Article
The D75N and P161S Mutations in the C0-C2 Fragment of cMyBP-C Associated with Hypertrophic Cardiomyopathy Disturb the Thin Filament Activation, Nucleotide Exchange in Myosin, and Actin-Myosin Interaction.
International journal of molecular sciences - 18 Oct 2024
Kochurova Anastasia M, Beldiia Evgenia A, Nefedova Victoria V, Yampolskaya Daria S, Koubassova Natalia A, Kleymenov Sergey Y, Antonets Julia Y, Ryabkova Natalia S, Katrukha Ivan A, Bershitsky Sergey Y, Matyushenko Alexander M, Kopylova Galina V, Shchepkin Daniil V
Abstract excerpt
About half of the mutations that lead to hypertrophic cardiomyopathy (HCM) occur in the MYBPC3 gene. However, the molecular mechanisms of pathogenicity of point mutations in cardiac myosin-binding protein C (cMyBP-C) remain poorly understood. In this study, we examined the effects of the D75N and P161S substitutions in the C0 and C1 domains of cMyBP-C on the structural and functional properties of the C0-C1-m-C2...
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