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 |
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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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M. ; Levitsky, D. I.</creator><creatorcontrib>Matyushenko, A. M. ; Levitsky, D. I.</creatorcontrib><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. 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M.</creatorcontrib><creatorcontrib>Levitsky, D. I.</creatorcontrib><title>Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes</title><title>Biochemistry (Moscow)</title><addtitle>Biochemistry Moscow</addtitle><addtitle>Biochemistry (Mosc)</addtitle><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.</description><subject>Actin</subject><subject>Actins - metabolism</subject><subject>Amino acids</subject><subject>Analysis</subject><subject>Animals</subject><subject>Binding proteins</subject><subject>Biochemistry</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Bioorganic Chemistry</subject><subject>Cardiomyopathies - genetics</subject><subject>Dimerization</subject><subject>Gene mutations</subject><subject>Genes</subject><subject>Genetic aspects</subject><subject>Heterozygote</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Microbiology</subject><subject>Models, Molecular</subject><subject>Muscle Contraction - genetics</subject><subject>Muscle proteins</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscular Diseases - genetics</subject><subject>Myocardium - pathology</subject><subject>Point Mutation</subject><subject>Protein Binding</subject><subject>Protein Isoforms</subject><subject>Review</subject><subject>Tropomyosin - chemistry</subject><subject>Tropomyosin - genetics</subject><subject>Tropomyosin - metabolism</subject><issn>0006-2979</issn><issn>1608-3040</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2020</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp9kU2LFDEQhoMo7rj6A7xIwIuXXisf_XVchnUVdnBh13OTTldmsqaTMUkL8-_NOKsgiuQQqt7nLYq3CHnN4IIxId_fAUDD-7bnwCQAF0_IijXQVQIkPCWro1wd9TPyIqWHUnLoxXNyJjh0LdR8Rb5vgkO9OBXpBvVOeZvmRIOhtyrvggtbiz_Lu6_oMCtHlZ_oWsXJKk03S9Ku6Gu1JJzoeKC3wfpc-lllG3yi1tO8Q3ofwz7Mh5BKfY0e00vyzCiX8NXjf06-fLi6X3-sbj5ff1pf3lRaMparqWuwLCpr3jCDwtRjMxppeK36VqsGJqZbybgae-x6yaZWYFPrTvSgAMdGiHPy7jR3H8O3BVMeZps0Oqc8hiUNXDQlipIKFPTtCd0qh4P1JuSo9BEfLjuQJVcmu0Jd_IMqb8LZ6uDR2NL_w8BOBh1DShHNsI92VvEwMBiOVxz-umLxvHncehlnnH47fp2tAPwEpCL5LcbhISzRlyT_M_UHY-6k-g</recordid><startdate>2020</startdate><enddate>2020</enddate><creator>Matyushenko, A. 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I.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c411t-d86e87045261fe3f5b6bf4f25a97ca60d1c7412ab9e8941d73e65c8390a0eb633</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2020</creationdate><topic>Actin</topic><topic>Actins - metabolism</topic><topic>Amino acids</topic><topic>Analysis</topic><topic>Animals</topic><topic>Binding proteins</topic><topic>Biochemistry</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Bioorganic Chemistry</topic><topic>Cardiomyopathies - genetics</topic><topic>Dimerization</topic><topic>Gene mutations</topic><topic>Genes</topic><topic>Genetic aspects</topic><topic>Heterozygote</topic><topic>Humans</topic><topic>Life Sciences</topic><topic>Microbiology</topic><topic>Models, Molecular</topic><topic>Muscle Contraction - genetics</topic><topic>Muscle proteins</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscular Diseases - genetics</topic><topic>Myocardium - pathology</topic><topic>Point Mutation</topic><topic>Protein Binding</topic><topic>Protein Isoforms</topic><topic>Review</topic><topic>Tropomyosin - chemistry</topic><topic>Tropomyosin - genetics</topic><topic>Tropomyosin - metabolism</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Matyushenko, A. M.</creatorcontrib><creatorcontrib>Levitsky, D. I.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Biochemistry (Moscow)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Matyushenko, A. M.</au><au>Levitsky, D. I.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes</atitle><jtitle>Biochemistry (Moscow)</jtitle><stitle>Biochemistry Moscow</stitle><addtitle>Biochemistry (Mosc)</addtitle><date>2020</date><risdate>2020</risdate><volume>85</volume><issue>Suppl 1</issue><spage>20</spage><epage>33</epage><pages>20-33</pages><issn>0006-2979</issn><eissn>1608-3040</eissn><abstract>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.</abstract><cop>Moscow</cop><pub>Pleiades Publishing</pub><pmid>32087052</pmid><doi>10.1134/S0006297920140023</doi><tpages>14</tpages></addata></record> |
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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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