p.Arg2508 in RYR1 were linked to malignant hyperthermia. PMID: 26381711
37. RYR1 mutations have to be considered in patients presenting with fever-induced rhabdomyolysis, particularly if recurrent, even without a personal or familial history of MHS. PMID: 25081049
38. Study reports a homozygous RYR1 null mutation and expand the range of RYR1-related phenotypes to include early lethal foetal akinesia deformation sequence/lethal multiple pterygium syndrome PMID: 25476234
39. The RyR2-H29D mutation is associated with a clinical phenotype of short-coupled PMVT at rest PMID: 25463374
40. the s identified three pathogenic and four novel RYR1 variants, with a further five RYR1 variants previously reported in association with Malignant Hyperthermia PMID: 25658027
41. RYR1-related myopathy is one of the most frequent causes of congenital myopathy. PMID: 24706162
42. Patients with one RYR1 mutation displayed significantly higher contractures in the in vitro contracture test than patients without RYR1 mutations PMID: 25047158
43. R2452W ryanodine receptor variant is associated with malignant hyperthermia. PMID: 25086907
44. Calcium-dependent energetics of calmodulin domain interactions with regulatory regions of the RYR1 has been characterized. PMID: 25145833
45. RYR1 causative mutations were identified in six persons. Trends indicated higher mutation identification in those with more definitive clinical episodes of malignant hyperthermia and stronger in vitro contracture test responses. PMID: 25735680
46. we sequenced the ryanodine receptor 1 (RYR1) gene in 47 patients with DMD searching for malignant hyperthermia causative mutations in the skeletal muscle RYR1 gene PMID: 24557023
47. Aberrant splicing of RYR1 may alter intracellular Ca(2+) signalling in myotonic dystrophy 1 and 2 myotubes. The differing dysregulation of intracellular Ca(2+) handling in DM1 and DM2 may explain their distinct sarcolemmal hyperexcitabilities. PMID: 23888875
48. RYR1 missense mutations were identified in 85% of patients with central core disease and were found to cluster in exons 100-102. PMID: 24561095
49. Ryr1-3 genes all show evvects of positive and purifying selection, as well as correlated evolution with dihydropyridine receptor. PMID: 24254650
50. R2355W can be included in the list of causative mutations for malignant hyperthermia. V2354M might be a causative mutation. PMID: 24361844

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HGNC: 10483

OMIM: 117000

KEGG: hsa:6261

STRING: 9606.ENSP00000352608

UniGene: Hs.466664