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Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration.
Lee S, Vander Roest AS, Blair CA, Kao K, Bremner SB, Childers MC, Pathak D, Heinrich P, Lee D, Chirikian O, Mohran SE, Roberts B, Smith JE, Jahng JW, Paik DT, Wu JC, Gunawardane RN, Ruppel KM, Mack DL, Pruitt BL, Regnier M, Wu SM, Spudich JA, Bernstein D. Lee S, et al. Among authors: vander roest as. Proc Natl Acad Sci U S A. 2024 May 7;121(19):e2318413121. doi: 10.1073/pnas.2318413121. Epub 2024 Apr 29. Proc Natl Acad Sci U S A. 2024. PMID: 38683993
Altered Cardiac Energetics and Mitochondrial Dysfunction in Hypertrophic Cardiomyopathy.
Ranjbarvaziri S, Kooiker KB, Ellenberger M, Fajardo G, Zhao M, Vander Roest AS, Woldeyes RA, Koyano TT, Fong R, Ma N, Tian L, Traber GM, Chan F, Perrino J, Reddy S, Chiu W, Wu JC, Woo JY, Ruppel KM, Spudich JA, Snyder MP, Contrepois K, Bernstein D. Ranjbarvaziri S, et al. Among authors: vander roest as. Circulation. 2021 Nov 23;144(21):1714-1731. doi: 10.1161/CIRCULATIONAHA.121.053575. Epub 2021 Oct 21. Circulation. 2021. PMID: 34672721 Free PMC article.
Hypertrophic cardiomyopathy β-cardiac myosin mutation (P710R) leads to hypercontractility by disrupting super relaxed state.
Vander Roest AS, Liu C, Morck MM, Kooiker KB, Jung G, Song D, Dawood A, Jhingran A, Pardon G, Ranjbarvaziri S, Fajardo G, Zhao M, Campbell KS, Pruitt BL, Spudich JA, Ruppel KM, Bernstein D. Vander Roest AS, et al. Proc Natl Acad Sci U S A. 2021 Jun 15;118(24):e2025030118. doi: 10.1073/pnas.2025030118. Proc Natl Acad Sci U S A. 2021. PMID: 34117120 Free PMC article.