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Items: 9

1.

A study in Polish patients with cardiomyopathy emphasizes pathogenicity of phospholamban (PLN) mutations at amino acid position 9 and low penetrance of heterozygous null PLN mutations.

Truszkowska GT, Bilińska ZT, Kosińska J, Śleszycka J, Rydzanicz M, Sobieszczańska-Małek M, Franaszczyk M, Bilińska M, Stawiński P, Michalak E, Małek ŁA, Chmielewski P, Foss-Nieradko B, Machnicki MM, Stokłosa T, Ponińska J, Szumowski Ł, Grzybowski J, Piwoński J, Drygas W, Zieliński T, Płoski R.

BMC Med Genet. 2015 Apr 3;16:21. doi: 10.1186/s12881-015-0167-0.

2.

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.

Karakikes I, Stillitano F, Nonnenmacher M, Tzimas C, Sanoudou D, Termglinchan V, Kong CW, Rushing S, Hansen J, Ceholski D, Kolokathis F, Kremastinos D, Katoulis A, Ren L, Cohen N, Gho JM, Tsiapras D, Vink A, Wu JC, Asselbergs FW, Li RA, Hulot JS, Kranias EG, Hajjar RJ.

Nat Commun. 2015 Apr 29;6:6955. doi: 10.1038/ncomms7955.

3.

Phospholamban interactome in cardiac contractility and survival: A new vision of an old friend.

Haghighi K, Bidwell P, Kranias EG.

J Mol Cell Cardiol. 2014 Dec;77:160-7. doi: 10.1016/j.yjmcc.2014.10.005. Epub 2014 Oct 18. Review.

4.

Gene expression of sternohyoid and diaphragm muscles in type 2 diabetic rats.

van Lunteren E, Moyer M.

BMC Endocr Disord. 2013 Oct 7;13:43. doi: 10.1186/1472-6823-13-43.

5.

A designed zinc-finger transcriptional repressor of phospholamban improves function of the failing heart.

Zhang HS, Liu D, Huang Y, Schmidt S, Hickey R, Guschin D, Su H, Jovin IS, Kunis M, Hinkley S, Liang Y, Hinh L, Spratt SK, Case CC, Rebar EJ, Ehrlich BE, Gregory PD, Giordano FJ.

Mol Ther. 2012 Aug;20(8):1508-15. doi: 10.1038/mt.2012.80. Epub 2012 Jul 24. Erratum in: Mol Ther. 2012 Dec;20(12):2370. Ehrlich, Barbara [corrected to Ehrlich, Barbara E].

6.

Modulation of cardiac contractility by the phospholamban/SERCA2a regulatome.

Kranias EG, Hajjar RJ.

Circ Res. 2012 Jun 8;110(12):1646-60. doi: 10.1161/CIRCRESAHA.111.259754. Review.

7.

Hydrophobic imbalance in the cytoplasmic domain of phospholamban is a determinant for lethal dilated cardiomyopathy.

Ceholski DK, Trieber CA, Young HS.

J Biol Chem. 2012 May 11;287(20):16521-9. doi: 10.1074/jbc.M112.360859. Epub 2012 Mar 16.

8.

No evidence for an association between the -36A>C phospholamban gene polymorphism and a worse prognosis in heart failure.

Santos DG, Medeiros A, Brum PC, Mill JG, Mansur AJ, Krieger JE, Pereira AC.

BMC Cardiovasc Disord. 2009 Jul 28;9:33. doi: 10.1186/1471-2261-9-33.

9.

The human G147D-protein phosphatase 1 inhibitor-1 polymorphism is not associated with altered clinical characteristics in heart failure.

Chen G, Zhou X, Pathak A, Dorn GW, Kranias EG.

Cardiology. 2009;112(3):224-31. doi: 10.1159/000151240. Epub 2008 Aug 12.

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