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Results: 1 to 20 of 103

1.

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

Horstick EJ, Linsley JW, Dowling JJ, Hauser MA, McDonald KK, Ashley-Koch A, Saint-Amant L, Satish A, Cui WW, Zhou W, Sprague SM, Stamm DS, Powell CM, Speer MC, Franzini-Armstrong C, Hirata H, Kuwada JY.

Nat Commun. 2013;4:1952. doi: 10.1038/ncomms2952.

PMID:
23736855
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Non-Ca2+-conducting Ca2+ channels in fish skeletal muscle excitation-contraction coupling.

Schredelseker J, Shrivastav M, Dayal A, Grabner M.

Proc Natl Acad Sci U S A. 2010 Mar 23;107(12):5658-63. doi: 10.1073/pnas.0912153107. Epub 2010 Mar 8.

PMID:
20212109
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Zebrafish relatively relaxed mutants have a ryanodine receptor defect, show slow swimming and provide a model of multi-minicore disease.

Hirata H, Watanabe T, Hatakeyama J, Sprague SM, Saint-Amant L, Nagashima A, Cui WW, Zhou W, Kuwada JY.

Development. 2007 Aug;134(15):2771-81. Epub 2007 Jun 27.

PMID:
17596281
[PubMed - indexed for MEDLINE]
Free Article
4.

Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility.

Nelson BR, Wu F, Liu Y, Anderson DM, McAnally J, Lin W, Cannon SC, Bassel-Duby R, Olson EN.

Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):11881-6. doi: 10.1073/pnas.1310571110. Epub 2013 Jul 1.

PMID:
23818578
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Zebrafish MTMR14 is required for excitation-contraction coupling, developmental motor function and the regulation of autophagy.

Dowling JJ, Low SE, Busta AS, Feldman EL.

Hum Mol Genet. 2010 Jul 1;19(13):2668-81. doi: 10.1093/hmg/ddq153. Epub 2010 Apr 16.

PMID:
20400459
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

JP-45/JSRP1 variants affect skeletal muscle excitation-contraction coupling by decreasing the sensitivity of the dihydropyridine receptor.

Yasuda T, Delbono O, Wang ZM, Messi ML, Girard T, Urwyler A, Treves S, Zorzato F.

Hum Mutat. 2013 Jan;34(1):184-90. doi: 10.1002/humu.22209. Epub 2012 Oct 11.

PMID:
22927026
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

The role of ion-regulatory membrane proteins of excitation-contraction coupling and relaxation in inherited muscle diseases.

Froemming GR, Ohlendieck K.

Front Biosci. 2001 Jan 1;6:D65-74. Review.

PMID:
11145921
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
22547813
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Non-sense mutations in the dihydropyridine receptor beta1 gene, CACNB1, paralyze zebrafish relaxed mutants.

Zhou W, Saint-Amant L, Hirata H, Cui WW, Sprague SM, Kuwada JY.

Cell Calcium. 2006 Mar;39(3):227-36. Epub 2005 Dec 20.

PMID:
16368137
[PubMed - indexed for MEDLINE]
10.

Excitation-contraction coupling from the 1950s into the new millennium.

Dulhunty AF.

Clin Exp Pharmacol Physiol. 2006 Sep;33(9):763-72. Review.

PMID:
16922804
[PubMed - indexed for MEDLINE]
11.

Neb: a zebrafish model of nemaline myopathy due to nebulin mutation.

Telfer WR, Nelson DD, Waugh T, Brooks SV, Dowling JJ.

Dis Model Mech. 2012 May;5(3):389-96. doi: 10.1242/dmm.008631. Epub 2011 Dec 12.

PMID:
22159874
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Ryanodine receptor mutations in malignant hyperthermia and central core disease.

McCarthy TV, Quane KA, Lynch PJ.

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

PMID:
10790202
[PubMed - indexed for MEDLINE]
13.

Identification and functional characterization of malignant hyperthermia mutation T1354S in the outer pore of the Cavalpha1S-subunit.

Pirone A, Schredelseker J, Tuluc P, Gravino E, Fortunato G, Flucher BE, Carsana A, Salvatore F, Grabner M.

Am J Physiol Cell Physiol. 2010 Dec;299(6):C1345-54. doi: 10.1152/ajpcell.00008.2010. Epub 2010 Sep 22.

PMID:
20861472
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

A malignant hyperthermia-inducing mutation in RYR1 (R163C): alterations in Ca2+ entry, release, and retrograde signaling to the DHPR.

Estève E, Eltit JM, Bannister RA, Liu K, Pessah IN, Beam KG, Allen PD, López JR.

J Gen Physiol. 2010 Jun;135(6):619-28. doi: 10.1085/jgp.200910328. Epub 2010 May 17.

PMID:
20479110
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Stac3 is a novel regulator of skeletal muscle development in mice.

Reinholt BM, Ge X, Cong X, Gerrard DE, Jiang H.

PLoS One. 2013 Apr 23;8(4):e62760. doi: 10.1371/journal.pone.0062760. Print 2013.

PMID:
23626854
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Malignant hyperthermia and excitation-contraction coupling.

Melzer W, Dietze B.

Acta Physiol Scand. 2001 Mar;171(3):367-78. Review.

PMID:
11412150
[PubMed - indexed for MEDLINE]
17.

Ambra1 knockdown in zebrafish leads to incomplete development due to severe defects in organogenesis.

Benato F, Skobo T, Gioacchini G, Moro I, Ciccosanti F, Piacentini M, Fimia GM, Carnevali O, Dalla Valle L.

Autophagy. 2013 Apr;9(4):476-95. doi: 10.4161/auto.23278. Epub 2013 Jan 24.

PMID:
23348054
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Skeletal muscle excitation-contraction coupling is independent of a conserved heptad repeat motif in the C-terminus of the DHPRbeta(1a) subunit.

Dayal A, Schredelseker J, Franzini-Armstrong C, Grabner M.

Cell Calcium. 2010 Jun;47(6):500-6. doi: 10.1016/j.ceca.2010.04.003. Epub 2010 May 6.

PMID:
20451250
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Triadin binding to the C-terminal luminal loop of the ryanodine receptor is important for skeletal muscle excitation contraction coupling.

Goonasekera SA, Beard NA, Groom L, Kimura T, Lyfenko AD, Rosenfeld A, Marty I, Dulhunty AF, Dirksen RT.

J Gen Physiol. 2007 Oct;130(4):365-78. Epub 2007 Sep 10.

PMID:
17846166
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Mutations in RYR1 in malignant hyperthermia and central core disease.

Robinson R, Carpenter D, Shaw MA, Halsall J, Hopkins P.

Hum Mutat. 2006 Oct;27(10):977-89. Review.

PMID:
16917943
[PubMed - indexed for MEDLINE]

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