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
Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
de Feraudy Y et al.
Genome Medicine, 2024
Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.
Lambert MR et al.
Skeletal Muscle, 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
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
Abnormal movement of tropomyosin and response of myosin heads and actin during the ATPase cycle caused by the Arg167His, Arg167Gly and Lys168Glu mutations in TPM1 gene.
Borovikov YS et al.
Archives of Biochemistry and Biophysics, 2016
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
Punetha J et al.
Journal of Neuromuscular Diseases, 2016
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
Impaired tropomyosin-troponin interactions reduce activation of the actin thin filament.
Robaszkiewicz K et al.
Biochimica Et Biophysica Acta, 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
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
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
Is mutation p.Arg168Gly in TPM3 gene responsible for Type 1 fiber hypoplasia and cap structure formation?
Fidzianska A et al.
Clinical Neuropathology, 0