Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy.

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作者： Amy,Pearce ^[1] ; Saraswathi,Ponnam ^[2] ; Mark R,Holt ^[1] ; Thomas,Randall ^[1] ; Rylan,Beckingham ^[1] ; Ay Lin,Kho ^[2] ; Thomas,Kampourakis ^[2] ; Elisabeth,Ehler ^[3]

作者单位： School of Cardiovascular and Metabolic Medicine and Sciences, King's College London, London, United Kingdom; British Heart Foundation Centre of Research Excellence, King's College London, London, United Kingdom. ^[1] British Heart Foundation Centre of Research Excellence, King's College London, London, United Kingdom; Randall Centre for Cell and Molecular Biophysics (School of Basic and Biosciences), King's College London, London, United Kingdom. ^[2] School of Cardiovascular and Metabolic Medicine and Sciences, King's College London, London, United Kingdom; British Heart Foundation Centre of Research Excellence, King's College London, London, United Kingdom; Randall Centre for Cell and Molecular Biophysics (School of Basic and Biosciences), King's College London, London, United Kingdom. Electronic address: elisabeth.ehler@kcl.ac.uk. ^[3]

关键词 ATPase cardiomyopathy cell culture cytoskeleton heart microscopic imaging mutant protein stability

主题词人类(Humans);心肌病, 肥厚性(Cardiomyopathy, Hypertrophic);载体蛋白质类(Carrier Proteins);突变, 误义(Mutation, Missense);蛋白质稳定性(Protein Stability)

DOI 10.1016/j.jbc.2023.105511

PMID 38042491

发布时间 2025-02-10

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