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
A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis.
Stringel V et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2022
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
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
Effects of myopathy-causing mutations R91P and R245G in the TPM3 gene on structural and functional properties of slow skeletal muscle tropomyosin.
Gonchar AD et al.
Biochemical and Biophysical Research Communications, 2021
Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L et al.
Genes, 2020
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Moraczewska J
Journal of Muscle Research and Cell Motility, 2020
Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?
Marston SB
Frontiers in Physiology, 2016
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
Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N et al.
Cell, 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
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