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
Congenital myopathies: pathophysiological mechanisms and promising therapies.
Zhang H et al.
Journal of Translational Medicine, 2024
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
Looking for Targets to Restore the Contractile Function in Congenital Myopathy Caused by Gln147Pro Tropomyosin.
Karpicheva OE 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
Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.
Matyushenko AM et al.
Biochemistry. Biokhimiia, 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
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
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
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
Nebulin interactions with actin and tropomyosin are altered by disease-causing mutations.
Marttila M et al.
Skeletal Muscle, 2014
The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation.
Karpicheva OE et al.
Archives of Biochemistry and Biophysics, 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
Mutations in TPM2 and congenital fibre type disproportion.
Clarke NF 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
Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2.
Lehtokari VL et al.
Neuromuscular Disorders : Nmd, 2007
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
Donner K et al.
Neuromuscular Disorders : Nmd, 2002