Associated Papers
Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.
Lambert MR et al.
Skeletal Muscle, 2023
A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.
Chen Z et al.
Bmc Neurology, 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
The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.
Xu H et al.
Genes & Diseases, 2021
Mechanisms of disturbance of the contractile function of slow skeletal muscles induced by myopathic mutations in the tropomyosin TPM3 gene.
Matyushenko AM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Molecular mechanisms of deregulation of the thin filament associated with the R167H and K168E substitutions in tropomyosin Tpm1.1.
Borovikov YS et al.
Archives of Biochemistry and Biophysics, 2017
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.
Donkervoort S et al.
Annals of Neurology, 2015
Muscle weakness in TPM3-myopathy is due to reduced Ca2+-sensitivity and impaired acto-myosin cross-bridge cycling in slow fibres.
Yuen M et al.
Human Molecular Genetics, 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
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.
Robaszkiewicz K et al.
Biochimica Et Biophysica Acta, 2012
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Clarke NF et al.
Annals of Neurology, 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