Associated Papers
The Twisting and Untwisting of Actin and Tropomyosin Filaments Are Involved in the Molecular Mechanisms of Muscle Contraction, and Their Disruption Can Result in Muscle Disorders.
Borovikov YS et al.
International Journal of Molecular Sciences, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Effect of Neurodegenerative Mutations in the NEFL Gene on Thermal Denaturation of the Neurofilament Light Chain Protein.
Nefedova VV et al.
Biochemistry. Biokhimiia, 2023
Molecular Mechanisms of Deregulation of Muscle Contractility Caused by the R168H Mutation in TPM3 and Its Attenuation by Therapeutic Agents.
Karpicheva OE et al.
International Journal of Molecular Sciences, 2023
A pathogenic mechanism associated with myopathies and structural birth defects involves TPM2-directed myogenesis.
McAdow J et al.
Jci Insight, 2022
Models of Distal Arthrogryposis and Lethal Congenital Contracture Syndrome.
Whittle J et al.
Genes, 2021
Molecular Mechanisms of the Deregulation of Muscle Contraction Induced by the R90P Mutation in Tpm3.12 and the Weakening of This Effect by BDM and W7.
Borovikov YS et al.
International Journal of Molecular Sciences, 2021
Molecular Mechanisms of Muscle Weakness Associated with E173A Mutation in Tpm3.12. Troponin Ca2+ Sensitivity Inhibitor W7 Can Reduce the Damaging Effect of This Mutation.
Borovikov YS et al.
International Journal of Molecular Sciences, 2020
A recurrent pathogenic variant in TPM2 reveals further phenotypic and genetic heterogeneity in multiple pterygium syndrome-related disorders.
Vogt J et al.
Clinical Genetics, 2020
Functional outcomes of structural peculiarities of striated muscle tropomyosin.
Kopylova GV et al.
Journal of Muscle Research and Cell Motility, 2020
The Primary Causes of Muscle Dysfunction Associated with the Point Mutations in Tpm3.12; Conformational Analysis of Mutant Proteins as a Tool for Classification of Myopathies.
Borovikov YS et al.
International Journal of Molecular Sciences, 2018
Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.
Li S et al.
Bmc Medical Genetics, 2018
The reason for a high Ca2+-sensitivity associated with Arg91Gly substitution in TPM2 gene is the abnormal behavior and high flexibility of tropomyosin during the ATPase cycle.
Borovikov YS et al.
Biochemical and Biophysical Research Communications, 2017
Abstracts of EMC2017.
Unknown Author
Journal of Muscle Research and Cell Motility, 2017
Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene.
Borovikov YS et al.
Scientific Reports, 2017
Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2.
Hsu WL et al.
Bmc Biology, 2017
Myopathy-causing Q147P TPM2 mutation shifts tropomyosin strands further towards the open position and increases the proportion of strong-binding cross-bridges during the ATPase cycle.
Karpicheva OE et al.
Biochimica Et Biophysica Acta, 2016
Aberrant movement of β-tropomyosin associated with congenital myopathy causes defective response of myosin heads and actin during the ATPase cycle.
Borovikov YS et al.
Archives of Biochemistry and Biophysics, 2015
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2015
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.
Marttila M et al.
Human Mutation, 2014
Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.
Marston S et al.
Human Molecular Genetics, 2013
Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.
Memo M et al.
Journal of Muscle Research and Cell Motility, 2013
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.
Ko JM et al.
Journal of Korean Medical Science, 2013
K7del is a common TPM2 gene mutation associated with nemaline myopathy and raised myofibre calcium sensitivity.
Mokbel N et al.
Brain : a Journal of Neurology, 2013
Myopathies associated with β-tropomyosin mutations.
Tajsharghi H et al.
Neuromuscular Disorders : Nmd, 2012
Abnormal actin binding of aberrant β-tropomyosins is a molecular cause of muscle weakness in TPM2-related nemaline and cap myopathy.
Marttila M et al.
The Biochemical Journal, 2012
Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.
Ochala J et al.
The Journal of Physiology, 2008
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
Clarke NF
Advances in Experimental Medicine and Biology, 2008
Tropomyosins in skeletal muscle diseases.
Kee AJ et al.
Advances in Experimental Medicine and Biology, 2008
Stability of two beta-tropomyosin isoforms: effects of mutation Arg91Gly.
Nevzorov I et al.
Journal of Muscle Research and Cell Motility, 2008
Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function.
Robinson P et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007
[Effect of mutation Arg9lGly on the thermal stability of beta-tropomyosin].
Nevzorov IA et al.
Biofizika, 0