دورية أكاديمية
Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes
| العنوان: | Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes |
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| المؤلفون: | Schuldt, M. (Maike), Johnston, J.R. (Jamie R.), He, H. (Huan), Huurman, R. (Roy), Pei, J. (Jiayi), Harakalova, M. (Magdalena), Poggesi, C. (Corrado), Michels, M. (Michelle), Kuster, D.W.D. (Diederik), Pinto, J.R. (Jose R.), van der Velden, J. (Jolanda) |
| المصدر: | Journal of Molecular and Cellular Cardiology vol. 150, pp. 77-90 |
| سنة النشر: | 2021 |
| المجموعة: | RePub - Publications from Erasmus University, Rotterdam |
| مصطلحات موضوعية: | Ca2+-sensitivity, Cardiomyopathy, Human tissue, Hypertrophic cardiomyopathy, Mutant protein dose, Mutation, Mutation location, Myofilament, Protein level, TNNT2, Troponin, Troponin exchange, Troponin T |
| الوصف: | Background: The clinical outcome of hypertrophic cardiomyopathy patients is not only determined by the disease-causing mutation but influenced by a variety of disease modifiers. Here, we defined the role of the mutation location and the mutant protein dose of the troponin T mutations I79N, R94C and R278C. Methods and results: We determined myo |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | http://repub.eur.nl/pub/131775Test; urn:hdl:1765/131775 |
| DOI: | 10.1016/j.yjmcc.2020.10.006 |
| الإتاحة: | https://doi.org/10.1016/j.yjmcc.2020.10.006Test http://repub.eur.nl/pub/131775Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.9D13C27D |
| قاعدة البيانات: | BASE |
| DOI: | 10.1016/j.yjmcc.2020.10.006 |
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