Gene Symbol: ryr1a
Description: ryanodine receptor 1a (skeletal)
Alias: ryr1, ryanodine receptor 1, ryanodine receptor 1 (skeletal), ryanodine receptor 1a (slow muscle)
Jurynec M, Xia R, Mackrill J, Gunther D, Crawford T, Flanigan K, et al
. Selenoprotein N is required for ryanodine receptor calcium release channel activity in human and zebrafish muscle. Proc Natl Acad Sci U S A. 2008;105:12485-90 pubmed publisher
Mutations affecting the seemingly unrelated gene products, SepN1, a selenoprotein of unknown function, and RyR1, the major component of the ryanodine receptor intracellular calcium release channel, result in an overlapping spectrum of ..
Hirata H, Watanabe T, Hatakeyama J, Sprague S, Saint Amant L, Nagashima A, et al
. Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease. Development. 2007;134:2771-81 pubmed
..b>RYR1 mutations in humans lead to a congenital myopathy, multi-minicore disease (MmD), which is defined by amorphous ..
Darbandi S, Franck J. A comparative study of ryanodine receptor (RyR) gene expression levels in a basal ray-finned fish, bichir (Polypterus ornatipinnis) and the derived euteleost zebrafish (Danio rerio). Comp Biochem Physiol B Biochem Mol Biol. 2009;154:443-8 pubmed publisher
..Teleost fish express RyR1a and RyR1b genes that are expressed in slow twitch skeletal muscle and fast twitch skeletal muscles respectively...
Koulen P, Janowitz T, Johenning F, Ehrlich B. Characterization of the calcium-release channel/ryanodine receptor from zebrafish skeletal muscle. J Membr Biol. 2001;183:155-63 pubmed
..The slope conductance for both isoforms was higher than that of the mammalian RyR type 1 (RyR1) measured with divalent ions...
Little A, Seebacher F. Thyroid hormone regulates muscle function during cold acclimation in zebrafish (Danio rerio). J Exp Biol. 2013;216:3514-21 pubmed publisher
..We suggest that the role of TH in modulating SERCA1 expression during cold exposure may have predisposed it to regulate endothermic thermogenesis. ..
Wu H, Brennan C, Ashworth R. Ryanodine receptors, a family of intracellular calcium ion channels, are expressed throughout early vertebrate development. BMC Res Notes. 2011;4:541 pubmed publisher
..RyRs are differentially expressed in slow (ryr1a), fast (ryr3) and both types (ryr1b) of developing skeletal muscle...
Perni S, Marsden K, Escobar M, Hollingworth S, Baylor S, Franzini Armstrong C. Structural and functional properties of ryanodine receptor type 3 in zebrafish tail muscle. J Gen Physiol. 2015;145:173-84 pubmed publisher
..A second isoform, RyR3, does not sustain EC coupling and differentiation in the absence of RyR1 and is expressed at highly variable levels...
Paavola J, Schliffke S, Rossetti S, Kuo I, Yuan S, Sun Z, et al
. Polycystin-2 mutations lead to impaired calcium cycling in the heart and predispose to dilated cardiomyopathy. J Mol Cell Cardiol. 2013;58:199-208 pubmed publisher
..In human subjects we found an association between ADPKD and IDCM and suggest that PKD mutations contribute to the development of heart failure. ..
Jackson H, Ono Y, Wang X, Elworthy S, Cunliffe V, Ingham P. The role of Sox6 in zebrafish muscle fiber type specification. Skelet Muscle. 2015;5:2 pubmed publisher
..They also exhibited a striking curvature of the spine. The Sox6 transcription factor is a key regulator of fast-twitch muscle fiber differentiation in the zebrafish, a role similar to that ascribed to its murine ortholog. ..