Article
Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.
International journal of molecular sciences - 18 Mar 2023
Karpicheva Olga E, Avrova Stanislava V, Bogdanov Andrey L, Sirenko Vladimir V, Redwood Charles S, Borovikov Yurii S
Abstract excerpt
The substitution for Arg168His (R168H) in γ-tropomyosin (TPM3 gene, Tpm3.12 isoform) is associated with congenital muscle fiber type disproportion (CFTD) and muscle weakness. It is still unclear what molecular mechanisms underlie the muscle dysfunction seen in CFTD. The aim of this work was to study the effect of the R168H mutation in Tpm3.12 on the critical conformational changes that myosin, actin, troponin,...
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