Associated Papers
Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.
Gagoski D et al.
Protein Science : a Publication of the Protein Society, 2025
Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.
Gagoski D et al.
Biorxiv : the Preprint Server for Biology, 2025
Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.
Wallgren-Pettersson C et al.
Neuromuscular Disorders : Nmd, 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
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 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
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.
Werlauff U et al.
Journal of Neuromuscular Diseases, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.
Moraczewska J
Journal of Muscle Research and Cell Motility, 2020
Congenital myopathy-related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding.
Moraczewska J et al.
The Febs Journal, 2019
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
Congenital myopathies with secondary neuromuscular transmission defects; a case report and review of the literature.
Rodríguez Cruz PM et al.
Neuromuscular Disorders : Nmd, 2014
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
Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
Citirak G et al.
Neuromuscular Disorders : Nmd, 2014
Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
Malfatti E et al.
Neuromuscular Disorders : Nmd, 2013
Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.
Ochala J et al.
Human Molecular Genetics, 2012
Functional effects of congenital myopathy-related mutations in gamma-tropomyosin gene.
Robaszkiewicz K et al.
Biochimica Et Biophysica Acta, 2012
Congenital fiber-type disproportion.
Clarke NF
Seminars in Pediatric Neurology, 2011
Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.
Ottenheijm CA et al.
Human Molecular Genetics, 2011
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia.
Munot P et al.
Neuromuscular Disorders : Nmd, 2010
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
A TPM3 mutation causing cap myopathy.
De Paula AM et al.
Neuromuscular Disorders : Nmd, 2009
161st ENMC International Workshop on nemaline myopathy and related disorders, Newcastle upon Tyne, 2008.
Laing NG et al.
Neuromuscular Disorders : Nmd, 2009
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
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