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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: ruppel km. 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
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. Among authors: ruppel km. 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.
Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.
Homburger JR, Green EM, Caleshu C, Sunitha MS, Taylor RE, Ruppel KM, Metpally RP, Colan SD, Michels M, Day SM, Olivotto I, Bustamante CD, Dewey FE, Ho CY, Spudich JA, Ashley EA. Homburger JR, et al. Among authors: ruppel km. Proc Natl Acad Sci U S A. 2016 Jun 14;113(24):6701-6. doi: 10.1073/pnas.1606950113. Epub 2016 May 31. Proc Natl Acad Sci U S A. 2016. PMID: 27247418 Free PMC article.
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: ruppel km. 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.
47 results