Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes

The review is devoted to tropomyosin (Tpm)–actin-binding protein, which plays a crucial role in the regulation of contraction of skeletal and cardiac muscles. Special attention is paid to myopathies and cardiomyopathies–severe hereditary diseases of skeletal and cardiac muscles associated with point...

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Veröffentlicht in:Biochemistry (Moscow) 2020, Vol.85 (Suppl 1), p.20-33
Hauptverfasser: Matyushenko, A. M., Levitsky, D. I.
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creator Matyushenko, A. M.
Levitsky, D. I.
description The review is devoted to tropomyosin (Tpm)–actin-binding protein, which plays a crucial role in the regulation of contraction of skeletal and cardiac muscles. Special attention is paid to myopathies and cardiomyopathies–severe hereditary diseases of skeletal and cardiac muscles associated with point mutations in Tpm genes. The current views on the molecular mechanisms of these diseases and the effects of such mutations on the Tpm structure and functions are considered in detail. Besides, some part of the review is devoted to analysis of the properties of Tpm homodimers and heterodimers with myopathic substitutions of amino acid residues in only one of the two chains of the Tpm dimeric molecule.
doi_str_mv 10.1134/S0006297920140023
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subjects Actin
Actins - metabolism
Amino acids
Analysis
Animals
Binding proteins
Biochemistry
Biomedical and Life Sciences
Biomedicine
Bioorganic Chemistry
Cardiomyopathies - genetics
Dimerization
Gene mutations
Genes
Genetic aspects
Heterozygote
Humans
Life Sciences
Microbiology
Models, Molecular
Muscle Contraction - genetics
Muscle proteins
Muscle, Skeletal - pathology
Muscular Diseases - genetics
Myocardium - pathology
Point Mutation
Protein Binding
Protein Isoforms
Review
Tropomyosin - chemistry
Tropomyosin - genetics
Tropomyosin - metabolism
title Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes
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