Assessment of the Contribution of a Thermodynamic and Mechanical Destabilization of Myosin-Binding Protein C Domain C2 to the Pathomechanism of Hypertrophic Cardiomyopathy-Causing Double Mutation MYBPC3(Δ25bp/D389V)

Mutations in the gene encoding cardiac myosin-binding protein-C (MyBPC), a thick filament assembly protein that stabilizes sarcomeric structure and regulates cardiac function, are a common cause for the development of hypertrophic cardiomyopathy. About 10% of carriers of the Δ25bp variant of MYBPC3,...

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Detalles Bibliográficos
Autores principales: Schwäbe, Frederic V., Peter, Emanuel K., Taft, Manuel H., Manstein, Dietmar J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584774/
https://www.ncbi.nlm.nih.gov/pubmed/34769381
http://dx.doi.org/10.3390/ijms222111949

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8584774/
https://www.ncbi.nlm.nih.gov/pubmed/34769381
http://dx.doi.org/10.3390/ijms222111949

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