October 2, 2025Open Access

Missense variants in the myosin binding domains of MYBPC3 and MYBPHL impair sarcomere incorporation

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Discussion

Observational analysis found MYBPC3 and MYBPHL variants disrupt sarcomere localization, suggesting altered binding affinity.

MYBPHL missense variants significantly mislocalize sarcomeres, impacting contractility.
Selected MYBPC3 variants show variable effects on sarcomere localization, indicating complex interactions.
The study engineered constructs to assess binding affinity, crucial for understanding cardiomyopathy mechanisms.
Findings highlight the importance of stoichometric balance in cardiac myosin binding proteins for sarcomere function.

Araujo et al. (2025) studied this question.

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