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Inherited Variants in SCARB1 Cause Severe Early-Onset Coronary Artery Disease.
Koenig SN, Sucharski HC, Jose EM, Dudley EK, Madiai F, Cavus O, Argall AD, Williams JL, Murphy NP, Keith CBR, El Refaey M, Gumina RJ, Boudoulas KD, Milks MW, Sofowora G, Smith SA, Hund TJ, Wright NT, Bradley EA, Zareba KM, Wold LE, Mazzaferri EL Jr, Mohler PJ. Koenig SN, et al. Circ Res. 2021 Jul 9;129(2):296-307. doi: 10.1161/CIRCRESAHA.120.318793. Epub 2021 May 12. Circ Res. 2021. PMID: 33975440 Free PMC article.
Ankyrin-B dysfunction predisposes to arrhythmogenic cardiomyopathy and is amenable to therapy.
Roberts JD, Murphy NP, Hamilton RM, Lubbers ER, James CA, Kline CF, Gollob MH, Krahn AD, Sturm AC, Musa H, El-Refaey M, Koenig S, Aneq MÅ, Hoorntje ET, Graw SL, Davies RW, Rafiq MA, Koopmann TT, Aafaqi S, Fatah M, Chiasson DA, Taylor MR, Simmons SL, Han M, van Opbergen CJ, Wold LE, Sinagra G, Mittal K, Tichnell C, Murray B, Codima A, Nazer B, Nguyen DT, Marcus FI, Sobriera N, Lodder EM, van den Berg MP, Spears DA, Robinson JF, Ursell PC, Green AK, Skanes AC, Tang AS, Gardner MJ, Hegele RA, van Veen TA, Wilde AA, Healey JS, Janssen PM, Mestroni L, van Tintelen JP, Calkins H, Judge DP, Hund TJ, Scheinman MM, Mohler PJ. Roberts JD, et al. J Clin Invest. 2019 Jul 2;129(8):3171-3184. doi: 10.1172/JCI125538. eCollection 2019 Jul 2. J Clin Invest. 2019. PMID: 31264976 Free PMC article.
Defining new mechanistic roles for αII spectrin in cardiac function.
Lubbers ER, Murphy NP, Musa H, Huang CY, Gupta R, Price MV, Han M, Daoud E, Gratz D, El Refaey M, Xu X, Hoeflinger NK, Friel EL, Lancione P, Wallace MJ, Cavus O, Simmons SL, Williams JL, Skaf M, Koenig SN, Janssen PML, Rasband MN, Hund TJ, Mohler PJ. Lubbers ER, et al. J Biol Chem. 2019 Jun 14;294(24):9576-9591. doi: 10.1074/jbc.RA119.007714. Epub 2019 May 7. J Biol Chem. 2019. PMID: 31064843 Free PMC article.
Novel Mechanistic Roles for Ankyrin-G in Cardiac Remodeling and Heart Failure.
Makara MA, Curran J, Lubbers ER, Murphy NP, Little SC, Musa H, Smith SA, Unudurthi SD, Rajaram MVS, Janssen PML, Boyden PA, Bradley EA, Hund TJ, Mohler PJ. Makara MA, et al. JACC Basic Transl Sci. 2018 Nov 12;3(5):675-689. doi: 10.1016/j.jacbts.2018.07.008. eCollection 2018 Oct. JACC Basic Transl Sci. 2018. PMID: 30456339 Free PMC article.