Associated Papers
Myopathy-linked mutations in TPM2 and their impact on troponin-mediated regulation of actomyosin contractility.
Küçükdogru R et al.
The Febs Journal, 2025
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
Mechanochemical consequences of myopathy-linked mutations in Tpm2.2 on striated muscle contractility.
Küçükdogru R et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Transcriptome-based variant calling and aberrant mRNA discovery enhance diagnostic efficiency for neuromuscular diseases.
Hong SE et al.
Journal of Medical Genetics, 2022
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
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
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
The reason for the low Ca2+-sensitivity of thin filaments associated with the Glu41Lys mutation in the TPM2 gene is "freezing" of tropomyosin near the outer domain of actin and inhibition of actin monomer switching off during the ATPase cycle.
Avrova SV et al.
Biochemical and Biophysical Research Communications, 2018
Smad4 SUMOylation is essential for memory formation through upregulation of the skeletal myopathy gene TPM2.
Hsu WL et al.
Bmc Biology, 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
Monies D et al.
Human Genetics, 2017
Noncanonical roles for Tropomyosin during myogenesis.
Williams J et al.
Development (cambridge, England), 2015
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
The embryonic myosin R672C mutation that underlies Freeman-Sheldon syndrome impairs cross-bridge detachment and cycling in adult skeletal muscle.
Racca AW et al.
Human Molecular Genetics, 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
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
Myofilament lattice structure in presence of a skeletal myopathy-related tropomyosin mutation.
Ochala J et al.
Journal of Muscle Research and Cell Motility, 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
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
Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures.
Tasca G et al.
Acta Neuropathologica, 2013
Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.
Abdul-Hussein S et al.
Plos One, 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
Beta-tropomyosin mutations alter tropomyosin isoform composition.
Nilsson J et al.
European Journal 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
Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
Tajsharghi H et al.
Archives of Neurology, 2007