Associated Papers
Myopathy-causing mutation R91P in the TPM3 gene drastically impairs structural and functional properties of slow skeletal muscle tropomyosin γβ-heterodimer.
Gonchar AD et al.
Archives of Biochemistry and Biophysics, 2024
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
Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.
Kuruba B et al.
Molecules (basel, Switzerland), 2021
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
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
Congenital myopathy-related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding.
Moraczewska J et al.
The Febs Journal, 2019
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
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
Ottenheijm CA et al.
Human Molecular Genetics, 2011
Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Lawlor MW et al.
Human Mutation, 2010
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