Associated Papers
Congenital myopathies: pathophysiological mechanisms and promising therapies.
Zhang H et al.
Journal of Translational Medicine, 2024
A Novel Variant in TPM3 Causing Muscle Weakness and Concomitant Hypercontractile Phenotype.
Robaszkiewicz K et al.
International Journal of Molecular Sciences, 2023
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
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
Pelin K et al.
Journal of Neuromuscular Diseases, 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
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Moraczewska J
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
Nemaline myopathies: a current view.
Sewry CA et al.
Journal of Muscle Research and Cell Motility, 2019
Congenital myopathy-related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding.
Moraczewska J et al.
The Febs Journal, 2019
Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.
Del-Toro N et al.
Nature Communications, 2019
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
Leiomodin-3-deficient mice display nemaline myopathy with fast-myofiber atrophy.
Tian L et al.
Disease Models & Mechanisms, 2015
Widespread macromolecular interaction perturbations in human genetic disorders.
Sahni N et al.
Cell, 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
Alterations at the cross-bridge level are associated with a paradoxical gain of muscle function in vivo in a mouse model of nemaline myopathy.
Gineste C et al.
Plos One, 2014
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
Phenotypes of myopathy-related beta-tropomyosin mutants in human and mouse tissue cultures.
Abdul-Hussein S et al.
Plos One, 2013
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.
Robaszkiewicz K et al.
Biochimica Et Biophysica Acta, 2012
Congenital myopathies: an update.
Nance JR et al.
Current Neurology and Neuroscience Reports, 2012
Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
Nguyen MA et al.
Brain : a Journal of Neurology, 2011
Nemaline myopathies.
Wallgren-Pettersson C et al.
Seminars in Pediatric Neurology, 2011
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions].
Robaszkiewicz K et al.
Postepy Higieny I Medycyny Doswiadczalnej (online), 2011
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
Ottenheijm CA et al.
Human Molecular Genetics, 2011
Mouse models of dominant ACTA1 disease recapitulate human disease and provide insight into therapies.
Ravenscroft G et al.
Brain : a Journal of Neurology, 2011
Actin nemaline myopathy mouse reproduces disease, suggests other actin disease phenotypes and provides cautionary note on muscle transgene expression.
Ravenscroft G et al.
Plos One, 2011
Autosomal dominant nemaline myopathy caused by a novel alpha-tropomyosin 3 mutation.
Kiphuth IC et al.
Journal of Neurology, 2010
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
alpha-Skeletal muscle actin nemaline myopathy mutants cause cell death in cultured muscle cells.
Vandamme D et al.
Biochimica Et Biophysica Acta, 2009
161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.
Laing NG et al.
Neuromuscular Disorders : Nmd, 2009
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction.
Ochala J
Journal of Molecular Medicine (berlin, Germany), 2008
Disease severity and thin filament regulation in M9R TPM3 nemaline myopathy.
Ilkovski B et al.
Journal of Neuropathology and Experimental Neurology, 2008
Beta-tropomyosin mutations alter tropomyosin isoform composition.
Nilsson J et al.
European Journal of Neurology, 2008
Mutations in TPM3 are a common cause of congenital fiber type disproportion.
Clarke NF et al.
Annals of Neurology, 2008
Tropomyosin 4 defines novel filaments in skeletal muscle associated with muscle remodelling/regeneration in normal and diseased muscle.
Vlahovich N et al.
Cell Motility and the Cytoskeleton, 2008
Skeletal muscle disease due to mutations in tropomyosin, troponin and cofilin.
Clarke NF
Advances in Experimental Medicine and Biology, 2008
Investigations into the pathobiology of thin-filament myopathies.
Ilkovski B
Advances in Experimental Medicine and Biology, 2008
Mouse models for thin filament disease.
Nguyen MA et al.
Advances in Experimental Medicine and Biology, 2008
Tropomyosins in skeletal muscle diseases.
Kee AJ et al.
Advances in Experimental Medicine and Biology, 2008
A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
Pénisson-Besnier I et al.
Neuromuscular Disorders : Nmd, 2007
Skeletal muscle repair in a mouse model of nemaline myopathy.
Sanoudou D et al.
Human Molecular Genetics, 2006
138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands.
Wallgren-Pettersson C et al.
Neuromuscular Disorders : Nmd, 2006
Mapping the tropomyosin isoform 5 binding site on human erythrocyte tropomodulin: further insights into E-Tmod/TM5 interaction.
Vera C et al.
Archives of Biochemistry and Biophysics, 2005
An alphaTropomyosin mutation alters dimer preference in nemaline myopathy.
Corbett MA et al.
Annals of Neurology, 2005
Muscle weakness in a mouse model of nemaline myopathy can be reversed with exercise and reveals a novel myofiber repair mechanism.
Joya JE et al.
Human Molecular Genetics, 2004
Myofiber adaptational response to exercise in a mouse model of nemaline myopathy.
Nair-Shalliker V et al.
Muscle & Nerve, 2004