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Items: 1 to 20 of 92


Allele-specific gene silencing in two mouse models of autosomal dominant skeletal myopathy.

Loy RE, Lueck JD, Mostajo-Radji MA, Carrell EM, Dirksen RT.

PLoS One. 2012;7(11):e49757. doi: 10.1371/journal.pone.0049757. Epub 2012 Nov 12.


Muscle weakness in Ryr1I4895T/WT knock-in mice as a result of reduced ryanodine receptor Ca2+ ion permeation and release from the sarcoplasmic reticulum.

Loy RE, Orynbayev M, Xu L, Andronache Z, Apostol S, Zvaritch E, MacLennan DH, Meissner G, Melzer W, Dirksen RT.

J Gen Physiol. 2011 Jan;137(1):43-57. doi: 10.1085/jgp.201010523. Epub 2010 Dec 13.


An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor.

Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, Fardeau M, Lunardi J.

Hum Mol Genet. 2000 Nov 1;9(18):2599-608.


Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods.

Zvaritch E, Kraeva N, Bombardier E, McCloy RA, Depreux F, Holmyard D, Kraev A, Seidman CE, Seidman JG, Tupling AR, MacLennan DH.

Proc Natl Acad Sci U S A. 2009 Dec 22;106(51):21813-8. doi: 10.1073/pnas.0912126106. Epub 2009 Dec 3.


The I4895T mutation in the type 1 ryanodine receptor induces fiber-type specific alterations in skeletal muscle that mimic premature aging.

Boncompagni S, Loy RE, Dirksen RT, Franzini-Armstrong C.

Aging Cell. 2010 Dec;9(6):958-70. doi: 10.1111/j.1474-9726.2010.00623.x. Epub 2010 Oct 21.


Mice with RyR1 mutation (Y524S) undergo hypermetabolic response to simvastatin.

Knoblauch M, Dagnino-Acosta A, Hamilton SL.

Skelet Muscle. 2013 Sep 3;3(1):22. doi: 10.1186/2044-5040-3-22.


Functional characterisation of the R2452W ryanodine receptor variant associated with malignant hyperthermia susceptibility.

Roesl C, Sato K, Schiemann A, Pollock N, Stowell KM.

Cell Calcium. 2014 Sep;56(3):195-201. doi: 10.1016/j.ceca.2014.07.004. Epub 2014 Jul 18.


Muscle spindles exhibit core lesions and extensive degeneration of intrafusal fibers in the Ryr1(I4895T/wt) mouse model of core myopathy.

Zvaritch E, MacLennan DH.

Biochem Biophys Res Commun. 2015 Apr 24;460(1):34-9. doi: 10.1016/j.bbrc.2015.01.056. Epub 2015 Jan 22.


Malignant hyperthermia susceptibility arising from altered resting coupling between the skeletal muscle L-type Ca2+ channel and the type 1 ryanodine receptor.

Eltit JM, Bannister RA, Moua O, Altamirano F, Hopkins PM, Pessah IN, Molinski TF, López JR, Beam KG, Allen PD.

Proc Natl Acad Sci U S A. 2012 May 15;109(20):7923-8. doi: 10.1073/pnas.1119207109. Epub 2012 Apr 30.


Pharmacologic and functional characterization of malignant hyperthermia in the R163C RyR1 knock-in mouse.

Yang T, Riehl J, Esteve E, Matthaei KI, Goth S, Allen PD, Pessah IN, Lopez JR.

Anesthesiology. 2006 Dec;105(6):1164-75.


Defects in Ca2+ release associated with local expression of pathological ryanodine receptors in mouse muscle fibres.

Lefebvre R, Legrand C, González-Rodríguez E, Groom L, Dirksen RT, Jacquemond V.

J Physiol. 2011 Nov 15;589(Pt 22):5361-82. doi: 10.1113/jphysiol.2011.216408. Epub 2011 Oct 3.


Potassium dependent rescue of a myopathy with core-like structures in mouse.

Hanson MG, Wilde JJ, Moreno RL, Minic AD, Niswander L.

Elife. 2015 Jan 7;4. doi: 10.7554/eLife.02923.


Epigenetic allele silencing unveils recessive RYR1 mutations in core myopathies.

Zhou H, Brockington M, Jungbluth H, Monk D, Stanier P, Sewry CA, Moore GE, Muntoni F.

Am J Hum Genet. 2006 Nov;79(5):859-68. Epub 2006 Sep 21.


Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanisms.

Lyfenko AD, Ducreux S, Wang Y, Xu L, Zorzato F, Ferreiro A, Meissner G, Treves S, Dirksen RT.

Hum Mutat. 2007 Jan;28(1):61-8.


Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

Hum Mutat. 2000;15(5):410-7. Review.


The disorders of the calcium release unit of skeletal muscles: what have we learned from mouse models?

Canato M, Capitanio P, Reggiani C, Cancellara L.

J Muscle Res Cell Motil. 2015 Feb;36(1):61-9. doi: 10.1007/s10974-014-9396-7. Epub 2014 Nov 26. Review.


Ca2+ release in muscle fibers expressing R4892W and G4896V type 1 ryanodine receptor disease mutants.

Lefebvre R, Legrand C, Groom L, Dirksen RT, Jacquemond V.

PLoS One. 2013;8(1):e54042. doi: 10.1371/journal.pone.0054042. Epub 2013 Jan 7.


A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy.

Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, Laing NG, Vedanarayanan V, Subramony SH.

Neurology. 2000 Dec 12;55(11):1689-96.


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